Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature

Key Points

• The goal is to illustrate the utility of cfDNA screening in identifying specific genetic deletions in fetuses.
• Conducted cfDNA screening to detect subchromosomal microdeletions in a fetus with prenatal abnormalities.
• Verified findings through chromosomal microarray analysis (CMA) and karyotyping.
• Provided integrated genetic counseling to support parental decision-making.
• Identified a deletion at 5q14.3q15 associated with Bosch-Boonstra-Schaaf optic atrophy syndrome.
• Demonstrated cfDNA as an effective tool for early detection of genetic conditions even without structural malformations.
• Highlighting the necessity of genetic counseling in interpreting results and making informed decisions.

Abstract