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A Rare Case of Chromosome 17p13.3 Microduplication: Insights Into Its Diagnostic Journey.

Year: 2025

Type: article

Abstract: Chromosome 17p13.3 microduplication is a rare occurrence and as per literature only 40 cases have been reported so far. We report another such case and its prenatal diagnostic journey. The key learning point from this case is that non-invasive prenatal diagnostic screening (NIPS) has high sensitivity for detection of Trisomy 21, 18 and 13 alone. When multiple soft markers are present on ultrasound, invasive diagnostic testing should be preferred as other chromosomal abnormalities may be present.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.17054118

Authors: Saumya Srivastav, Maureen Prativa Tigga*

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: green

OpenAlex ID: W7079986452

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