Post-mortem imaging combined with systematic organ biopsies is highly acceptable among all parents independent of their religion and the method used for organ biopsy.

Human papillomavirus (HPV) is an epitheliotropic virus typically infecting keratinocytes but also possibly epithelial trophoblastic placental cells. In the present study, we set out to investigate whether HPV can be recovered from transabdominally obtained placental cells to avoid any confounding contamination by HPV-infected cervical cells. Thirty-five placental samples from women undergoing transabdominal chorionic villous sampling were analyzed, and we detected HPV-16 and HPV-62 in 2 placentas. This study suggests that HPV infection of the placenta can occur early in pregnancy. The overall clinical implication of these results remains to be elucidated.

Objective: To evaluate the Fetal Medicine Foundation (FMF) algorithm prospectively at 11-13 weeks' gestation in the prediction of preeclampsia (PE). Methods: Single-center prospective screening study for PE of singleton pregnancies at 11-13 weeks. The FMF algorithm takes into account maternal characteristics and biomarkers. Detection rate (DR) for a 10% false-positive rate (FPR) for delivery with preterm and term PE was estimated. Results: Between January 2011 and December 2013, of 3,239 patients available for final analysis, 36 (1.1%) subsequently developed preterm and 44 (1.4%) term PE. In combined screening by maternal factors, mean arterial pressure, uterine artery pulsatility index, and serum placental growth factor, the DR was 80.6% (95% CI 64.0-91.8) for PE at <37 weeks and 31.8% (95% CI 18.6-47.6) for PE at ≥37 weeks, at a 10% FPR. Conclusion: Our data suggest that the FMF algorithm provides effective first-trimester screening for preterm PE.

We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy. Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes. Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants.

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