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Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  1. "It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Olav Bjørn Petersen
  • Eric Smith
  • Diane Van OpstaL
  • Marike Polak
  • Maarten F C M Knapen
  • Karin E M Diderich
  • Caterina Maddalena Bilardo
  • Lidia R Arends
  • Ida Vogel
  • Malgorzata Ilona Srebniak
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftActa Obstetricia et Gynecologica Scandinavica
Vol/bind99
Udgave nummer6
Sider (fra-til)765-774
Antal sider10
ISSN0001-6349
DOI
StatusUdgivet - jun. 2020

ID: 59698113