Open AccessNuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
Author(s) -
Petersen Olav B.,
Smith Eric,
Van Opstal Diane,
Polak Marike,
Knapen Maarten F. C. M.,
Diderich Karin E. M.,
Bilardo Caterina M.,
Arends Lidia R.,
Vogel Ida,
Srebniak Malgorzata I.
Publication year - 2020
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.1111/aogs.13877
Subject(s) - medicine , trisomy , obstetrics , gynecology , fetus , microarray , retrospective cohort study , pregnancy , pathology , genetics , biology , gene , gene expression
Abstract Introduction Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0‐3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non‐invasive prenatal test (NIPT) results. Material and methods A retrospective study and meta‐analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. Results A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta‐analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%‐21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%‐7.3%]). However, it may be substantially lowered if a genome‐wide 10‐Mb resolution NIPT test was offered (~1:464). Conclusions Based on these data, we suggest that the NT cut‐off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome‐wide >10‐Mb resolution NIPT test, which detects most aberrations, could be proposed.