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Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy

Claudel, N. ; Barrois, M. ; Vivanti, A. J. ; Rosenblatt, J. ; Salomon, L. J. ; Jouannic, J.‐M. ; Picone, O. ; Carbillon, L. ; Vialard, F. ; Launay, E. ; Tsatsaris, V. ; Curis, E. ; El Khattabi, L. ; Rosefort, Audrey ; Dommergues, Marc ; Valentin, Morgane ; Bouchghoul, Hanane ; François Ceccaldi, Pierre ; Sroussi, Jeremy ; Brayet, Jocelyn ; Le Dû, Nathalie

Ultrasound in obstetrics & gynecology, 2024-06, Vol.63 (6), p.807-814 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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Título:
Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy
Autor: Claudel, N. ; Barrois, M. ; Vivanti, A. J. ; Rosenblatt, J. ; Salomon, L. J. ; Jouannic, J.‐M. ; Picone, O. ; Carbillon, L. ; Vialard, F. ; Launay, E. ; Tsatsaris, V. ; Curis, E. ; El Khattabi, L. ; Rosefort, Audrey ; Dommergues, Marc ; Valentin, Morgane ; Bouchghoul, Hanane ; François Ceccaldi, Pierre ; Sroussi, Jeremy ; Brayet, Jocelyn ; Le Dû, Nathalie
Assuntos: Adult ; Blood ; Body mass index ; Body size ; Cell-Free Nucleic Acids - blood ; cell‐free DNA ; chorionicity ; Deoxyribonucleic acid ; DNA ; Down syndrome ; Down Syndrome - blood ; Down Syndrome - diagnosis ; Failure ; Female ; Fetuses ; Genetic screening ; Gestational Age ; Gynecology ; Humans ; NIPS ; NIPT VeriSeq ; Noninvasive Prenatal Testing - methods ; Noninvasive Prenatal Testing - statistics & numerical data ; non‐invasive prenatal screening ; Obstetrics ; Performance assessment ; Pregnancy ; Pregnancy, Twin - blood ; Prenatal Diagnosis - methods ; Retrospective Studies ; Strategy ; Trisomy ; trisomy 21 ; twin pregnancy ; Ultrasonic imaging ; Ultrasound
É parte de: Ultrasound in obstetrics & gynecology, 2024-06, Vol.63 (6), p.807-814
Notas: Members of APHP non‐invasive prenatal screening group are listed at end of article.
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Descrição: ABSTRACT Objectives The performance of non‐invasive prenatal screening using cell‐free DNA testing of maternal blood in twin pregnancy is underevaluated, while serum marker‐based strategies yield poor results. This study aimed to assess the performance of non‐invasive prenatal screening for trisomy 21 in twin pregnancy as a first‐tier test. Secondary objectives were to assess its failure rate and factors associated with failure. Methods This retrospective cohort study included twin pregnancies in which non‐invasive prenatal screening using cell‐free DNA was performed as the primary screening strategy between May 2017 and October 2019. We used the NIPT VeriSeq® test for in‐vitro diagnosis and set a fetal fraction cut‐off of 4% for monochorionic pregnancies and 8% for dichorionic ones. Clinical data and pregnancy outcome were collected from physicians or midwives via a questionnaire or were retrieved directly on‐site. We calculated the performance of non‐invasive cell‐free DNA screening for trisomy 21, analyzed its failure rate and assessed potentially associated factors. Results Among 1885 twin pregnancies with follow‐up, there were six (0.32%) confirmed cases of trisomy 21. The sensitivity of non‐invasive prenatal screening for trisomy 21 was 100% (95% CI, 54.1–100%) and the false‐positive rate was 0.23% (95% CI, 0.06–0.59%). The primary failure rate was 4.6%, with 4.0% being due to insufficient fetal fraction. A successful result was obtained for 65.4% of women who underwent a new blood draw, reducing the overall failure rate to 2.8%. Maternal body mass index, gestational age at screening as well as chorionicity were significantly associated with the risk of failure. Conclusion This study provides further evidence of the high performance, at an extremely low false‐positive rate, of non‐invasive prenatal screening in twins as part of a primary screening strategy for trisomy 21. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Editor: Chichester, UK: John Wiley & Sons, Ltd
Idioma: Inglês

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Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy

Chichester, UK: John Wiley & Sons, Ltd

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