Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

Balanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1 in 500 newborns and are associated with an increased risk of multiple congenital anomalies and/or neurode...

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Main Authors: Mullin Ho Chung Yu, Jeffrey Fong Ting Chau, Sandy Leung Kuen Au, Hei Man Lo, Kit San Yeung, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Claudia Ching Yan Chung, Kelvin Yuen Kwong Chan, Brian Hon Yin Chung, Anita Sik Yau Kan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-01-01
Series:Frontiers in Genetics
Subjects:
balanced chromosomal abnormalities
prenatal diagnosis
genome sequencing
long read sequencing
karyotype
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.620162/full

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