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Hidden in Plain Sight: A Rare 7q Deletion Masquerading as a Common Aneuploidy on Prenatal Ultrasound

Year: 2025

Type: article

Abstract: Prenatal diagnosis of rare chromosomal microdeletions is challenging when fetal abnormalities mimic common aneuploidies. Traditional karyotyping may miss submicroscopic aberrations detectable by chromosomal microarray analysis (CMA). We report a case of 7q31.1-q32.3 microdeletion syndrome identified through CMA, highlighting its diagnostic value. A 28-year-old primigravida at 29 weeks presented with polyhydramnios, fetal growth restriction, short nasal bone, and cardiac abnormalities suggestive of trisomy. CMA revealed a 21.58-megabase deletion at 7q31.1-q32.3. She delivered at 37 weeks by cesarean section. The neonate developed respiratory distress requiring intensive care and was found to have an atrial septal defect, patent ductus arteriosus, pulmonary artery stenosis, ventriculomegaly, and feeding difficulties. This case demonstrates that prenatal ultrasound features suggestive of common aneuploidies may instead arise from other, less common genetic abnormalities. CMA offers superior diagnostic precision and should be considered in atypical prenatal presentations resembling aneuploidy.

Source: Cureus

DOI: 10.7759/cureus.98598

Authors: Zainab Hananah Abang Abdullah, Mumtazah Mohd Alauddin, Suziela Mohamad, Aisha Fadhilah Abang Abdullah, Amilia Afzan Mohd Jamil

Institution: Universiti Putra Malaysia

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7109604063