Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.

Autor: Zakaria H; Division of Obstetrics and Gynecology, 'Antoine Béclère' Hospital, Paris Saclay University, APHP, Clamart, France., Kleinfinger P; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Lohmann L; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Costa JM; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Tsatsaris V; Division of Obstetrics and Gynecology, 'Port Royal' Hospital, Paris Cité University, APHP, Paris, France., Salomon LJ; Division of Obstetrics and Gynecology, 'Necker-Enfants Malades' Hospital, Paris Cité University, APHP, Paris, France., Jouannic JM; Division of Fetal Medicine, 'Armand Trousseau' Hospital, Sorbonne Paris Nord University, APHP, Paris, France., Rosenblatt J; Division of Obstetrics and Gynecology, 'Robert Debré' Hospital, Sorbonne Paris Nord University, APHP, Paris, France., Demain A; Division of Obstetrics and Gynecology, 'Antoine Béclère' Hospital, Paris Saclay University, APHP, Clamart, France., Benachi A; Division of Obstetrics and Gynecology, 'Antoine Béclère' Hospital, Paris Saclay University, APHP, Clamart, France., El Khattabi L; Non-Invasive Prenatal Screening laboratory, APHP, Paris Cité University, Hôpital Cochin, Paris, France.; Chromosomal Genomics Unit, Medical Genetics Department, APHP, Sorbonne Paris Nord University, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France., Vivanti AJ; Division of Obstetrics and Gynecology, 'Antoine Béclère' Hospital, Paris Saclay University, APHP, Clamart, France.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 May; Vol. 44 (5), pp. 555-561. Date of Electronic Publication: 2024 Mar 06.
DOI: 10.1002/pd.6548
Abstrakt: Objective: In singleton pregnancies, the use of cell-free DNA (cfDNA) analysis as a screening test for common fetal trisomies has spread worldwide though we still lack sufficient data for its use in triplet pregnancies. The objective of this study is to assess the performance of cfDNA testing in detecting fetal aneuploidies in triplet pregnancies as a first-tier test.
Method: We performed a retrospective cohort study including data from pregnant women with a triplet pregnancy who underwent cfDNA testing between May 1, 2017, and January 15, 2020. cfDNA was obtained by massive parallel sequencing (VeriSeq NIPT solution; Illumina®). The objectives of the study were to assess the diagnostic performance of cfDNA testing for trisomy 21 (T21) (primary outcome), trisomy 18 (T18) and 13 (secondary outcomes).
Results: During the study period, cfDNA testing was performed in 255 women with triplet pregnancy, of which 165 (64.7%) had a neonatal outcome available. Three tests were positive for T21, one of which was confirmed by an antenatal karyotype, and the other was confirmed at birth. The third case did not undergo an invasive procedure and was not confirmed at birth (false positive). In one case, cfDNA testing was positive for T18 and was confirmed by an antenatal karyotype. There were no cases of trisomy 13 in the cohort. The no-call rate was 2.4% at first sampling. Fifty-eight (22.7%) women had embryo reduction, which in 40 (69%) of whom was performed after the cfDNA test result.
Conclusion: cfDNA testing could be offered as primary screening for main fetal aneuploidies in triplet pregnancies after provision of appropriate patient information.
(© 2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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