The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from...

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Autores principales:	Jessica Kang, Chien-Nan Lee, Yi-Ning Su, Ming-Wei Lin, Yi-Yun Tai, Wen-Wei Hsu, Kuan-Ying Huang, Chi-Ling Chen, Chien-Hui Hung, Shin-Yu Lin
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	15q11.2 microdeletion 15q11.2 microduplication BP1–BP2 copy number variant chromosome microarray analysis (CMA) prenatal Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/42dd194fdf3c469b89233c20679cb7c2
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spelling	oai:doaj.org-article:42dd194fdf3c469b89233c20679cb7c22021-11-30T12:19:07ZThe Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients2296-858X10.3389/fmed.2021.754521https://doaj.org/article/42dd194fdf3c469b89233c20679cb7c22021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fmed.2021.754521/fullhttps://doaj.org/toc/2296-858XPrenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.Jessica KangChien-Nan LeeChien-Nan LeeYi-Ning SuMing-Wei LinYi-Yun TaiWen-Wei HsuKuan-Ying HuangChi-Ling ChenChien-Hui HungShin-Yu LinFrontiers Media S.A.article15q11.2 microdeletion15q11.2 microduplicationBP1–BP2copy number variantchromosome microarray analysis (CMA)prenatalMedicine (General)R5-920ENFrontiers in Medicine, Vol 8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	15q11.2 microdeletion 15q11.2 microduplication BP1–BP2 copy number variant chromosome microarray analysis (CMA) prenatal Medicine (General) R5-920
spellingShingle	15q11.2 microdeletion 15q11.2 microduplication BP1–BP2 copy number variant chromosome microarray analysis (CMA) prenatal Medicine (General) R5-920 Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
description	Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.
format	article
author	Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin
author_facet	Jessica Kang Chien-Nan Lee Chien-Nan Lee Yi-Ning Su Ming-Wei Lin Yi-Yun Tai Wen-Wei Hsu Kuan-Ying Huang Chi-Ling Chen Chien-Hui Hung Shin-Yu Lin
author_sort	Jessica Kang
title	The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
title_short	The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
title_full	The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
title_fullStr	The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
title_full_unstemmed	The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients
title_sort	prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patients
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/42dd194fdf3c469b89233c20679cb7c2
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The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

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