Abnormal nuchal translucency: residual risk with normal cell-free DNA screening.
Autor: Grossman, Tracy B.; Bodenlos, Kimberly L.; Chasen, Stephen T.
Publication year: 2020
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
issn:1476-4954
doi: 10.1080/14767058.2019.1568405
Abstract:
Objective: To determine the proportion of genetic abnormalities that could be identified by cell-free DNA screening in pregnancies with an abnormal nuchal translucency.Methods: From 2015-2017, pregnancies with nuchal translucency ≥ 3.0 mm on ultrasounds were identified. Pregnancies with genetic testing results were included, whether or not cell-free DNA screening was performed. Comparisons of the proportion of genetic abnormalities detectable on cell-free DNA screening versus not detectable were made based on nuchal translucency values (3.0-3.4 mm; ≥3.5 mm) and maternal age (≥35 versus <35 years). Chi-square analysis, Fisher's exact test, and Mann-Whitney U were used for statistical comparison.Results: One hundred ten patients were included, 60 had genetic abnormalities (54.5%), with 44 (73.3%) detectable on cell-free DNA screening and 16 (26.7%) not. In those with nuchal translucency ≥3.5 mm, only 40 of 56 (71.4%) of abnormalities could be detected by cell-free DNA screening. Cell-free DNA screening could identify 27 of 31 abnormalities with nuchal translucency ≥3.5 mm in women ≥35 years but could identify only 13 of 25 genetic abnormalities in younger women (87.1 versus 52.0%; p = .005).Conclusion: A significant proportion of abnormalities in those with nuchal translucency ≥3.5 mm would not be detected by cell-free DNA, especially in younger women. Language: eng Rights: Pmid: 30669906 Tags: Humans; Female; Adult; Pregnancy; Ultrasonography, Prenatal; Pregnancy Trimester, First; *Nuchal Translucency Measurement; Aneuploidy; Maternal Age; *Cell-Free Nucleic Acids; diagnostic testing; Neck/diagnostic imaging; prenatal genetic screening; ultrasound screening Link: https://pubmed.ncbi.nlm.nih.gov/30669906/
