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Article

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

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Laboratoire CERBA, 7/11 Rue de l’Équerre, 95310 Saint-Ouen-l’Aumône, France
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Gynécologie-Obstétrique, Centre Hospitalier René Dubos, 6 av de l’Ile de France, 95300 Pontoise, France
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Gynécologie-Obstétrique, CHU Lille, 2 av Oscar Labret, 59000 Lille, France
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Hopital intercommunal de Creteil, 40 Avenue De Verdun, 94000 Creteil, France
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Medical Department, Université Paris Saclay, 63 Rue Gabriel Péri, 94270 Le Kremlin-Bicêtre, France
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Gynécologie-Obstétrique, Hôpital Bicêtre, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France
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Cytogénétique, Hopital Saint Joseph, 26 Boulevard de Louvain, 13008 Marseille, France
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Service de Médecine Foetale, Hopital Armand Trousseau, APHP Sorbonne Université hôpital Trousseau, 26 Avenue du Dr Arnold Netter, 75012 Paris, France
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Génétique médicale, CHU de Poitiers, 2 rue de la Milétrie, CEDEX, CS 90577, 86021 Poitiers, France
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Génétique Chromosomique, CHU Grenoble Alpes, Avenue Maquis du Grésivaudan, 38700 La Tronche, France
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INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Univ. Grenoble Alpes, Avenue Maquis du Grésivaudan, 38700 La Tronche, France
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Gynécologie-Obstétrique, CHU Clermont Ferrand, 1 Place Lucie et Raymond Aubrac, 63003 Clermont Ferrand, France
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Cylab, 6 Rue des sports BP 60348, CEDEX 1, 17001 La Rochelle, France
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Centre de diagnostic prénatal, Hôpital des enfants de la Timone, 264 Rue Saint-Pierre, 13005 Marseille, France
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Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, 157 Rue de la Porte de Trivaux, 92140 Clamart, France
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Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(8), 2466; https://doi.org/10.3390/jcm9082466
Received: 8 July 2020 / Revised: 25 July 2020 / Accepted: 28 July 2020 / Published: 1 August 2020
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis)
Atypical fetal chromosomal anomalies are more frequent than previously recognized and can affect fetal development. We propose a screening strategy for a genome-wide non-invasive prenatal test (NIPT) to detect these atypical chromosomal anomalies (ACAs). Two sample cohorts were tested. Assay performances were determined using Cohort A, which consisted of 192 biobanked plasma samples—42 with ACAs, and 150 without. The rate of additional invasive diagnostic procedures was determined using Cohort B, which consisted of 3097 pregnant women referred for routine NIPT. Of the 192 samples in Cohort A, there were four initial test failures and six discordant calls; overall sensitivity was 88.1% (37/42; CI 75.00–94.81) and specificity was 99.3% (145/146; CI 96.22–99.88). In Cohort B, there were 90 first-pass failures (2.9%). The rate of positive results indicating an anomaly was 1.2% (36/3007) and 0.57% (17/3007) when limited to significant unbalanced chromosomal anomalies and trisomies 8, 9, 12, 14, 15, 16, and 22. These results show that genome-wide NIPT can screen for ACAs with an acceptable sensitivity and a small increase in invasive testing, particularly for women with increased risk following maternal serum screening and by limiting screening to structural anomalies and the most clinically meaningful trisomies. View Full-Text
Keywords: non-invasive prenatal test; genome-wide screening strategy; atypical chromosomal anomalies; rare autosomal aneuploidy; structural unbalanced anomalies; deletion; duplication; sensitivity; specificity; positive predictive value; VeriSeq NIPT Solution v2 non-invasive prenatal test; genome-wide screening strategy; atypical chromosomal anomalies; rare autosomal aneuploidy; structural unbalanced anomalies; deletion; duplication; sensitivity; specificity; positive predictive value; VeriSeq NIPT Solution v2
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MDPI and ACS Style

Kleinfinger, P.; Lohmann, L.; Luscan, A.; Trost, D.; Bidat, L.; Debarge, V.; Castaigne, V.; Senat, M.-V.; Brechard, M.-P.; Guilbaud, L.; Le Guyader, G.; Satre, V.; Laurichesse Delmas, H.; Lallaoui, H.; Manca-Pellissier, M.-C.; Boughalem, A.; Valduga, M.; Hodeib, F.; Benachi, A.; Costa, J.M. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J. Clin. Med. 2020, 9, 2466. https://doi.org/10.3390/jcm9082466

AMA Style

Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V, Castaigne V, Senat M-V, Brechard M-P, Guilbaud L, Le Guyader G, Satre V, Laurichesse Delmas H, Lallaoui H, Manca-Pellissier M-C, Boughalem A, Valduga M, Hodeib F, Benachi A, Costa JM. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. Journal of Clinical Medicine. 2020; 9(8):2466. https://doi.org/10.3390/jcm9082466

Chicago/Turabian Style

Kleinfinger, Pascale, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Véronique Debarge, Vanina Castaigne, Marie-Victoire Senat, Marie-Pierre Brechard, Lucie Guilbaud, Gwenaël Le Guyader, Véronique Satre, Hélène Laurichesse Delmas, Hakima Lallaoui, Marie-Christine Manca-Pellissier, Aicha Boughalem, Mylene Valduga, Farah Hodeib, Alexandra Benachi, and Jean M. Costa. 2020. "Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies" Journal of Clinical Medicine 9, no. 8: 2466. https://doi.org/10.3390/jcm9082466

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