Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2026 Jan;34(1):161-164.
doi: 10.1038/s41431-024-01665-0. Epub 2024 Jul 16.

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report

Quentin Sabbagh  1 , Marion Larrieux  2 , Anouck Schneider  3 , Corinne Theze  2 , Marie-Claire Vincent  2   4 , Christine Coubes  5 , Jacques Puechberty  3 , Sarah Renard  6 , Michel Koenig  2   4 , Franck Pellestor  3 , Mireille Cossée #  2   4 , Vincent Gatinois #  3
Affiliations
Case Reports

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report

Quentin Sabbagh et al. Eur J Hum Genet. 2026 Jan.

Abstract

Single-gene copy number variants (CNVs) limited to placenta although rarely identified may have clinical implications. We describe a pregnant woman referred for chorionic villus sampling due to increased fetal nuchal translucency. Incident intragenic deletion of Duchenne muscular dystrophy (DMD) gene, affecting exons 56 and 57, was identified in a male fetus in ~23-30% of placental cells by chromosomal microarray and confirmed using multiplex ligation-dependent probe amplification (MLPA). Rapid aneuploidy testing showed normal results and the deletion was not detected in the mother. Subsequent analyses on amniotic cells yielded a normal DMD gene result, corroborating the confined placental nature of the mosaicism. Hence, this report emphasizes the importance of conducting amniocentesis following detection of mosaicism for single gene CNVs on chorionic villi, in order to preclude confined placental mosaicism (CPM). As far as we know, this report marks only the second documented situation of CPM involving an intragenic DMD deletion.

PubMed Disclaimer

Conflict of interest statement

Competing interests: The authors declare no competing interests. Ethical approval: Fetal ultrasounds, invasive prenatal testing and genetic analyses were performed in routine care. Oral consent for participation in the study was obtained from the couple.

References

    1. Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn. 2015;35:1117–27. - DOI - PubMed
    1. Grati FR, Malvestiti F, Branca L, Agrati C, Maggi F, Simoni G. Chromosomal mosaicism in the fetoplacental unit. Best Pract Res Clin Obstet Gynaecol. 2017;42:39–52. - DOI - PubMed
    1. Reilly K, Doyle S, Hamilton SJ, Kilby MD, Mone F. Pitfalls of prenatal diagnosis associated with mosaicism. Obstet Gynaecol. 2023;25:28–37. - DOI
    1. Carey L, Scott F, Murphy K, Mansfield N, Barahona P, Leigh D, et al. Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test. Prenat Diagn. 2014;34:478–86. - DOI - PubMed
    1. Lund ICB, Becher N, Christensen R, Petersen OB, Steffensen EH, Vestergaard EM, et al. Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. Prenat Diagn. 2020;40:244–59. - DOI - PubMed

Publication types