Chromosomal abnormalities diagnosed at the chromosomal microarray in pregnancies with isolated high risk of trisomy 21
In a population of women with a high risk of trisomy 21 but without nuchal translucency greater than the 99th percentile or ultrasound signs at the first trimester, the rate of chromosomal abnormalities is 24%. Although these abnormalities are heterogeneous, the majority are aneuploidy; with only large CNVs of 13.9 Mb having a poor neurodevelopmental prognosis.
Authors
- Matthieu Dap (ORCID: https://orcid.org/0000-0002-2846-1509)
- Raphaël Bartin (ORCID: https://orcid.org/0000-0001-8675-0846)
- J. Stirnemann (ORCID: https://orcid.org/0000-0002-6207-2128)
- Y. Ville
- Valérie Malan
- Jean-Michel Dupont
- Helyett Ollivier
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Hôpital Cochin (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
Publication Details
- Journal
- Journal of Gynecology Obstetrics and Human Reproduction
- Published
- 2026-01-14
- DOI
- https://doi.org/10.1016/j.jogoh.2026.103112
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00