Following FSLC for TTTS, prenatal brain damage occurs in 2% of cases and is associated with incomplete surgery.

Objective Fetal biometric data are a major part of prenatal ultrasound screening in the general population. The aim of this study was to analyze the effect of choice of reference curve on the quality of screening for growth abnormalities, using a statistical tool based on Z-scores. Methods The biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur length (FL) were measured in 9699 ultrasound scans during the second trimester (20-24 weeks of gestation) and 8100 scans during the third trimester (30-34 weeks of gestation). These biometric data were all transformed retrospectively into Z-scores, calculated using five reference curves: those published by Snijders and Nicolaides (1994), , and Salomon et al. (2006), and curves used at our ultrasound unit generated from a sample of the local population. The Z-score distribution was compared with the expected normal distribution by calculation of the mean and SD, and using the Kolmogorov-Smirnov test. The sensitivity and specificity of each reference curve were calculated to determine the capacity of these curves to identify fetuses with measurements < 5 th percentile or > 95 th percentile for each parameter. Results Most of the distribution curves determined from the Z-scores of the measurements taken differed significantly from a non-skewed standard normal curve (mean of 0 and SD of 1). In our population, the Chitty reference curves gave the best results for identifying fetuses with abnormal (< 5th percentile or > 95 th percentile) BPD (sensitivity, 100%; specificity, 97.24%), HC (sensitivity, 96.07%; specificity, 98.89%) and FL (sensitivity, 96.46%; specificity, 98.80%). The best reference for AC was the Salomon curve (sensitivity, 72.25%; specificity, 99.64%).Conclusions Checking for good concordance between the study population and chosen reference data is a key initial step in quality control. Z-scores are a simple tool for evaluating the performance of each reference curve for a given population in order to optimize the sensitivity and specificity of screening for fetal growth abnormalities.

An upsurge in syphilis has been observed almost everywhere over the past decade. The mother's clinical presentation is often uninformative. The diagnosis of maternal syphilis infection is most often based on serologic tests that allow early Extencilline treatment. Syphilis ultrasound findings are non-specific, and delay before treatment can be decisive for prognosis. Fetal anemia is a physiological consequence of severe infection. We confirmed that syphilis can be suggested non-invasively by MCA-PSV measurements in a context of ascitis or atypical hydrops in the absence of usual causes. It is therefore important to perform maternal TPHA/VDRL serology if fetal anemia is suspected. In association with Extencilline treatment, intra uterine transfusion can limit consequences of infection. Reduced fetal movements and non-reactive fetal heart rate may prefigure acute perinatal complications or stillbirth.

Objective 8.4, 6.6, 1.7, 8.9 and 6.3%, respectively. The incidence of major CHD was 1. 2% (10/813)

A detailed 3D examination of the fetal face may help to guide diagnosis, particularly when the only sign detected on ultrasound is polyhydramnios, as in the case reported here.

During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung malformations is a major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome sequencing (GS) and Hi-C, we aimed at elucidating the molecular basis of bilateral isolated lung agenesis in three fetuses born to a non-consanguineous family. We detected a complex genomic rearrangement containing duplicated, triplicated and deleted fragments involving the SHH locus in fetuses presenting complete agenesis of both lungs and near-complete agenesis of the trachea, diagnosed by ultrasound screening and confirmed at autopsy following termination. The rearrangement did not include SHH itself, but several regulatory elements for lung development, such as MACS1, a major SHH lung enhancer, and the neighboring genes MNX1 and NOM1. The rearrangement incorporated parts of two topologically associating domains (TADs) including their boundaries. Hi-C of cells from one of the affected fetuses showed the formation of two novel TADs each containing SHH enhancers and the MNX1 and NOM1 genes. Hi-C together with GS indicate that the new 3D conformation is likely causative for this condition by an inappropriate activation of MNX1 included in the neo-TADs by MACS1 enhancer, further highlighting the importance of the 3D chromatin conformation in human disease.

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