AI Article Synopsis
- A case study describes a pregnant woman who underwent chorionic villus sampling due to a high risk associated with fetal nuchal translucency.
- An intragenic deletion affecting the Duchenne muscular dystrophy (DMD) gene was detected in a male fetus, but was found only in a small percentage (23-30%) of placental cells.
- The report highlights the need for amniocentesis after identifying mosaicism in the placenta to confirm that any genetic changes are not affecting the fetus, as this instance represents only the second documented case of confined placental mosaicism involving a DMD deletion.
Article 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.
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| http://dx.doi.org/10.1038/s41431-024-01665-0 | DOI Listing |
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