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

Autor: Claudel N; Maternité Port Royal, AP-HP Hôpital Cochin, FHU Prema, Paris, France.; Université Paris Cité, Paris, France.; INSERM UMR_S1139, Paris, France., Barrois M; Maternité Port Royal, AP-HP Hôpital Cochin, FHU Prema, Paris, France.; Université Paris Cité, Paris, France.; INSERM UMR_S1139, Paris, France., Vivanti AJ; Service de Gynécologie-Obstétrique, DMU Santé des Femmes et des Nouveau-nés, AP-HP Hôpital Antoine Béclère, Clamart, France.; Université Paris-Saclay, Orsay, France., Rosenblatt J; Service de Gynécologie-Obstétrique, AP-HP Hôpital Universitaire Robert-Debré, Paris, France., Salomon LJ; Université Paris Cité, Paris, France.; Service de Gynécologie-Obstétrique, AP-HP Hôpital Universitaire Necker-Enfants Malades, Paris, France., Jouannic JM; Département de Médecine Fœtale, Pôle ORIGYNE.6, AP-HP Hôpital Armand Trousseau, Paris, France.; Université Sorbonne Paris Cité, Paris, France., Picone O; Service de Gynécologie-Obstétrique, AP-HP Hôpital Louis Mourier, Colombes, France.; Université Paris Diderot, INSERM UMR1137, IAME, Paris, France., Carbillon L; Service de Gynécologie-Obstétrique, AP-HP Hôpital Jean-Verdier, Bondy, France.; Université Paris 13, Bobigny, France., Vialard F; Service de Cytogénétique, CHI Poissy-Saint Germain en Laye, Poissy, France., Launay E; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France., Tsatsaris V; UR 7537 BioSTM, UFR de Pharmacie, Faculté de Santé, Université Paris Cité, Paris, France., Curis E; UR 7537 BioSTM, UFR de Pharmacie, Faculté de Santé, Université Paris Cité, Paris, France.; Laboratoire d'Hématologie, Hôpital Lariboisière, AP-HP.nord, Paris, France., El Khattabi L; Plateforme de Dépistage Prénatal Non Invasif par Analyse de l'ADN Libre Circulant, AP-HP, Hôpital Cochin and Université Paris Cité, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute (ICM), Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Unité de Génomique Chromosomique, Département de Génétique Médicale, APHP, Hôpitaux Armand Trousseau et Pitié-Salpêtrière, Paris Brain Institute - ICM, Sorbonne Université, Paris, France.
Jazyk: angličtina
Zdroj: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Jun; Vol. 63 (6), pp. 807-814. Date of Electronic Publication: 2024 Apr 30.
DOI: 10.1002/uog.26311
Abstrakt: 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.
(© 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.)
Databáze: MEDLINE
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