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Contains fulltext : 226037.pdf (Publisher’s version ) (Open Access) Preeclampsia is the archetype of a spectrum of clinical disorders related to abnormal placental development or function, characterized by placental histological lesions. Among those lesions, decidual vasculopathy is a term used to describe lesions of maternal spiral arteries, which are encountered on placental examination in about half of the women with preeclampsia. The morphological features of the lesions include perivascular lymphocytic infiltration, fibrinoid necrosis and foam cell incorporation within the vessel wall. Due to the resemblance of the latter characteristic to atherosclerosis, they are alternatively termed acute atherosis. Decidual vasculopathy correlates with worse maternal and neonatal outcomes, as well as placental pathology. In this article, we review the available literature on decidual vasculopathy and address the pitfalls in histological analysis of the lesions, including the varying definitions of the lesions and sample collection methods. We also discuss the current evidence on the etiology of the lesions and propose a novel hypothesis linking the three etiological pathways to the formation of decidual vasculopathy and, ultimately, the emergence of the heterogeneous group of placental dysfunction disorders, known as the great obstetric syndromes.

Objective: To study the pregnancy outcomes of women with a dichorionic triamniotic triplet pregnancy that was reduced to a singleton pregnancy and to review the literature. Methods: We performed a nationwide retrospective cohort study. We compared time to delivery and perinatal mortality in dichorionic triplet pregnancies reduced to singletons with ongoing dichorionic triplet pregnancies and primary singleton pregnancies. Additionally, we reviewed the literature on the subject. Results: We studied 46 women with a reduced dichorionic triplet pregnancy and 42 women with an ongoing dichorionic triplet pregnancy. Median gestational age at delivery was 38.7 vs. 32.8 weeks, respectively (p < 0.001). Delivery Conclusion: Multifetal pregnancy reduction in women with a dichorionic triplet pregnancy to a singleton pregnancy prolongs median gestational age at birth. No statistically significant association was found with miscarriage and perinatal survival rates.

OBJECTIVE: Our aim is to evaluate the feasibility to examine the morphology and area of the atrioventricular (AV) valves in normal fetuses and fetuses with cardiac defects using spatiotemporal image correlation (STIC). METHODS: Atrioventricular valves were analyzed longitudinally in STIC volumes of 74 normal fetuses between the 15th and 36th week of pregnancy. The valve area was measured in a rendered view in diastole, the number of valve leaflets in systole. Longitudinal data analysis was performed using linear mixed models. Fifty fetuses with cardiac defects were examined. RESULTS: Examination of 355 STIC volumes of normal fetuses showed in 82.5% sufficient quality. The tricuspid valve leaflets were seen in 200 (68.3%) volumes and the mitral valve leaflets in 219 (74.7%) volumes. The tricuspid valve showed in 61.1% a round, 29.0% rectangle, and 8.9% elliptical shape and the mitral valve in 60.1% round, 28.0% rectangle, and 10.9% elliptical. Regression analysis revealed a positive relationship of the valve area with gestational age (p < 0.0001). Most heart defects with stenosis showed an area below the 5th percentile. CONCLUSION: Prenatal examination of the morphology and area of the AV valves using four-dimensional ultrasound is feasible. A rectangular valve opening is normal, which was visualized in about one third of the normal fetuses. (c) 2015 John Wiley & Sons, Ltd.

Item does not contain fulltext STUDY QUESTION: What are the pregnancy outcomes for women with a twin pregnancy that is reduced to a singleton pregnancy? SUMMARY ANSWER: Fetal reduction of a twin pregnancy significantly improves gestational age at birth and neonatal birthweight, however at an increased risk of pregnancy loss and preterm delivery. WHAT IS KNOWN ALREADY: Women with a multiple pregnancy are at increased risk for preterm delivery. Fetal reduction can be considered in these women. STUDY DESIGN, SIZE, AND DURATION: Retrospective cohort study of 118 women with a twin pregnancy reduced to a singleton pregnancy between 2000 and 2010. PARTICIPANTS/MATERIALS, SETTING, AND METHODS: We compared the outcome of pregnancy in consecutive women with a dichorionic twin pregnancy that was reduced to a singleton pregnancy to that of women with a dichorionic twin pregnancy that was managed expectantly and women with a primary singleton pregnancy. Reductions were performed between 10-23(6/7) weeks' gestation by intracardiac or intrathoracic injection of potassium chloride, mostly for congenital anomalies. We compared median gestational age, pregnancy loss

Contains fulltext : 174531.pdf (Publisher’s version ) (Open Access) OBJECTIVE: To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS: This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal chromosomal abnormality based on findings at sonographic examination, in which NIPT was performed as a first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome, as well as partial, autosomal aneuploidy. Sex chromosomes were not analyzed, according to the current protocol in Dutch laboratories. RESULTS: NIPT was performed at a median gestational age of 20 weeks, indicated by the presence of multiple congenital anomalies (n = 13), isolated structural anomalies (n = 57), increased nuchal translucency >/= 3.5 mm (n = 58), soft markers (n = 73), growth restriction (n = 40) and other anomalies (n = 10). NIPT results were normal in 224 (89.2%) pregnancies, inconclusive in one (0.4%) and abnormal in 26 (10.4%). Most genetic aberrations detected by NIPT were common whole-chromosome aneuploidies: trisomy 21 (n = 13), trisomy 18 (n = 6) and trisomy 13 (n = 3). Four further NIPT results were abnormal; one was suspected of being confined placental mosaicism and one was of maternal origin. In those with normal NIPT results, sonographic follow-up or examination of the newborn indicated the need for diagnostic genetic testing in 33/224 (14.7%) pregnancies. Clinically relevant genetic aberrations were revealed in 7/224 (3.1%) cases, two of which were whole-chromosome aneuploidies: trisomy 13 and monosomy X. As sex chromosomal aberrations are not included in NIPT analysis, the latter cannot be considered a false-negative result. Other discordant findings were subchromosomal aberrations (< 20 megabases, n = 2) and monogenic aberrations (n = 3). CONCLUSIONS: NIPT should not be recommended for genetic evaluation of the etiology of ultrasound anomalies, as both resolution and sensitivity, or negative predictive value, are inferior to those of conventional karyotyping and microarray analysis. Nonetheless, some pregnant women consider NIPT to be an acceptable alternative to invasive diagnostic testing. (c) 2016 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Objectives The objectives of this study were to develop reference values for the distance between the atrioventricular valves, called differential insertion of the atrioventricular valves (DIAVV), in normal fetuses using four-dimensional ultrasound with spatio-temporal image correlation and to explore if DIAVV measurement can differentiate between normal hearts and hearts with cardiac defects. Methods The DIAVV was analysed longitudinally following a measurement protocol in 74 fetuses between 15 and 36 weeks gestational age. The DIAVV was measured in an apical four-chamber view of the heart in end-diastole. Furthermore, the DIAVV was measured in 70 fetuses with cardiac defects. Results In total, 337 normal and 70 abnormal spatio-temporal image correlation volumes were examined. Longitudinal regression analysis revealed a positive relationship of the DIAVV with gestational age and fetal biometry (p

OBJECTIVE: The aim of this study was to compare screening performance for Down syndrome of the absolute risk (AR) method to the first trimester combined test (FCT) at different maternal ages. METHODS: There was a retrospective analysis of 32,448 FCT. AR was defined as final risk divided by maternal age risk. RESULTS: The likelihood of receiving a true prediction was comparable between both methods in all age groups. With the AR method, two extra Down syndrome cases were detected in women /=36 years, and the likelihood of receiving a false prediction decreased overall (OR 0.82, CI 0.77-0.87; P < 0.0001), in women aged 36-40 years (0.45, CI 0.41-0.51; P < 0.0001), in women aged 41-45 years (0.18, CI 0.13-0.26; P < 0.0001) and increased in women aged

Objective: To validate previously computed correction factors for free β-human chorionic gonadotrophin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) pregnancies with hormone treatment and to determine the effect on false-positive rate (FPR). Methods: Retrospective study on 249 IVF and 250 ICSI cases and 20,190 controls. Correction factors 1.42 (PAPP-A), 1.17 (fβ-hCG) in IVF; 1.56 (PAPP-A) in ICSI were applied on the absolute serum concentrations. Analysis was done on log10-transformed multiples of medians (MoMs). Results: In the controls, mean PAPP-A and fβ-hCG MoM were 1.004 and 1.062. Before correction, mean PAPP-A MoM was significantly lower in IVF (0.757; p < 0.001) and in ICSI (0.671; p < 0.001) and after correction comparable (1.071; p = 0.053 in IVF; 1.048; p = 0.178 in ICSI). Before correction, mean fβ-hCG MoM was comparable (1.054; p = 0.59 in IVF and 1.051; p = 0.56 in ICSI) and after correction significantly higher in IVF (1.241; p < 0.001). After correction the likelihood for receiving a false-positive result was 1.03 in IVF pregnancies (95% CI 0.98-1.09; p = 0.248) and 1.02 in ICSI pregnancies (95% CI 0.97-1.07; p = 0.448). Conclusions: After correction the FPR in IVF and ICSI pregnancies with hormone treatment reduces to the observed FPR in the controls.

Item does not contain fulltext Congenital heart diseases (CHD) are the most commonly overlooked lesions in prenatal screening programs. Real-time two-dimensional ultrasound (2DUS) is the conventionally used tool for fetal echocardiography. Although continuous improvements in the hardware and post-processing software have resulted in a good image quality even in late first trimester, 2DUS still has its limitations. Four-dimensional ultrasound with spatiotemporal image correlation (STIC) is an automated volume acquisition, recording a single three-dimensional (3D) volume throughout a complete cardiac cycle, which results in a four-dimensional (4D) volume. STIC has the potential to increase the detection rate of CHD. The aim of this study is to provide a practical overview of the possibilities and (dis)advantages of STIC. A review of literature and evaluation of the current status and clinical value of 3D/4D ultrasound in prenatal screening and diagnosis of congenital heart disease are presented.

Objective To evaluate the clinical accuracy of four-dimensional (4D) echocardiography in the detailed prenatal diagnosis of congenital heart disease (CHD) in a telemedicine setting. Methods Ten second-trimester spatiotemporal image correlation (STIC) volumes were sent to three observers in different tertiary care centers with expertise in 4D echocardiography. The 10 volumes were selected based on the type of diagnosis to cover a wide spectrum of CHD anomalies, and also included one normal fetal heart. Observers were asked to provide the diagnosis, the postprocessing modalities used and the time spent on examination, and to give a rating of the confidence for the diagnosis on a 5-point Likert scale. They were free to consult other colleagues, including pediatric cardiologists, but were blinded to the prenatal diagnosis and the neonatal outcome. A diagnostic scoring system was used to evaluate different aspects of the heart defects. The results were compared with neonatal echocardiography or postmortem findings (‘gold standard’). Results In two cases all observers correctly diagnosed all details of the volume datasets. The observer with the best performance reached perfect agreement in six cases and nearly perfect agreement in three. The volumes were most frequently studied by sectional planes and were analyzed in a median time of 11.0 (range, 2.5–30.0) min. The median confidence score was 4.0 (range, 1.0–5.0). Conclusions In a telemedicine setting using STIC volumes, fetal cardiac anomalies can be diagnosed correctly by an expert. However, details required for adequate counseling and planning of postnatal care may be missed. STIC by telemedicine is a promising modality, although not accurate enough for exclusive use in clinical decision making regarding treatment, prognosis or termination of pregnancy. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

Objective: To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). Methods: PlGF concentration was retrospectively measured in first trimester serum specimens of 23 cases of early-onset PE (

Objective To evaluate marker distribution of free β-human chorionic gonadotrophin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies conceived by assisted reproduction techniques (ART). Methods In vitro fertilization (IVF) (n = 203) and intracytoplasmic sperm injection (ICSI) (n = 192) cases from a database of 14 645 first-trimester combined tests (overall study group) were selected and matched to 1164 controls for gestational age at sample date and maternal age. Results In the IVF group and ICSI group, lnPAPP-A was lower (IVF 6.74 vs 7.08; P = 0.0001; ICSI 6.59 vs 7.07; P = 0.0001) compared with the matched controls. Lnfβ-hCG was lower in the IVF group (3.75 vs 3.90; P = 0.005) but not significantly different in the ICSI group (3.87 vs 3.93; P = 0.27). The computed correction factors for PAPP-A and fβ-hCG were 1.42 and 1.17 for the IVF group and 1.56 and 1.05 for the ICSI group. The false-positive rate (FPR) in the IVF and ICSI group compared with the matched controls was higher (IVF 10.3% vs 8.6% and ICSI 10.9% vs 7.5%). In the overall age-biased [maternal age significantly lower compared with all ART and control groups] study group the FPR was 6.8%. Conclusion The increase in FPR in the ART groups can be explained by decreased PAPP-A values. Therefore, an adjustment in risk analysis for Down syndrome is suggested. Copyright © 2010 John Wiley & Sons, Ltd.

Background A disintegrin and metalloprotease 12s (ADAM12s) is a potential first trimester serum marker for fetal trisomy and adverse pregnancy outcome in singletons. In this study, ADAM12s levels in first trimester serum of uncomplicated and complicated twins were evaluated. Methods ADAM12s was studied in maternal serum of 215 twin pregnancies, collected between 2004 and 2008. ADAM12s was measured ‘blind to outcome’ using AutoDelfia (PerkinElmer, Turku, Finland). As a reference, data from 2423 singletons were used. Results The median ADAM12s level was increased in euploid twins [1.61 multiples of the median (MoM); n = 209] compared with singletons. The median ADAM12s MoM was significantly lower in monochorionic (1.36 MoM; n = 41) compared with dichorionic twins (1.67 MoM; n = 168) (Mann-Whitney U test, p = 0.005). Trisomy 21 was identified in two pregnancies. Median ADAM12s MoM in twins complicated by hypertensive disorders (1.77 MoM, n = 35) or small for gestational age fetus (1.54 MoM; n = 24) was not significantly different from uncomplicated twins (1.64 MoM; n = 134). Conclusion Median ADAM12s MoM in euploid twins was increased compared with singletons. Monochorionic had significantly lower median ADAM12s MoM than dichorionic twins. Median ADAM12s MoMs were not significantly different in twins complicated by hypertensive disorders or small for gestational age fetus compared with uncomplicated twins. Copyright © 2010 John Wiley & Sons, Ltd.

Background In the Netherlands, prenatal screening for trisomy 21 in the first trimester of pregnancy for singletons is conducted through a combined test based on maternal age, nuchal translucency measurement and maternal serum free β-hCG and PAPP-A. In our clinic risk calculations in twins are currently based on the NT of both fetuses instead of the combined test. In this study we looked at differences in early first-trimester free β-hCG and PAPP-A between mono- and dichorionic twins. Methods A total of 202 twin pregnant women participated in the study and agreed to donate first-trimester serum for research. Results The data of 200 twins with normal outcome were used for setting up reference values for free β-hCG and PAPP-A. Trisomy 21 was identified in the two remaining pregnancies. The overall median weight-corrected MoM was 1.99 for free β-hCG, and 2.14 for PAPP-A in all twins. Monochorionic twins have a significantly lower free β-hCG weight-corrected MoM (1.53 vs 2.11; Mann-Whitney U, p = 0.002) and a significantly lower PAPP-A weight-corrected MoM (1.59 vs 2.40; Mann-Whitney U, p = 0.003) compared to dichorionic. Conclusion This study strengthened the need to make a distinction between mono- and dichorionic twins for the risk calculation in Down syndrome screening as biochemical markers are significantly lower in monochorionic than in dichorionic twins.

Contains fulltext : 153719.pdf (Publisher’s version ) (Closed access) OBJECTIVE: A subgroup of preeclamptic women has spiral artery lesions termed decidual vasculopathy (DV) which relate to worse clinical outcome. We aimed to determine whether a history of preeclampsia (PE) with DV is associated with adverse overall and future pregnancy outcome, including increased recurrence risk of hypertensive diseases of pregnancy. METHODS: Via posted survey women with PE and DV (DV positive) in the index pregnancy were compared to those without the lesions (DV negative) on overall and future pregnancy outcome. RESULTS: DV positive cases showed a higher incidence of chronic hypertension both preconceptionally and at time of survey, adjusted odds ratio 4.8 (2.0-11.9). The DV positive group had a higher overall incidence of pregnancies with gestational hypertension (22% vs 13%, p = 0.04), preterm birth (59% vs 45%, p = 0.02) and a lower birth weight centile (30 vs 39, p = 0.02). There was no difference in outcome of future pregnancies, irrespective of the use of prophylactic aspirin. CONCLUSION: Women with DV-associated PE have a higher overall incidence of adverse obstetric outcome and of chronic hypertension, indicating an underlying vascular pathology, putting them at risk for pregnancy and cardiovascular complications. These women constitute a target group for counseling, monitoring and possibly lifestyle or pharmacological interventions.

Objective To investigate the presence and volume of jugular lymphatic sacs (JLS) in first-trimester fetuses with normal nuchal translucency thickness (NT) and in those with increased NT. Methods This was a prospective study of 26 fetuses with NT > 95th percentile, which were compared with 137 fetuses with normal NT. Following crown–rump length (CRL) and NT measurement the neck region of the fetus was studied by transvaginal ultrasound. The JLS presented as spheroidal translucencies in the anterolateral region of the neck. Results The prevalence of JLS differed significantly between fetuses with enlarged NT and the control group (P 3.5 mm, probability = 0.93). In fetuses with JLS, an increase in CRL was associated with a significant increase in right JLS volume (r = 0.51; P-value = 0.01) and a non-significant increase in left sac volume (r = 0.40; P-value = 0.09). Increase in NT was not associated with a significant increase in JLS volume. Conclusion There is a significant association between increased NT and the presence of JLS on first-trimester ultrasound. In our opinion, the pathophysiological explanation for increased NT lies in a disturbance in lymphangiogenesis. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To study intracardiac flow velocities in first-trimester fetuses with normal nuchal translucency thickness (NT) and those with increased NT. Methods Ultrasound examinations were performed in 85 normal fetuses and 45 fetuses with NT > 95th percentile. Follow-up was complete and postmortem examination was performed on terminated pregnancies. Flow velocities during the early (e-wave) and late (a-wave) peaks across the tricuspid and mitral valves were measured and compared, using multilevel analysis, between the fetuses with normal and those with increased NT. In the group with increased NT, fetuses with and without a heart defect irrespective of the karyotype were compared, and in this group, euploid and aneuploid fetuses were compared, irrespective of the presence of a heart defect. Results No difference in intracardiac flow velocities was found between fetuses with normal and those with increased NT. Within the group of fetuses with increased NT, there was no difference between the fetuses with and without a cardiac defect. However, comparison of aneuploid with euploid fetuses within the group with increased NT showed that both the e-wave and a-wave peaks were decreased significantly by 3.03 cm/s and 5.95 cm/s, respectively, across the tricuspid valve, and by 3.47 cm/s and 5.92 cm/s, respectively, across the mitral valve (P < 0.05). The most common cardiac malformations were septal defects. Conclusion There is no difference in intracardiac blood flow velocities between normal fetuses and those with increased NT. This contradicts the theory that NT is caused by impaired atrial contraction or cardiac failure. In fetuses with increased NT, those with aneuploidy show a decreased e-wave and a-wave compared with euploid fetuses. This cannot, however, be explained by the presence of cardiac defects, because there is no difference between fetuses with and without a cardiac defect. Therefore, we hypothesize that the relationship between enlarged NT and cardiac defects can only be explained by a developmental process that coexists at this period of gestation and is linked to cardiovascular development. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.

A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.

C-reactive protein (CRP) is a marker of tissue damage and inflammation. Maternal levels of CRP are elevated in overt preeclampsia, but there is still debate about its use as a predictive marker for preeclampsia during the first and second trimesters of pregnancy. In this study, we measured CRP levels during the first trimester of pregnancy in women who later developed preeclampsia or gave birth to a growth-restricted baby. In total, 107 women from a low-risk population participated in the study, six women developed preeclampsia and nine gave birth to a growth-restricted baby. Although there is a large overlap in measured CRP levels between the three groups, mean CRP levels were significantly elevated in women who later developed preeclampsia (P=0.031) or delivered a growth-restricted baby (P=0.041) when compared with women from the control group, matched for maternal and gestational age, parity, and gravidity. This study shows that in a low-risk population, CRP levels are already elevated between weeks 10 and 14 in pregnant women who develop preeclampsia or deliver a growth-restricted baby.

Objective Transvaginal echocardiography is still rarely incorporated into the first-trimester ultrasound examination, despite the fact that heart defects are the most frequently encountered congenital malformation. This study was undertaken to explore the possibilities of fetal echocardiography in the late first trimester. Methods In 85 women with uncomplicated singleton pregnancies, three transvaginal ultrasound examinations between 11+0 and 13+6 weeks' gestation were performed. The examinations were carried out at weekly intervals and visualization of several echocardiographic planes was attempted (four-chamber view, aortic root, long axis of the aorta, pulmonary trunk with three-vessel view, cross-over of the great arteries). The diameter of the aorta and pulmonary trunk were measured to establish reference ranges. Results The success rate of visualization of the different parameters increased with gestational age. The ability to perform a full cardiac examination increased from 20% in week 11 to 92% in week 13. Longitudinally derived growth curves of the aorta and the pulmonary trunk were constructed and both showed a linear increase with gestational age. Conclusions The best time in the first trimester to perform transvaginal echocardiography is at 13+0 to 13+6 weeks' gestation. In this period, a full cardiac examination is possible in 92% of cases. The increase of success rate compared to earlier studies is likely to result from the use of better resolution, high-frequency transvaginal probes. First-trimester echocardiography provides an opportunity to examine the fetal heart early in gestation, especially in patients at risk for cardiac malformations because of a positive family history or in fetuses with increased nuchal translucency. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology

Objective The aim of this study was to explore the diagnostic accuracy of first-trimester transvaginal echocardiography in fetuses with increased nuchal translucency (NT) thickness, by comparing the ultrasound diagnosis with the findings on postmortem examination or mid-gestational ultrasound and neonatal outcome. Methods Transvaginal echocardiography was performed in 45 fetuses with a NT > 95th centile. Karyotyping was performed in 43. In 20 of the 23 pregnancies in which termination of pregnancy was carried out, postmortem examination was performed to determine the presence and type of heart defect. Mid-gestational echocardiography was performed in ongoing pregnancies and neonatal follow-up information was obtained. Findings on first-trimester transvaginal echocardiography were compared to those of second-trimester echocardiography or the results of postmortem examination. The mean NT in the fetuses with and without heart defects was calculated. Results Of the 45 fetuses, heart malformations were suspected on first-trimester ultrasound in 10 (22%), of which eight (80%) were found to have a chromosomal abnormality. Postmortem examination showed minor additional findings in some cases and major discrepancies occurred in none. Septal defects were the most common defects in trisomic fetuses. In three fetuses with a 45X karyotype, hypoplastic left heart syndrome was diagnosed. Heart defects were diagnosed in three euploid fetuses in which fetal demise occurred. The sensitivity and specificity for the detection of heart defects of transvaginal echocardiography were 88% and 97%, respectively. The mean NT in fetuses with a normal heart (4.3 mm) was significantly smaller than that of fetuses with heart defects (7.4 mm). Conclusion Transvaginal echocardiography can be performed reliably in first-trimester fetuses with an increased NT. In this study, the proportion of chromosomally abnormal fetuses with a heart defect was not different from that found in newborns, except for cases of Turner syndrome. Fetal demise occurred in all three euploid fetuses with a heart malformation. The fetuses with a heart defect had a larger NT than did those without. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology

Our aim is to evaluate the feasibility to examine the morphology and area of the atrioventricular (AV) valves in normal fetuses and fetuses with cardiac defects using spatiotemporal image correlation (STIC).Atrioventricular valves were analyzed longitudinally in STIC volumes of 74 normal fetuses between the 15th and 36th week of pregnancy. The valve area was measured in a rendered view in diastole, the number of valve leaflets in systole. Longitudinal data analysis was performed using linear mixed models. Fifty fetuses with cardiac defects were examined.Examination of 355 STIC volumes of normal fetuses showed in 82.5% sufficient quality. The tricuspid valve leaflets were seen in 200 (68.3%) volumes and the mitral valve leaflets in 219 (74.7%) volumes. The tricuspid valve showed in 61.1% a round, 29.0% rectangle, and 8.9% elliptical shape and the mitral valve in 60.1% round, 28.0% rectangle, and 10.9% elliptical. Regression analysis revealed a positive relationship of the valve area with gestational age (p 0.0001). Most heart defects with stenosis showed an area below the 5th percentile.Prenatal examination of the morphology and area of the AV valves using four-dimensional ultrasound is feasible. A rectangular valve opening is normal, which was visualized in about one third of the normal fetuses.

At 21 weeks of gestation, a 37-year-old woman was referred to our hospital. The fetus showed bradycardia and arrhythmia. Because of glaucoma the woman had previously been treated with timolol eye drops. In this paper a possible association between the timolol eye drops and the fetal cardiac arrhythmia is discussed.

Item does not contain fulltext OBJECTIVE: The differential insertion of the atrioventricular valves is the ultrasonographic representation of the more apical attachment of the tricuspid valve to the septum with respect to the mitral valve. A linear insertion is present when both valves form a linear continuum and has been suggested as a marker for atrioventricular septal defects (AVSDs). The objective of this study was to evaluate the anatomical substratum of differential and linear insertions of the atrioventricular valves in normal fetal hearts and fetal hearts with an AVSD. METHODS: The extent and position of the fibrous skeleton and attachment of the atrioventricular valves to the septum were studied in histological sections of 17 normal hearts and four hearts with an AVSD from 10 + 0 weeks' gestation to 3 days postpartum with various immunohistochemical tissue markers. In addition, spatiotemporal image correlation (STIC) volumes of 10 normal hearts and STIC volumes of eight hearts with an AVSD at 13 + 6 to 35 + 5 weeks' gestation were examined. RESULTS: The differential insertion of the atrioventricular valves was visible in normal hearts in the four-chamber plane immediately beneath the aorta, but nearer the diaphragm a linear insertion was found. In hearts with an AVSD, a linear appearance was observed in the four-chamber plane immediately beneath the aorta. Towards the diaphragm, however, first a differential insertion and, more caudally, a linear insertion was found. CONCLUSIONS: Both differential and linear insertions can be found in normal fetal hearts and fetal hearts with AVSD, depending on the plane in which the four-chamber view is visualized. Therefore, measurement of the differential insertion is likely to be useful only in experienced hands. Copyright (c) 2014 ISUOG. Published by John Wiley & Sons Ltd.

We investigated the development of the skeleton in the embryonic and early fetal period both with ultrasonography and radiology. Eight normal embryos/fetuses were studied weekly with real-time transvaginal sonography between 8 and 16 weeks of gestation to establish the ultrasonographic characteristics of normal ossification. Additionally, ossification was studied in radiographs obtained from five embryos/fetuses between 9 and 14 weeks of gestation. Ossification centers, visualized as increased echogenicity of the bone, were recognized with ultrasonography from 9 weeks onwards. The appearance of primary ossification centers as observed by transvaginal ultrasonography was at the same gestational age or at most 1 week later than when obtained with radiography or whole-specimen staining techniques. Transvaginal ultrasonography enables early visualization of ossification centers in the embryo and fetus. Detailed knowledge of the development of ossification of the skeleton may contribute to early prenatal diagnosis of skeletal dysplasias.

Embryological development was investigated by ultrasonography in a longitudinal study of 18 normal pregnancies. The appearance of midgut herniation was studied and if present, its circumference was valued. In addition, patients with an elevated risk for anomalies were scanned between 10 and 16 weeks of gestation. In 17 fetuses, the diagnosis of omphalocele was made between 11 and 16 weeks. The ratio between the circumference of the omphalocele and abdomen was calculated and the contents of the omphalocele were evaluated. Eight of the fetuses had an abnormal karyotype and a mean omphalocele/abdomen ratio of 0.38 (SD 0.191), whereas the mean ratio of omphalocele and abdomen in the eight euploid fetuses was 0.88 (SD 0.291). Regarding the contents of the omphalocele, mainly bowel loops were eviscerated in all fetuses with an abnormal karyotype. The contents of the omphalocele sac in the euploid cases contained liver in all eight fetuses. In 16 out of 17 anomalous fetuses (91 per cent), associated findings were detected. Nuchal translucency was the most frequently visualized concurrent finding and its occurrence was associated with an abnormal chromosome pattern. A small sac size is a strong indication for aneuploidy, especially in combination with nuchal translucency. Prior to 12 weeks of gestation, the diagnosis of omphalocele can be made in cases of a large omphalocele.

The objectives of this study were to develop reference values for the distance between the atrioventricular valves, called differential insertion of the atrioventricular valves (DIAVV), in normal fetuses using four-dimensional ultrasound with spatio-temporal image correlation and to explore if DIAVV measurement can differentiate between normal hearts and hearts with cardiac defects.The DIAVV was analysed longitudinally following a measurement protocol in 74 fetuses between 15 and 36 weeks gestational age. The DIAVV was measured in an apical four-chamber view of the heart in end-diastole. Furthermore, the DIAVV was measured in 70 fetuses with cardiac defects.In total, 337 normal and 70 abnormal spatio-temporal image correlation volumes were examined. Longitudinal regression analysis revealed a positive relationship of the DIAVV with gestational age and fetal biometry (p 0.0001). The DIAVV of fetuses with double outlet right ventricle, truncus arteriosus, atrioventricular septal defects, Ebstein and tetralogy of Fallot all differed from normal fetuses (p 0.05).Measurement of the DIAVV is a promising tool; however, a well-defined measurement protocol should be followed to accomplish the correct plane and exact moment in the cardiac cycle. This study presents new nomograms following this measurement protocol and reports an abnormal DIAVV in a wide spectrum of congenital heart disease.

OBJECTIVE: Fetal cells circulate in the maternal blood during early pregnancy. Because these cells are rare, noninvasive prenatal diagnosis from fetal cells can be achieved only after efficient enrichment procedures. Our aim was to develop a two-step enrichment procedure to isolate trophoblast cells from 20 ml of peripheral blood. STUDY DESIGN: Blood was obtained from pregnant women between 6 and 15 weeks of gestation, before invasive procedures were performed. After enrichment, the success of isolating fetal cells was determined by amplification of Y chromosome sequences. RESULTS: A highly specific X/Y polymerase chain reaction was established, sensitive enough to detect X and Y chromosome - specific sequences in one single cell and in one male cell among 100,000 female cells. Sex determination by polymerase chain reaction was compared with results from conventional karyotyping. The success rate was 91.7%. CONCLUSION: Enrichment of trophoblast cells from maternal blood as described here might be useful for early noninvasive prenatal diagnosis. (AM J OBSTET GYNECOL 1996;174:871-6.)

The aim of this study was to compare screening performance for Down syndrome of the absolute risk (AR) method to the first trimester combined test (FCT) at different maternal ages.There was a retrospective analysis of 32,448 FCT. AR was defined as final risk divided by maternal age risk.The likelihood of receiving a true prediction was comparable between both methods in all age groups. With the AR method, two extra Down syndrome cases were detected in women30 years, three cases were missed in women ≥36 years, and the likelihood of receiving a false prediction decreased overall (OR 0.82, CI 0.77-0.87; P 0.0001), in women aged 36-40 years (0.45, CI 0.41-0.51; P 0.0001), in women aged 41-45 years (0.18, CI 0.13-0.26; P 0.0001) and increased in women aged ≤25 years (2.12, CI 1.52-2.96; P 0.004).The AR method results in a significant decreased likelihood of receiving a false prediction with a comparable likelihood of receiving a true prediction. Thus, fewer invasive diagnostic tests will be performed. It will take away the misunderstanding about differences in screening performance for women of different ages. This might lead to a higher uptake of first trimester screening resulting in a more efficient screening policy.

Item does not contain fulltext Abstract Complete liver herniation in abdominal wall defects without a membrane is rare and its prognosis is not well documented. We present a case diagnosed at 12 weeks of gestation. At 27 weeks, a C-section was performed for fetal distress. The infant proved impossible to ventilate and died. In literature, 16 similar cases are described of whom 14 died in the neonatal period and two in infancy. This suggests that herniation of the complete liver in isolated abdominal wall defects without a remnant membrane is lethal and counselling should be provided accordingly.

To evaluate marker distribution of free beta-human chorionic gonadotrophin (fbeta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies conceived by assisted reproduction techniques (ART).In vitro fertilization (IVF) (n = 203) and intracytoplasmic sperm injection (ICSI) (n = 192) cases from a database of 14 645 first-trimester combined tests (overall study group) were selected and matched to 1164 controls for gestational age at sample date and maternal age.In the IVF group and ICSI group, lnPAPP-A was lower (IVF 6.74 vs 7.08; P = 0.0001; ICSI 6.59 vs 7.07; P = 0.0001) compared with the matched controls. Lnfbeta-hCG was lower in the IVF group (3.75 vs 3.90; P = 0.005) but not significantly different in the ICSI group (3.87 vs 3.93; P = 0.27). The computed correction factors for PAPP-A and fbeta-hCG were 1.42 and 1.17 for the IVF group and 1.56 and 1.05 for the ICSI group.The false-positive rate (FPR) in the IVF and ICSI group compared with the matched controls was higher (IVF 10.3% vs 8.6% and ICSI 10.9% vs 7.5%). In the overall age-biased [maternal age significantly lower compared with all ART and control groups] study group the FPR was 6.8%.The increase in FPR in the ART groups can be explained by decreased PAPP-A values. Therefore, an adjustment in risk analysis for Down syndrome is suggested.

A disintegrin and metalloprotease 12s (ADAM12s) is a potential first trimester serum marker for fetal trisomy and adverse pregnancy outcome in singletons. In this study, ADAM12s levels in first trimester serum of uncomplicated and complicated twins were evaluated.ADAM12s was studied in maternal serum of 215 twin pregnancies, collected between 2004 and 2008. ADAM12s was measured 'blind to outcome' using AutoDelfia (PerkinElmer, Turku, Finland). As a reference, data from 2423 singletons were used.The median ADAM12s level was increased in euploid twins [1.61 multiples of the median (MoM); n = 209] compared with singletons. The median ADAM12s MoM was significantly lower in monochorionic (1.36 MoM; n = 41) compared with dichorionic twins (1.67 MoM; n = 168) (Mann-Whitney U test, p = 0.005). Trisomy 21 was identified in two pregnancies. Median ADAM12s MoM in twins complicated by hypertensive disorders (1.77 MoM, n = 35) or small for gestational age fetus (1.54 MoM; n = 24) was not significantly different from uncomplicated twins (1.64 MoM; n = 134).Median ADAM12s MoM in euploid twins was increased compared with singletons. Monochorionic had significantly lower median ADAM12s MoM than dichorionic twins. Median ADAM12s MoMs were not significantly different in twins complicated by hypertensive disorders or small for gestational age fetus compared with uncomplicated twins.

Objective To assess the reliability of measurement of fetal cardiac ventricular volume, stroke volume, and ejection fraction with four-dimensional ultrasound using spatiotemporal image correlation (STIC). Methods Volume datasets were collected from two sources: 24 from fetuses over a range of gestational ages and 12 from a miniature balloon model. Datasets were analyzed by three observers, repeatedly in 12 fetal datasets and all balloon datasets. Volume calculations were obtained by manually tracing multiple parallel slices (three-dimensional (3D) slice method). Measurement error was assessed by calculating standard errors of measurement (SEM) and coefficients of variation (CV). Reliability was assessed by calculating interobserver and intraobserver intraclass correlation coefficients (ICC). Results Measurement errors of balloon volumes were small and reliability was good (SEM ≤ 0.07 mL, ICC 0.98–1.00). Fetal ventricle volume measurement error ranged from 0.09 to 0.20 mL and CV from 14.6 to 28.3%. Ventricular volume reliabilities for intra- and interobserver comparisons were greater than or equal to 0.94 and 0.75, respectively. Fetal stroke volume measurement error (SEM 0.17 mL), CV (21.9%) and reliability were measured (intraobserver ICC: left ventricle stroke volume (LVSV), 0.93 vs. right ventricle stroke volume (RVSV), 0.88; interobserver ICC: LVSV, 0.75 vs. RVSV, 0.86). The measurement error decreased with increasing operator experience. The reliability of ejection fraction calculations was poor (ICC < 0.7) for intra- and interobserver comparisons. Conclusions Volume measurements obtained with STIC and 3D slice methods using a balloon model were reliable. In the fetus, measurement errors decreased with increasing operator experience, and reliability was better for stroke volume than for ejection fraction. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To assess the ultrasonographic appearance of the jugular lymphatic sacs (JLS) in first-trimester fetuses with a normal nuchal translucency (NT). Methods Seventy-five fetuses with a normal NT thickness (< 95th percentile) were examined weekly between 11 and 17 weeks of gestation. After measurement of the NT thickness, the neck region was examined using both transvaginal and transabdominal ultrasonography for the presence of JLS. If present, their dimensions were measured in three directions and the volume was calculated using the formula for a spheroid. Data were analyzed using multilevel analysis. Results Seventy-five fetuses were evaluated and a total of 243 ultrasound examinations of the neck region were performed. In 25 (33%) of the 75 fetuses, the JLS could be observed once or more than once. In 19 fetuses JLS were visualized once, in five fetuses twice and in one fetus three times. In total, the JLS were visualized 32 times (n = 15 bilaterally, n = 15 only the left JLS and n = 2 only the right JLS). Relatively greater NT thickness was associated with a higher probability of the presence of JLS, although this was not statistically significant (NT 2 mm, probability 0.20, P = 0.08). Gestational age was predictive for the presence of JLS, with the highest probability between 13 and 15 weeks of gestation (P < 0.01). No relationship was found between gestational age and the volumes of the left and right JLS. Conclusion The JLS can be visualized on ultrasound examination in a significant proportion of fetuses with normal NT, most often between 13 and 15 weeks of gestation, and this does not seem to be associated with any abnormality in these fetuses. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.

Objectives The goal of this study was to use spatiotemporal image correlation (STIC) to provide reference values for left and right ventricle volumes, and indices of fetal cardiac function. Methods In this prospective longitudinal study, STIC volumes were acquired periodically from 12 weeks of gestation onwards. The STIC volumes were frozen in end-systole and end-diastole, and volumetric data were measured by manual tracing and summation of multiple slices. These ventricle volumes were used to calculate stroke volume, ejection fraction and cardiac output. Results Some 202 STIC volumes of 63 fetuses were included in the analysis. Mean left and right ventricle stroke volume increased from 0.02 mL at 12 weeks to 1.41 mL and 1.46 mL, respectively, at 30 weeks, while the mean right to left stroke volume ratio remained stable at around 1.2. Mean left and right ventricle cardiac output increased from 2.40 mL/min and 2.60 mL/min at 12 weeks to 197.74 mL/min and 204.81 mL/min, respectively, at 30 weeks. Both left and right mean ejection fraction remained constant at around 0.45 with advancing gestational age. Bland–Altman analysis showed a coefficient of variation for measured stroke volume of 13.7%. Conclusions This study establishes reference values for fetal cardiac volumes and indices for fetal cardiac function from 12 to 30 weeks of gestation using STIC. STIC seems to overcome many of the pitfalls of conventional ultrasound methods and has the potential to become the method of choice. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.

Objective:Discordance in nuchal translucency measurements in monochorionic diamniotic twin pregnancies was assessed as predictor of Twin-to-Twin Transfusion Syndrome.Study Design:A total of 61 monochorionic diamniotic twins were enrolled. Nuchal translucency (NT) and crown-rump-length (CRL) discordance was calculated as the percentage of delta NT and CRL (absolute difference NT/CRL fetus 1 and fetus 2) of the largest measurement, and correlated with subsequent development of Twin-to-Twin Transfusion Syndrome.Results:Twin-to-Twin Transfusion Syndrome developed in 14/61 (23%) of cases. A NT discordance of 20% or more best predicted Twin-to-Twin Transfusion Syndrome development, with a sensitivity of 64% and a specificity of 78%. We found a positive predictive value of 50% and negative predicted value of 86% for Twin-to-Twin Transfusion Syndrome development if NT discordance was 20% or more.Conclusion:NT discordance of more than 20% in monochorionic diamniotic twins is associated with an increased risk for subsequent development of Twin-to-Twin Transfusion Syndrome, and with earlier presentation of symptoms.

A case of prenatal diagnosed thoracopagus conjoined twins is presented. In thoracopagus twins the cardiovascular system mainly determines the options for separation and survival. Therefore prenatal investigation of this organ system is indispensable. Ultrasound level-2 examination predicted the impossibility of separation and fully matched the autopsy findings. In conclusion, ultrasound examination appears to be an important tool to enable planning of the optimal delivery approach.

Objectives To investigate the feasibility of incorporating spatiotemporal image correlation (STIC) into a tertiary fetal echocardiography program. Methods During the study period all pregnant women fitting our inclusion criteria were enrolled consecutively. Four sonographers participated in the study, one of whom had substantial previous experience of STIC volume acquisition and three of whom did not. STIC volumes were acquired within the time slot allocated for the usual examination and all attempts were recorded. STIC volumes were assessed on acquisition conditions, the quality (as defined by a checklist of cardiac structures that could be visualized), and the rendering abilities. Furthermore, possible learning effects and the influence of experience with STIC on volume acquisition were studied. Results STIC volume acquisition was successful in 75.7% (112/148) of cases in which it was attempted. The more experienced sonographer had a higher success rate in STIC volume acquisition (experienced vs. less experienced, 88.4% vs. 70.5%, P = 0.02). Of all analyzed STIC volumes, 64.8% were of high or sufficient quality. STIC volume quality and rendering ability correlated strongly with the acquisition conditions. High-quality STIC volumes successfully rendered the intracardiac septa in 84.6% of cases. The coronal atrioventricular plane was rendered in 12/26 cases (46.2%). Conclusions This study shows that incorporation of STIC volume acquisition into the daily practice of a tertiary fetal echocardiography program is feasible. Sonographers do not have to be specifically experienced in three- or four-dimensional ultrasound imaging to acquire high-quality STIC volumes. For successful STIC acquisition and subsequent successful analysis, correct acquisition conditions are of major importance. Finally, our results demonstrate that STIC is as susceptible as conventional two-dimensional ultrasound imaging to individual variations and limitations in scanning windows. Copyright © 2008 ISUOG. Published by John Wiley & Sons, Ltd.

Objectives: This study aims to find out whether offering prenatal screening for Down syndrome and neural tube defects influences pregnant women’s attitudes toward having a screening test. Methods: Women were randomised into a group that was offered prenatal screening and a group that was not offered screening (controls). Both groups completed questionnaires before screening was offered, after the offer (not the control group), and in the last trimester of pregnancy. Results: Women with a neutral attitude at baseline who accepted the screening test had a more positive attitude, decliners became more negative and the attitude of the control group did not change. Conclusion: Offering prenatal screening triggers a change in some pregnant women’s attitude regarding prenatal testing. This instability of women’s attitudes may pose a problem for determining whether some women made an informed choice.

To construct reference ranges for spiral artery (SA) flow velocities and examine the possibility to predict intra uterine growth restricted (IUGR) fetuses, pregnancy-induced hypertension (PIH) and/or preeclampsia.Spiral artery flow velocity measurements were performed using Color Doppler between 11 to 13 + 6, between 14 to 17 + 6 and between 18 to 24 weeks of gestation, each measurement was performed twice. Spiral artery flow velocities were analyzed with multilevel modeling: individual regression curves were estimated and combined to obtain the reference intervals for SA flow velocities in normal pregnancies. Mann-Whitney U tests was used to compare the deviation from expected flow velocity between normal and complicated pregnancies.One hundred and eight pregnancies were included; 4 pregnancies were complicated with preeclampsia, 10 pregnancies with IUGR fetuses (P10) and 7 with PIH. In the uncomplicated pregnancies, systolic/diastolic (SD) ratios, resistance index (RI) and pulsatility index (PI) decreased progressively with advancing gestational age. The best fits for SD, RI and PI versus gestational age were linear regression equations. According to these equations, the mean predicted SD ratio decreased from 1.75 at 11 weeks of gestation (P5-P95: 1.32-2.17) to 1.48 at 24 weeks of gestation (P5-P95: 1.01-2.20). The predicted RI en PI showed similar decrement: mean RI from 0.44 (P5-P95: 0.26-0.60) at 11 weeks of gestation to 0.34 (P5-P95: 0.15-0.50) at 24 weeks of gestation, mean PI from 0.59 (P5-P95: 0.31-0.75) at 11 weeks of gestation to 0.40 (P5-P95: 0.11-0.66) at 24 weeks of gestation. The Mann-Whitney tests found no difference in PI, SD-ratio or PI in pregnancies complicated by PE and IUGR fetuses. However, significantly lower RI, PI and SD-ratio were found preclinically in pregnancies complicated by PIH.Spiral artery flow velocities decrease progressively with advancing gestational age. Reference ranges for SA blood velocities are wide and early measurements of PI, RI or SD-ratios are not sensitive enough to predict preeclampsia, PIH or IUGR fetuses. The significantly lower spiral artery impedance values preceding pregnancies complicated by PIH are likely caused by a hyperdynamic circulation in women with preexistent hypertension.

Objectives An accurate and reliable method for measuring fetal lung volumes would be helpful in predicting the outcome in cases with suspected impaired lung growth. Recent studies show that it is possible to obtain fetal lung volume estimations with magnetic resonance imaging (MRI) and three-dimensional (3D) ultrasonography. The purpose of this study was to assess the agreement of lung volumes measured with 3D ultrasonography and MRI in uncomplicated pregnancies. Methods This was a prospective study in which MRI and 3D ultrasonography examinations were conducted on the same day to measure the fetal lung volumes of 10 women with uncomplicated pregnancies. Intraclass correlation was used to evaluate the agreement between fetal lung volume measurements obtained by MRI and 3D ultrasonography. A proportionate Bland–Altman plot was constructed. Results The intraclass correlation coefficient between MRI and 3D ultrasonography measurements for the right lung was 0.92 (95% CI 0.71–0.98) and for the left lung was 0.95 (95% CI 0.82–0.99). The proportionate limits of agreement between the methods were for the right lung − 32.57% to 20.03% and for the left lung − 21.26% to 17.13%. Conclusions There is good agreement between lung volumes measured by MRI and those measured by 3D ultrasonography. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.

Objectives The presence and detectability of placental mRNA in maternal plasma opens possibilities for the development of non-invasive prenatal diagnostic tests. In this study, we tested C21orf105, a chromosome 21-encoded, placentally expressed gene, in maternal plasma of women carrying a fetus with or without trisomy 21. Methods Using real-time RT-PCR, we determined transcript levels of target (C21orf105) and reference (hPL) genes in first-trimester plasma samples. Plasma was obtained from first-trimester EDTA blood after two sequential centrifugation steps and stored at − 70 °C. After RNA extraction, quantitative RT-PCR was performed using Taqman probes. Results From the 51 samples, 43 samples were conclusive. Comparison of transcript levels of C21orf105 in both groups showed no significant differences. When expressed as ratios of hPL/C21orf105, the differences between trisomy 21 and normal pregnancies remained non-significant. Conclusions The amount of C21orf105 mRNA in maternal plasma, although situated in the Down syndrome critical region on chromosome 21 and up regulated in trisomy 21 placentas, is not higher in women carrying a fetus with trisomy 21. Copyright © 2006 John Wiley & Sons, Ltd.

The aim of this study was to evaluate pregnancy outcome and early childhood of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. A total of 63 chromosomally normal fetuses with a first-trimester nuchal translucency thickness of 3 mm or more were evaluated. In ongoing pregnancies, follow-up scans were performed to detect or exclude additional structural anomalies in the fetus. Follow-up of the live-born children was by questionnaires sent to parents or reviews of medical records. In 11 fetuses, additional structural anomalies were diagnosed at follow-up scans; in this group there were five terminations of pregnancy, two intrauterine deaths, two neonatal deaths and two survivors. In addition, there were two unexplained intrauterine deaths. The remaining 50 pregnancies resulted in live births and the parents were sent questionnaires on the follow-up of their children. Responses were received on 34 children at 7-75 months of age. Twenty-nine children are healthy and five showed various minor health problems not related to the presence of increased nuchal translucency. These findings suggest that chromosomally normal fetuses with first-trimester increased nuchal translucency and normal follow-up scans have a good prognosis for a normal early childhood.

To determine the diagnostic value of the combination screening test for Down's syndrome in women in the first trimester of pregnancy.Secondary data analysis.The data from 2026 consecutive combination tests that were carried out in the period 1 May 2001-31 October 2003 in the VU Medical Centre in Amsterdam, The Netherlands, were analysed. The combination test comprised ultrasonographic neck fold measurement together with determination of the serum levels of free human beta-chorionic gonadotrophin and pregnancy-associated plasma protein A. The chance of Down's syndrome in the foetus was calculated using the median values of the Fetal Medicine Foundation (FMF) and medians based on the population in the VU Medical Centre. A chanceor = 1:200 was considered elevated. Follow-up data were collected from the medical records and from patient reports.The data from 25 patients were excluded because of incompleteness of the investigation or the presence of diabetes mellitus in the pregnant subject. Follow-up data were obtained from 1759 of the 2001 remaining women (88%). Of the 1759 women, 49% wereor = 35 years old and 51% wereor = 36 years of age. Down's syndrome was diagnosed in 21 pregnancies, 16 of which were in the advanced maternal age group of patients. The detection percentage of Down's syndrome by nuchal translucency measurement was 67 with 3 false-positives when calculated on the basis of the FMF-medians and 76 with 6 false-positives when calculated on the basis of the VU Medical Centre medians. With the combination test, the detection percentage of Down's syndrome was 86 with 11 false-positives when calculated on the basis of the FMF-medians and 90 with 5 false-positives when calculated on the basis of the VU Medical Centre medians.The diagnostic value of the first-trimester combination test was greater than that of only nuchal translucency measurement. Moreover, the diagnostic value was greater if the chances were calculated on the basis of the median values of the VU Medial Centre population than when other median values were used.

Objectives To construct reference intervals for fetal lung volumes measured longitudinally using three-dimensional (3D) ultrasound, and to evaluate the effect of gender on lung size. Methods This was a prospective, longitudinal study in the obstetric outpatient department of the VU University Medical Center, Amsterdam. Seventy-eight women with uncomplicated pregnancies were scanned three to four times at gestational ages of 18–34 weeks. 3D models of the lung were constructed using the ultrasound machine's software. After the infants were delivered the entire group was reanalyzed with regard to fetal gender. Centiles for the lung volumes of the entire group and for each gender separately were estimated using multilevel modeling. Results Charts and tables of right and left fetal lung volumes, using gestational age and estimated fetal weight as the independent variables, are presented. There was a significant difference in lung volume between male and female fetuses at each gestational age. Charts and tables of right and left fetal lung volumes for each gender at gestational ages of 18–34 weeks are also presented. Conclusions We present valid references for volumetric measurements of the right and left fetal lungs in male and female fetuses. The feasibility and reliability of fetal lung volume measurements using 3D ultrasound is good. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.