Gross morphologic appearance of chorionic villi and the risk of chromosomal abnormalities
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GENETICS: ORIGINAL ARTICLE
Gross morphologic appearance of chorionic villi and the risk of chromosomal abnormalities Nasim C. Sobhani 1
&
Arianna G. Cassidy 1 & Zhongxia Qi 2 & Jingwei Yu 2 & Shilpa Chetty 1 & Mary E. Norton 2
Received: 23 June 2020 / Accepted: 20 September 2020 # Society for Reproductive Investigation 2020
Abstract Chromosomal abnormalities are associated with changes in complex aspects of chorionic villi histomorphology. This study used a simple scoring system to evaluate the association between atypical gross morphology and abnormal chromosomal testing on chorionic villus sampling (CVS). This retrospective cohort study included singleton pregnancies that underwent CVS at a single institution from 2006-2017. The degree of budding, branching, and vascularity (BBV) was scored from 0 to 3 for each CVS specimen, and individual scores were summed to calculate a composite BBV score. Scores were categorized into typical or atypical based on the cohort’s distribution. The primary predictor was atypical BBV score, and the primary outcome was chromosomal abnormality. Fisher’s exact test compared proportions, and logistic regression generated odds ratios. Among 1171 CVS specimens, 28% had chromosomal abnormalities. The chromosomally abnormal group had a higher rate of atypical BBV score than the normal group (7.3% vs 3.7%, P=0.009), a finding that remained statistically significant after controlling for maternal age, gestational age, and mode of CVS (aOR 2.2, 95% CI 1.24-3.82). Atypical chorionic villus morphology is associated with chromosomal abnormalities. This scoring system is simple, rapid, and easy to perform at the time of routine diagnosis. Keywords chorionic villus sampling . villus morphology . chromosomal abnormalities . early appearance of villi
Introduction In human development, primary chorionic villi develop as soon as two weeks after conception [1]. These finger-like projections of trophoblastic tissue extend into the maternal decidua and function to anchor the growing placenta to the uterus, remodel maternal spiral arteries, and bring the fetal circulation into contact with the maternal circulation. As
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s43032-020-00330-3) contains supplementary material, which is available to authorized users. * Nasim C. Sobhani [email protected] 1
Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA, USA
2
Department of Laboratory Medicine, University of California, San Francisco, CA, USA
pregnancy progresses, the villi accumulate a greater number of surface buds, undergo significant branching to produce a larger surface area, and develop more embryonic vessels to accommodate the increasing demands of the developing pregnancy. This budding, branching, and vascularity can be visualized on gross morphologic examination of villi and can vary widely from sample to sample. It is unclear whether variations in th
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