Customized and non-customized live-born birth-weight curves of single and uncomplicated pregnancies from the Burgundy perinatal network. Part I – methodology

International audience; Objectives: To establish non-customized and customized birth-weight curves of single and uncomplicated pregnancies according to gestational age.Materials and methods: We used data for 64,173 mother-infants pairs from the Burgundy perinatal network database (France) over the period 2005-2013. A validated procedure was used to link mothers with their newborns, and maternal and fetal pathologies likely to affect birth weight were excluded. Multiple regression analysis with covariate selection was used to build a customized growth curve with maternal and fetal parameters.Results: Using this methodology, three different curves were generated: an unadjusted curve for birth…

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) a…

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.

Severe X-linked chondrodysplasia punctata in nine new female fetuses

ObjectivesConradi-Hunermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. MethodsTo better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. ResultsThe mean age at diagnosis was 22weeks of gestation. The ultrasound features mainly included bon…

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

Reference Ranges and Distribution of Placental Volume by 3-Dimensional Virtual Organ Computer-Aided Analysis Between 11 Weeks and 13 Weeks 6 Days

OBJECTIVES The purpose of this study was to determine the feasibility, reproducibility, and distribution of placental volume measurements according to the crown-rump length between 11 weeks and 13 weeks 6 days. METHODS Images were acquired in 128 pregnancies followed in Burgundy during first-trimester screening sonography using an abdominal 3-dimensional transducer. The placental volume was then calculated by the virtual organ computer-aided analysis method with a rotation angle of 30° by a single operator. RESULTS Placental volumes ranged from 33.3 to 107.6 cm(3) with a mean ± SD of 62.3 ± 14.8 cm(3); the 5th and 10th percentiles were 38.0 and 44.20 cm(3), respectively, whereas the 90th an…

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes

PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non-compaction of the myocardium of the left ventricle. Exom…