Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
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 invasiv... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Reihe/Periodikum: | Petersen , O B , Smith , E , Van Opstal , D , Polak , M , Knapen , M F C M , Diderich , K E M , Bilardo , C M , Arends , L R , Vogel , I & Srebniak , M 2020 , ' Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 99 , no. 6 , pp. 765-774 . https://doi.org/10.1111/aogs.13877 |
Schlagwörter: | microarray / microdeletion / non-invasive prenatal test / nuchal translucency / prenatal diagnosis / submicroscopic chromosomal abnormalities / CHROMOSOMAL MICROARRAY / SINGLETON PREGNANCIES / DUTCH LABORATORIES / NORMAL KARYOTYPE / 1ST TRIMESTER / THICKNESS / ARRAY / RISK / ANEUPLOIDY / STATEMENT |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26671443 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/11370/9fa784cc-b427-4640-b218-391ad154e118 |
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 (similar to 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 ...