Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome

Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome

Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader–Will...

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Bibliographic Details
Main Authors: Da Kyung Hong, Ji Eun Park, Kyung Min Kang, Sung Han Shim, So Hyun Shim, You Jung Han, Hee Young Cho, Dong Hyun Cha
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Diagnostics
Subjects:
noninvasive prenatal test
uniparental disomy
Prader–Willi syndrome
methylation analysis
rare autosomal trisomy
amniocentesis
Online Access:https://www.mdpi.com/2075-4418/13/4/580

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https://www.mdpi.com/2075-4418/13/4/580

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