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Objectives To evaluate the potential value of early fetal echocardiography (EFE) by means of four-dimensional (4D) spatiotemporal image correlation (STIC) technology for either reassurance of normality or prenatal diagnosis of major congenital heart defects (CHDs). Methods Sixty-nine pregnant women from 11 to 15 weeks' gestation underwent EFE. 4D-STIC volumes were acquired by the transvaginal approach for later review by two different examiners. STIC evaluation was considered complete when the four-chamber view, and the origin and double-crossing of the great arteries were identified correctly. Color Doppler imaging was used to detect either septal shunts or transvalvular regurgitation/aliasing suggesting abnormalities. STIC diagnoses were compared with those of conventional EFE. Reliability was assessed by postnatal examination, or autopsy in cases of termination of pregnancy or perinatal death. Results The median gestational age at volume acquisition was 13 + 3 weeks. Eleven (15.9%) cases of CHD were diagnosed. A complete EFE was possible in 64 cases. We were able to provide reassurance of normality in 51 of the 53 confirmed normal hearts, with no false-positive results for major defects, although two minor defects (one ventricular septal defect (VSD) and one persistent left superior vena cava) were falsely suspected. The only false negative was a significant VSD at birth overlooked by both observers. Therefore, the total accuracy of STIC-EFE was 95.3% (61/64), with sensitivity, specificity, and positive and negative predictive values of 90.9%, 96.2%, 83.3% and 98.1%. The accuracy of conventional EFE (98.4%, 63/64) was slightly better than that of STIC, with no false-positive results recorded. Conclusions Offline evaluation of 4D-STIC acquired volumes of the fetal heart in the first and early second trimester of pregnancy is reliable not only for early reassurance of normal cardiac anatomy but also to diagnose most major structural heart defects. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.

To evaluate a classification of selective intrauterine growth restriction (sIUGR) in monochorionic (MC) twins based on the characteristics of umbilical artery (UA) Doppler flow in the smaller twin, in terms of association with clinical outcome and with the pattern of placental anastomoses.One hundred and thirty-four MC twins diagnosed with sIUGR at 18-26 weeks were classified as Type I (UA Doppler with positive diastolic flow, n = 39), Type II (persistent absent or reversed end-diastolic flow, n = 30) and Type III (intermittent absent or reversed end-diastolic flow, n = 65). Perinatal outcome, placental sharing and the pattern of anastomoses were compared with those in 76 uncomplicated MC twins.Mean gestational age at delivery was 35.5 (range, 30-38) weeks in controls, 35.4 (range, 16-38) weeks in Type I, 30.7 (range, 27-40) weeks in Type II (P0.0001) and 31.6 (range, 23-39) weeks in Type III (P0.0001) pregnancies. Fetal weight discordance was significantly higher in Type II (38%) and Type III (36%) than in Type I (29%) (P0.0001) pregnancies. Deterioration of the growth-restricted fetus occurred in 90% of Type II cases, compared with 0% and 10.8% of Types I and III, respectively (P0.001). Unexpected intrauterine fetal death of the smaller twin occurred in 15.4% of Type III cases, compared with 2.6% and 0% of Types I and II respectively (P0.05). Parenchymal brain lesions in the larger twin were observed in 19.7% of Type III cases and less than 5% in the other groups (P0.05). Placental discordance (larger/smaller) was 1.3 in controls, compared with 1.8, 2.6 and 4.4 in Types I, II and III, respectively (P0.01). The proportion of cases with arterioarterial anastomoses2 mm in diameter was 55% in controls, 70% in Type I, 18% in Type II (P0.01) and 98% in Type III (P0.01).sIUGR can be classified on the basis of umbilical artery Doppler into three types that correlate with different clinical behavior and different patterns of placental anastomoses. This classification may be of help in clinical decision-making and when comparing clinical studies.

Objectives To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with chromosomal and extracardiac anomalies including nuchal translucency (NT) and the outcome after diagnosis. Methods Data of 14 fetuses with confirmed APVS retrospectively collected in two tertiary referral centers between 1998 and 2004 were analyzed. The variables examined were: reason for referral, gestational age at diagnosis and associated abnormalities, including first trimester NT thickness. Cardiac evaluation included measurement of cardiothoracic ratio, diameter of pulmonary arteries and Doppler flow in the pulmonary trunk. Information was retrieved from clinical files, recorded videotapes and stored images. Karyotyping including examination for the 22q11 deletion was performed in all cases. Results Mean gestational age at diagnosis was 28 weeks, with 5/14 (36%) diagnosed before 22 weeks. In 13/14 (93%) there was an associated ventricular septal defect (subaortic in 12 fetuses and inlet-type in one) and all 13 had tetralogy of Fallot. Enlargement of the central pulmonary arteries and cardiomegaly were present in all cases diagnosed after 22 weeks. Of the five fetuses in which APVS was detected before 22 weeks, four (80%) had a normal pulmonary trunk diameter, two (40%) had normal pulmonary branches and three (60%) had normal cardiac size. The arterial duct was absent in 11/14 (79%). A correlation between presence of the arterial duct and the size of the central pulmonary arteries or cardiomegaly could not be established. Increased NT was observed in 4/10 cases (40%) for which this information was available. 22q11 microdeletion was diagnosed in three fetuses (21%). There were five terminations of pregnancy, one intrauterine death, five neonatal deaths and one infant death. Of the six neonates with respiratory distress, only one (17%) survived and of the eight babies in whom there was an intention to treat, two survived (25%). Conclusions APVS can be accurately diagnosed by fetal echocardiography but screening ultrasound in the mid-second trimester is likely to have a low detection rate, probably due to the incomplete expression of the disease at this point. Many fetuses with APVS have an increased NT in the first trimester and this may help an earlier recognition of the defect. The most common associated karyotype anomaly is 22q11 microdeletion. Enlargement of the central pulmonary arteries is mainly related to the gestational age at diagnosis. Our results confirm that the outlook for these patients is extremely poor. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Objectives To analyze the interobserver reliability of measurement of the middle cerebral artery (MCA) pulsatility index (PI) at two different sampling sites. Methods This study included 100 consecutive singleton pregnancies between 24 and 40 weeks with normal fetal growth. The PI was calculated by two independent operators at proximal and distal sampling sites of the near-field MCA. Reliability analyses were performed between observers at each sampling site by means of the intraclass correlation coefficient (ICC) for agreement. Differences between observers were explored and agreement limits calculated by means of the Bland–Altman test. Results Satisfactory flow velocity waveforms were obtained successfully in each fetus at both sampling sites. Peak systolic, end-diastolic and time-averaged maximum velocities were significantly higher at the proximal compared with the distal sampling site. Conversely, PI was significantly higher at the distal compared with the proximal site. ICCs for PI were 0.3 and 0.33 at the proximal and the distal sampling sites, respectively. The 95% interval of the PI differences between observers were + 0.91 and − 1.14 at the proximal and + 1.03 and − 1.08 at the distal sampling sites. In about 30% of the cases the PI difference between observers was greater than 0.5 at both sampling sites. Conclusions Moderate interobserver reliability in the measurement of end-diastolic and time-averaged maximum MCA flow velocities results in limited agreement of the PI calculation at both proximal and distal sampling sites. These results may preclude its clinical applicability. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To compare the reliability of Doppler blood flow measurements of the fetal aortic isthmus (AoI) according to whether the sampling plane is obtained from the traditional longitudinal aortic arch (LAA) view or the more recently described three vessels and trachea (3VT) view of the fetal upper mediastinum. Methods Doppler blood flow measurements of pulsatility index (PI), resistance index (RI), peak systolic (PSV), end-diastolic (EDV) and time-averaged maximum (TAMXV) velocities were performed in the AoI of 40 fetuses between 24 and 36 weeks of gestation. All measurements were sampled in two different sonographic planes of the AoI: the LAA view, at a few millimeters beyond the origin of the left subclavian artery, and the 3VT view, just before the V-shaped junction of the aortic and ductal arches. All scans were performed by the same observer. The reliability of Doppler blood flow measurements was assessed by calculating intraclass correlation coefficients (ICCs) and limits of agreement between the two different sonographic sites evaluating the AoI. Results Mean values of PI, RI, PSV, EDV and TAMXV were similar in the LAA and 3VT views. The PI and vascular velocities were reliably measured from both sonographic sites. ICCs for variability of measurements were 0.78, 0.63, 0.63, 0.60 and 0.55 for PI, RI, PSV, EDV and TAMXV, respectively. Limits of agreement revealed minimal disagreement between the two sites of evaluation of the AoI for all measurements. Conclusions On the basis of our observations, Doppler blood flow measurements across the fetal AoI can be reliably obtained from both the 3VT and the traditional LAA sonographic views. Since the transverse upper thoracic 3VT plane is achievable in most fetal positions, Doppler study of the AoI appears to be easier than expected. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To estimate direction and volume of blood exchange between the donor twin and recipient twin by ultrasound assessment of blood flow in the umbilical vein before and after selective laser photocoagulation of communicating vessels (SLPCV) for twin–twin transfusion syndrome (TTTS). Methods Forty-one TTTS patients underwent Doppler examination of the umbilical vein before and 24 h after SLPCV. The diameter and mean time-averaged velocity of the umbilical vein were estimated. Total umbilical venous flow (TUVF) was calculated as follows: TUVF (mL/min) = mean time-averaged velocity (cm/s) × mean cross-sectional area (cm2) × 60 (s). Results TUVF was significantly higher in the recipient (111.2 mL/min) than in the donor twin (44.8 mL/min) before SLPCV (P < 0.0001). However, TUVF was no different between the recipient and the donor twin after SLPCV (93.1 vs. 70.7 mL/min, recipient and donor twin, respectively, P = 0.11). The donor twin's TUVF increased after surgery (P < 0.0001), while the recipient twin's TUVF decreased (P = 0.041). The median postoperative increase in the donor twin's TUVF of 25.9 mL/min had a corresponding decrease of TUVF in the recipient twin of 18.1 mL/min (P = 0.27). Conclusions Our data suggest that untreated TTTS is characterized by excessive umbilical venous blood flow in the recipient twin relative to the donor twin. Laser surgery results in concordant changes in umbilical venous flow in opposite directions between the donor and recipient twins, eliminating the initial imbalance. Our results lend support to the fundamental hypothesis of unbalanced blood flow exchange (net flow from donor to recipient) between monochorionic twins as the cause for TTTS and that laser surgery eliminates the pathophysiological cause. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.

Objective The aim of our study was to obtain measurements of the jugular vein and carotid artery pulsatility index (PI) at 10–14 weeks' gestation in chromosomally normal and abnormal fetuses with or without increased nuchal translucency (NT), in order to explore whether a relationship exists between increased NT and overperfusion of the head. Methods This was a prospective study involving 179 pregnant women at high risk for chromosomal anomalies or structural malformations who were referred for chorionic villus sampling or first-trimester ultrasound examination at 10–14 weeks' gestation, respectively. Color and pulsed Doppler ultrasound were used to obtain jugular vein and carotid artery blood flow velocity waveforms at the level of the mid-neck. All Doppler measurements were obtained by a single investigator. The PIs of the jugular vein and carotid artery were correlated with NT measurement and fetal karyotype. Results Doppler measurements of the jugular vein and carotid artery were successfully obtained in 90.5% of the fetuses. The fetal karyotype was abnormal in 13 cases, including three trisomies 21 and two trisomies 18, and normal in 149 cases. In the group with normal karyotype the NT was above the 95th percentile in 22 cases (15%). No correlation between the jugular vein or the carotid artery PI and the thickness of the NT was found. There were no significant differences when comparing the values of the jugular vein and carotid artery PI between the group with normal NT and the group with increased NT, or between the group with a normal karyotype and an abnormal karyotype. Conclusion Our results suggest that NT is not related to blood flow impedance in either the carotid artery or the jugular vein. Overperfusion and venous congestion of the head do not appear to be a causative pathophysiological mechanism involved in increased NT. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To compare Doppler evaluation of the ductus venosus and contraction stress test (CST) in the prediction of adverse perinatal outcome in growth-restricted fetuses with evidence of hemodynamic redistribution and a non-reactive non-stress test (NST). Methods Data were collected from all singleton pregnancies seen in our Fetal Surveillance Unit who underwent antenatal monitoring for fetal growth restriction, non-reactive NST and arterial redistribution beyond 26 weeks of pregnancy. Patients were divided into four groups based on their CST and ductus venosus waveform results. Perinatal outcome was evaluated by means of four variables: the need for admission to the neonatal intensive care unit (NICU), need for neonatal intubation, an umbilical artery pH < 7.10 and significant neonatal morbidity. Outcome was compared among fetuses delivered within 3 days of their antenatal test. Logistic regression analysis was used to analyze the relation between predictive and outcome variables. Results Sixty-eight women met the inclusion criteria for the study. The positive predictive value of the CST was 45% for admission to the NICU, 13% for significant neonatal morbidity, 26% for need of neonatal intubation and 29% for umbilical artery pH < 7.10. The positive predictive values of abnormal ductus venosus waveform (ADVW) were 81.5%, 26%, 48% and 55%. Groups with ADVW showed significantly poorer neonatal outcome. No significant differences were observed when CST results were compared. Logistic regression analysis showed that both gestational age at delivery and ADVW significantly predict the occurrence of adverse perinatal outcome. Conclusion In growth-restricted fetuses with hemodynamic redistribution and a non-reassuring NST, Doppler assessment of the ductus venosus correlates with adverse perinatal outcome. In this clinical situation there is no benefit of CST in terms of prediction. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

A ventricular diverticulum associated with a large pericardial effusion was diagnosed at 13 weeks of gestation. The pericardial effusion resolved spontaneously by 20 weeks and the diverticular size remained the same during pregnancy. In the postnatal period the neonate underwent surgical correction of both the diverticulum and associated ventricular and atrial septal defects. Our case indicates that congenital ventricular diverticulum may be associated with a good perinatal outcome.

Klippel Trenaunay syndrome is a rare congenital disease that is characterized by a triad of cutaneous capillary malformations, varicose veins and hypertrophy of bone and soft tissue, usually asymmetric in its presentation (a single extremity). This disease tends to be sporadic, with very few familiar occurrences and postulated to be related to a somatic mutation for a critical angiogenetic-vasculogenetic factor during embryonic development. The prenatal diagnosis of this syndrome has been scantly referred. We present the case of a 29 year old pregnant woman, with two previous normal pregnancies and babies, who came to our unit for a routine morphologic scan at 18.4 weeks. First trimester scan had not been performed. The fetus was structurally normal, with a choroid plexus cyst and single umbilical artery. The most striking findings were the presence of cystic and heterogenous images affecting both legs, from the gluteus to below the knee, with predominance of the left one. A significant asymmetry between both legs, specially in thickness, was seen. An additional cystic image was found below the left kidney. Angiopower color Doppler demonstrated increased vascularisation of the mass. Karyotype by amniocentesis shown to be normal 46XX. In view of all of these findings, with asymmetric limb hypertrophy and the presence of multiple hemangiomas, and arteriovenous fistulas, a very likely diagnosis of Klippel Trenaunay syndrome was suggested to the parents. After extensive counselling, parents opted for termination of pregnancy at 20.4 weeks. Pathological examination results confirmed the diagnosis.

Objectives: Twin–twin transfusion syndrome (TTTS) results in significantly altered cardiovascular loading conditions, which may affect both donor and recipient myocardial properties. Myocardial deformation analysis using Vector Velocity Imaging (VVI, Siemens) is an angle independent, speckle-tracking technique used to assess regional cardiac mechanics, which may provide insight into our understanding of myocardial dysfunction in TTTS. Methods: Digital dynamic, two-dimensional four chamber views were interrogated off-line using VVI software. Global longitudinal strain (S%) systolic strain rate (SRs) and diastolic strain rate (SRd) were measured in the left (LV) and right (RV) ventricles of 22 fetal pairs with TTTS and compared to 25 gestational age-matched normal controls. Pulsatility indices (PI) for umbilical (UA) and middle cerebral artery (MCA) were calculated. Results: Gestational age at evaluation was 20.5 ± 1.3 weeks. Donor LV-SRs was higher, while donor RV-SRd was significantly lower than controls (Table 1). Recipient S%, SRs and SRd were significantly lower for both LV and RV in comparison to controls. Donor UA PI was higher than controls (1.93 ± 0.48 vs. 1.41 ± 0.25, P < 0.001) while donor MCA PI was lower (1.47 ± 0.29 vs. 1.87 ± 0.21). Recipient UA and MCA PI were no different than controls. Conclusions: In TTTS, donor mechanics reflect loading conditions. Donor LV systolic function is hyperdynamic, due to hypovolemia and ejection into a low resistance cerebrovascular circuit while the RV ejects into a high resistance placental circuit. Recipient RV and LV are both globally depressed with systolic and diastolic dysfunction despite normal vascular resistances and presumed volume overload, suggesting intrinsic acquired cardiomyopathy.

Objectives: To describe the accuracy of diagnosis, associated anomalies and perinatal survival of fetuses diagnosed with double outlet right ventricle (DORV). Methodolgy: During a four-year period, DORV was diagnosed in 15 fetuses. Their medical records were reviewed and analyzed. Reliability of diagnosis was assessed by postnatal examination and autopsy in cases of termination of pregnancy or perinatal death. Results: The median maternal age was 31 years-old (range 16–40) and the median gestational age at diagnosis 21 weeks (range 15–33). The indication for examination was an abnormal screening ultrasound in 13 cases and an increased nuchal translucency in the remaining 2 cases. Additional cardiac lesions detected were: mitral atresia with hypoplastic left ventricle (n = 5), pulmonary stenosis (n = 3), coarctation of the aorta (n = 4). Transposition were the most common arrangement of the great arteries (n = 12). Chromosomal abnormalities were found in 5 cases (33%): 1 trisomy 21, 2 trisomies 18 and 2 microdel 22q11-. All the diagnoses were confirmed at follow-up, 10 parents opted for termination (67%), 3 cases died either before or after surgery, and only 2 of the infants (13% of the whole group, 40% of the intented to treat) survived beyond 28 days. Conclusions: Prenatal diagnosis of DORV is highly accurate. The prognosis is extremely poor, not only related to the primary lesion but also depending on the associated chromosomal and intra-cardiac anomalies.

Objectives: Monitoring growth restricted fetuses involves serial measurements of the middle cerebral (MCA) and umbilical artery (UA) pulsatility index (PI). The cerebroplacental ratio, i.e. MCA PI/UA PI, is a useful combination of the two indices. However, currently used reference ranges for the cerebroplacental ratio are based on cross-sectional data. For serial assessments reference ranges should be based on longitudinally derived data. Our aim was to establish longitudinal reference ranges and provide terms for calculating conditional mean and ranges for serial measurements in individual fetuses. Methods: 161 women with low-risk pregnancies were recruited to this prospective longitudinal study. The cerebroplacental ratio was determined using Doppler ultrasound. Each fetus was examined 3–5 times during the second half of pregnancy. Multilevel modeling was used in order to calculate means and percentiles, and terms for the conditional repeat measurement in individual fetuses. Results: A total of 550 sets of observations of the MCA and UA PI were included in the statistics. The cerebroplacental ratio changes with gestation during the second half of pregnancy in an inverted Ushaped fashion (Table). When compared with the non-conditional ranges, the conditional ranges are typically narrower and shifted towards the index measurement.

with NHA coexisting with trisomy 21. In normal fetuses Teiindex for LV was 0.41 ± 0.08 and for RV – 0.38 ± 0.1; ductus venosus PIs were unchanged; mean Ha/Ca was 0.21 ± 0.04 and Hc/Cc – 0.49 ± 0.18. Conclusions: 1. Successful visualization of the heart is possible from 11 weeks’ gestation. 2. Fetal heart size at 11.0 to 13.6 weeks is smaller comparing to second and third trimester. 3. Teiindex is measurable at 11.0 to 13.6 weeks and it’s value is similar to the published data of Tei-index in second and third trimester.

Graves’disease is the most common cause of hyperthyroidism in pregnancy and may cause fetal and neonatal thyroid dysfunction. A case of maternal Graves’disease treated with propylthiouracil (PTU) is presented and prenatal detection and management of fetal goiter are discussed. A 30-year-old-woman, gravida 3, para 2, with Graves’disease was treated with 300 mg/day PTU. Maternal serum concentration of free thyroxine (FT4) was 0.9 ηg/dL (normal 0.6–1.54), thyroidstimulating hormone (TSH) 2.28 mU/L (normal 0.5–4.2) and TSH-receptor autoantibody (TRAb) 14% (normal less than 12%). Fetal thyroid enlargement was noted by sonography at 25 weeks’ gestation. Cordocentesis was performed to assess fetal thyroid function. The fetal serum FT4 was 0.9 ηg/dL (normal 2.3–2.7) and TSH was 98.65 mU/L (normal 8.7–10.5) indicating hypothyroidism. PTU was decreased to 150 mg/day and the fetus was treated with injection of L-thyroxine (250 μg) into amniotic fluid at 32 and 35 weeks’ gestation. The patient remained euthyroid and serial ultrasound scans showed a shrinking of the fetal goiter. Spontaneous onset of labor occurred at 39 weeks’ gestation. The male neonate weighed 2630 g with no discernible thyroid enlargement. The thyroid function tests at birth and on 16th day of life showed euthyroid status. Maternal antithyroid antibodies in patients with Graves’disease, known as THS-receptor autoantibodies (TRAb), can result in stimulation or inhibition of fetal thyroid gland. PTU treatment of Graves’disease in pregnancy may be associated with neonatal goitrous hypothyroidism whereas transplacental passage of stimulating immunoglobulin may cause fetal goiter with hyperthyroidism. Therefore, when fetal goiter is detected, cordocentesis should be offered to assess fetal thyroid function. In cases of fetal hypothyroidism, intra-amniotic injection of thyroxine has shown to be effective in raising serum levels of thyroxine, reducing those of TSH and decreasing the size of goiter.