In high-risk singleton gestations a cervical length of < or = 2.5 cm was equal to other sonographic cervical parameters in its ability to predict spontaneous preterm birth and was better for the prediction of earlier forms of prematurity (at < 28 and < 30 weeks) than later forms (at < 32 and < 34 weeks). The optimal cervical lengths and their performance for predicting prematurity may be influenced by obstetric risk factors.

Analysis of POC specimens by karyotyping fails in 20-40% of cases. SNP-based CMA is a robust platform, with successful results obtained in >90% of cases. SNP-based CMA can identify aneuploidy, polyploidy, whole-genome homozygosity, segmental genomic imbalances, and maternal cell contamination, thus maximizing sensitivity and decreasing false-negative results. Understanding the etiology of fetal loss enables clarification of recurrence risk and assists in determining appropriate management for future family planning.Genet Med 19 1, 83-89.

Routine ultrasound screening for vasa previa using American Institute of Ultrasound in Medicine criteria will almost universally lead to good outcomes and prevent perinatal mortality.

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In this population of growth-restricted fetuses delivered by elective cesarean, the computer indices of duration of episodes of low variation and short-term and long-term variation were significantly associated with umbilical artery pH and predicted umbilical artery acidemia at birth.

(Abstracted from Genet Med 2017;19(1):83–89) High-resolution chromosomal microarray analysis (CMA) with single-nucleotide polymorphism (SNP)–based arrays is increasingly used for pediatric and prenatal diagnoses as they can simultaneously detect aneuploidies, submicroscopic chromosomal imbalances, triploidy, and regions of allelic homozygosity. Overall, 15% to 20% of clinically recognized pregnancies end in miscarriage, and approximately 1% of couples experience recurrent (at least 2) pregnancy losses.

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