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Case Report: Genetic diagnosis and counseling for recurrent holoprosencephaly: a case of parental balanced translocation.
Frontiers in Genetics · · Case Reports · Open access
Ge, Zhang + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
A 31-year-old woman with recurrent miscarriages and fetal holoprosencephaly had a balanced translocation, 46,XX,t(3;13)(q27;q31), linked to fetuses carrying CNVs.
- Why it matters: Recurrent holoprosencephaly and early pregnancy loss leave couples needing a precise genetic explanation to guide future prenatal testing and reproductive decisions.
- What they did: Prenatal diagnostics in the last two pregnancies used karyotyping/CNV analysis, detecting ~12.74 Mb duplication at 3q27.2q29 and ~21.78 Mb heterozygous deletion at 13q31.3q34 in the affected fetuses.
- The result: Identifying these CNVs enabled targeted genetic counseling and reproductive guidance to reduce the likelihood of chromosomally abnormal fetuses in subsequent pregnancies.
The findingWhy it mattersWhat they didThe result
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