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Updated: Nov 27, 2025
Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0
Lena Sagi-Dain1, Amihood Singer, Shay Ben Shachar
1Genetics Institute, Carmel Medical Center, affiliated with the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Community Genetics, Public Health Services, Ministry of Health, Jerusalem, the Research Institute, Clalit Health Maintenance Organization, Tel Aviv, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Genetics Institute, Kaplan Medical Center, Rehovot, Genetics Institute, Assaf Harofeh Medical Center, Zerifin, the Danek Gertner Institute of Human Genetics and the Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, and the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.
Objective:
To examine the risk of clinically significant chromosomal microarray analysis findings in fetuses with nuchal translucency from 3.0-3.4 mm. In addition, we aimed to define the yield of noninvasive prenatal testing (NIPT) in such pregnancies.
Methods:
This retrospective cohort study included results of all chromosomal microarray analysis tests performed owing to a nuchal translucency measurement from 3.0-3.4 mm, without ultrasonographic anomalies, retrieved from the Israeli Ministry of Health computerized database. Rates of clinically significant (pathogenic and likely pathogenic) microarray findings were compared with a previously published local control population, encompassing 2,752 fetuses with normal ultrasound findings and nuchal translucency less than 3.0 mm.
Results:
Overall, 619 chromosomal microarray analyses were performed owing to isolated nuchal translucency from 3.0-3.4 mm. Of these, 29 (4.7%) cases had clinically significant copy number variants, a significantly higher risk compared with control-group pregnancies (relative risk 3.3, 95% CI 2.6-7.2). Divided by tenths of millimeters, the risk for abnormal chromosomal microarray analysis findings remained significantly increased, except for the subgroup of 198 fetuses with nuchal translucency measurements of 3.0 mm. Noninvasive prenatal testing for the five common chromosome aneuploidies would have missed 41.4% of the abnormal copy number variants-1.9% of overall cases, or 1 in 52 fetuses with nuchal translucency from 3-3.4 mm. Genome-wide NIPT, as well as traditional karyotyping, could have missed an abnormal finding in 9 of 619 (1.5%), or 1 in 69 fetuses.
Conclusion:
Our outcomes show that the rate of abnormal chromosomal microarray analysis findings in fetuses with nuchal translucency from 3.1-3.4 mm is significantly higher compared with fetuses with normal ultrasound findings.
