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Screening ultrasound during pregnancy has an established role and a defined scope that has increased over the years. Diagnostic possibilities with newer ultrasound systems can help in particular in referral settings and for a more detailed analysis of various fetal organ systems. In particular for the fetal heart there is a clear benefit with regard to neonatal morbidity and mortality. [ABSTRACT FROM AUTHOR]

Screening ultrasound during pregnancy has an established role and a defined scope that has increased over the years. Diagnostic possibilities with newer ultrasound systems can help in particular in referral settings and for a more detailed analysis of various fetal organ systems. In particular for the fetal heart there is a clear benefit with regard to neonatal morbidity and mortality. [ABSTRACT FROM AUTHOR]

Objective To evaluate the outcome of euploid fetuses with increased nuchal translucency thickness (NT) expressed in multiples of the median (MoM) or delta-NT. Methods Included in the study were euploid fetuses with increased NT ≥ 95th centile, for which information about pregnancy outcome was available. The following parameters were defined as an adverse outcome: miscarriage, structural anomalies justifying termination of pregnancy, and structural anomalies, genetic syndromes and neurodevelopmental problems diagnosed postnatally. Fetal outcome according to NT MoM and delta-NT was calculated using different cut-off values. Calculations of the odds ratio for adverse outcome were performed using either NT MoM or delta-NT as a predictor in logistic regression models. Results The study comprised 168 euploid fetuses. Of these, 38 (23%) had an adverse outcome: 11 (6%) had miscarriages, 14 (8%) were terminated because of fetal abnormalities detected on the prenatal scan and 13 (7%) were found postnatally to have abnormalities. The incidence of cases exhibiting an adverse outcome was 5.3%, 19.2% and 58.5% for NT values of 1.6–1.9, 2.0–3.0 and > 3.0 MoM, respectively (P < 0.0001, χ² test), and 3.9%, 16.7% and 62.8% for delta-NT values of 1.0–1.4, 1.5–2.5 and > 2.5 mm, respectively (P < 0.0001, χ² test). Using cut-offs of 2.0 MoM and delta- NT of 1.5 mm, the odds ratios for adverse outcome were 10.2 (95% CI, 3.4–30.4) and 15.4 (95% Cl, 4.2–43.6), respectively. Conclusion Both the NT MoM and delta-NT approaches may be used to determine cases which require additional antenatal investigation as well as fetal karyotyping. For this purpose we suggest using a cut-off of either 2.0 MoM or a delta-NT of 1.5 mm. [ABSTRACT FROM AUTHOR]

ABSTRACTObjectiveTo examine the effectiveness of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation in Germany, Austria and Switzerland. MethodsThis was a multicenter study of screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. All the sonographers involved in the study had received The Fetal Medicine Foundation Certificate of Competence in the 10–14-week scan. Fetal nuchal translucency thickness and crown–rump length were measured in 23 805 singleton pregnancies with live fetuses. In each case the risk for trisomy 21 was estimated on the basis of maternal age and fetal nuchal translucency thickness for crown–rump length with the use of The Fetal Medicine Foundation’s software. The distribution of estimated risk was determined and the sensitivity and false-positive rate for a risk cut-off of 1 in 300 was calculated. ResultsFetal nuchal translucency thickness was successfully measured in all 23 805 pregnancies and outcome was available in 21 959. The median maternal age was 33 (range 15–49) years and in 7935 (36.1%) the age was 35 years or greater. The median gestation at screening was 12 (10–14) weeks and the median fetal crown–rump length was 61 (range 38–84) mm. The estimated risk for trisomy 21 based on maternal age and fetal nuchal translucency thickness for crown–rump length was 1 in 300 or greater in 13.0% (2800 of 21 475) normal pregnancies, in 87.6% (184 of 210) of those with trisomy 21 and in 87.2% (239 of 274) with other chromosomal defects. ConclusionsIn Germany, Austria and Switzerland the results of screening for chromosomal defects by measurement of fetal nuchal translucency thickness, in centers with appropriately qualified sonographers and using The Fetal Medicine Foundation’s software, are similar to those reported in the UK using the same methodology. [ABSTRACT FROM AUTHOR]

Objective To explore the potential of embryofetoscopy for early diagnosis and for access to the fetal circulation in the first trimester of gestation. Design Transabdominal embryofetoscopy was performed in 14 patients scheduled for termination of pregnancy using a 1-mm semirigid fibreoptic telescope with a 18 gauge examination sheath and a single-chip digital camera. A 25 gauge needle was inserted through an additional 21 gauge side port to access the fetal circulation. Results Fetal head, face, abdomen, complete upper and lower limbs could be visualized in over 80% of cases. On the contrary, the fetal back and external genitalia could be examined in detail only in some cases (35.7% and 64.3%, respectively). Injection of 10–20 ml saline improved visibility in 43% of cases. Funipuncture was successful in two of three attempts. Conclusions Our experience suggests that embryofetoscopy is a useful tool for early diagnosis in the first trimester of pregnancy. Funipuncture is possible thus providing the means for an early intravascular stem cell application. [ABSTRACT FROM AUTHOR]

The aim of this study was to compare volumetric capabilities in vitro between two different three-dimensional technical modalities with a transvaginal transducer. We intended to evaluate the effect of different sizes and shapes on the accuracy of the measurements, and to establish criteria for choosing the appropriate system for three-dimensional volume measurement. We did not find significant differences between the two systems, either in the results or in their operation. We confirmed the high accuracy of three-dimensional volume measurements in vitro. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented discussing the use of virtual reality objects for teaching and learning gynecological ultrasonography.

Objectives It is generally agreed that intrauterine devices (IUDs) with visible strings in pregnancy should be removed because of the increased risk of miscarriage, septic complications and premature delivery. The precise management of pregnancies in association with so-called ‘lost IUDs’, and especially the technique of their removal, has remained controversial. We present our experience of the management of intrauterine pregnancies with a lost IUD. Methods Ultrasound-guided extraction of a lost IUD was performed in 82 intrauterine pregnancies. The subsequent outcome of the pregnancies is described. Results There were no intra- or post-procedure maternal complications. Although the miscarriage rate in the first 3 weeks after the procedure was higher than that in normal pregnancy, the complication rate approached that of normal pregnancy as the pregnancies progressed. The total miscarriage rate of 22% was comparable to that following extraction of IUDs with visible filaments. The rate of live births was 77.0%. Delivery before 37 weeks occurred in 13.5% of cases. Conclusions Ultrasound-guided extraction is a minimally invasive and inexpensive procedure that is associated with few postoperative complications. It has a high success rate and is associated with a moderate miscarriage rate and no maternal complications. [ABSTRACT FROM AUTHOR]

Objectives: To construct charts for cervical length in a low risk population measured by transvaginal ultrasonography.Methods: Pregnant women of an apparently normal population were seen in the ultrasound division of the University Women's Hospital Basel between 20 and 34 weeks of gestation and underwent once (one measurement per subject) a transvaginal ultrasound measurement of the cervix under standardized conditions. In order to establish normal values of the cervical length, finally only women who delivered spontaneously at term (>37 weeks of gestation) remained in the study. Exclusion criteria were preterm labor, multiple pregnancies, cerclage or surgical intervention prior to pregnancy. For statistical evaluation, regression analysis and calculation of 5th and 95th percentiles were performed.Results: A total of 669 cervical measurements were recorded. The number of measurements differed from 22 measurements at 23 weeks of gestation to 86 at 31 weeks of gestation. Cervical length gradually and significantly decreased as the gestational age progressed (between 20 and 34 weeks of gestation). New charts with the 5th, 50th and 95th percentile are presented and compared with previously published data.Conclusions: Our charts for cervical length in a limited risk population can be used for observing patients at high risk of preterm delivery and for clearly identifying a significant deviation or decline in the percentile for these subjects. [ABSTRACT FROM AUTHOR]

Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well-characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family-based whole-exome sequencing in order to identify causal variants for a recurrent pattern of an undescribed lethal fetal congenital anomaly syndrome. The clinical signs included intrauterine growth restriction ( IUGR), severe microcephaly, renal cystic dysplasia/agenesis and complex brain and genitourinary malformations. The phenotype was compatible with a ciliopathy, but not diagnostic of any known condition. We hypothesized biallelic disruption of a gene leading to a defect related to the primary cilium. We identified novel autosomal recessive truncating mutations in KIF14 that segregated with the phenotype. Mice with autosomal recessive mutations in the same gene have recently been shown to have a strikingly similar phenotype. Genotype-phenotype correlations indicate that the function of KIF14 in cell division and cytokinesis can be linked to a role in primary cilia, supported by previous cellular and model organism studies of proteins that interact with KIF14. We describe the first human phenotype, a novel lethal ciliary disorder, associated with biallelic inactivating mutations in KIF14. KIF14 may also be considered a candidate gene for allelic viable ciliary and/or microcephaly phenotypes. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective To construct tables for ‘bedside’ estimation of Down syndrome risk based on maternal age and nuchal translucency measurements. Methods Likelihood ratios were calculated using the log multiple of median Gaussian model. The parameters for the model (mean and standard deviation) were derived from 5560 normal and 51 Down syndrome-affected pregnancies scanned during the first trimester in three different centers. Equations for calculating maternal background risk and median values were obtained from previous reports. The results were compared to two modalities using the log Gaussian model and software that uses the delta-value model. Results The distribution fitted the data well, and the parameters obtained in the study group for the log multiple of median model were a mean of 0 and a standard deviation of 0.12356 among normal pregnancies and a mean of 0.305312 and a standard deviation of 0.240337 among Down syndrome-affected ones. The likelihood ratios obtained for the various combinations of fetal crown–rump lengths and nuchal translucency measurements were comparable to other modalities reported earlier. Conclusions The results of the current study provide useful tables for simple and accurate ‘bedside’ estimation of Down syndrome risk without the need for computerized software or complicated calculations. [ABSTRACT FROM AUTHOR]

Abstract Fetal tumors are rare and can be difficult to diagnose in utero. This report describes one case of an extrarenal rhabdoid tumor and one case of a giant congenital melanocytic nevus. Both presented with moderate polyhydramnios and were prenatally detected at 31 weeks of gestation with two-dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of these tumors especially for the parents and the multidisciplinary team. Three-dimensional sonography proved to be a valuable addition to the prenatal armamentarium for the evaluation of these fetal tumors although it is not mandatory for their assessment and clinical management. [ABSTRACT FROM AUTHOR]

ABSTRACT We report a case of a prenatally diagnosed infratentorial subdural hemorrhage. The hematoma located in the posterior cerebral fossa was detected by conventional ultrasound at 24 weeks of gestation. Intrauterine magnetic resonance imaging confirmed the diagnosis. Autopsy of the fetus revealed a well-circumscribed subdural hematoma. The prenatal findings of intracranial bleeding located in the posterior fossa and the prognosis of such cases are discussed. [ABSTRACT FROM AUTHOR]

An abstract of the conference paper "The suitability of STIC for obtaining a 'second opinion': pilot study" by A. Wagner and colleagues is presented.

Umbilical cord anomalies can often be detected prenatally by ultrasound, but a definitive prenatal diagnosis is not always possible. We present a case with increasing edema of the Wharton's jelly followed by the development of pseudocysts in the proximal umbilical cord due to a patent urachus. The first abnormal findings were detected by ultrasound in the 14th week of gestation. Differential diagnoses and their influence on surveillance and birth management are discussed. [ABSTRACT FROM AUTHOR]

ABSTRACT The split hand split foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. In our case it was detected early by ultrasound in the twelfth week of gestation. To our knowledge, this is the earliest finding by ultrasound of this malformation. The sonographic findings were bilateral split hands and split foot. No other associated malformation was observed. The pathological findings were consistent with the diagnosis of split hand split foot malformation. Prenatal diagnosis, the genetic background, and the differential diagnosis are discussed. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Umbilical-cord ligation of an acardiac twin by fetoscopy at 19 weeks of gestation," by R.A. Quintero and colleagues in the February 17, 1994 issue.

An abstract of the conference paper "Low serum PAPP-A values in early pregnancy and adverse pregnancy outcome," by D. Huang and colleagues is presented.