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Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

The copy number variation (CNV) of 15q11.2, an emerging and common condition observed during prenatal counseling, is encompassed by four highly conserved and non-imprinted genes—TUBGCP5, CYFIP1, NIPA1, and NIPA2—which are reportedly related to developmental delays or general behavioral problems. We...

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Autores principales: Chu, Fu-Chieh, Shaw, Steven W., Lee, Chien-Hong, Lo, Liang-Ming, Hsu, Jenn-Jeih, Hung, Tai-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535766/
https://www.ncbi.nlm.nih.gov/pubmed/34680874
http://dx.doi.org/10.3390/genes12101480
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author Chu, Fu-Chieh
Shaw, Steven W.
Lee, Chien-Hong
Lo, Liang-Ming
Hsu, Jenn-Jeih
Hung, Tai-Ho
author_facet Chu, Fu-Chieh
Shaw, Steven W.
Lee, Chien-Hong
Lo, Liang-Ming
Hsu, Jenn-Jeih
Hung, Tai-Ho
author_sort Chu, Fu-Chieh
collection PubMed
description The copy number variation (CNV) of 15q11.2, an emerging and common condition observed during prenatal counseling, is encompassed by four highly conserved and non-imprinted genes—TUBGCP5, CYFIP1, NIPA1, and NIPA2—which are reportedly related to developmental delays or general behavioral problems. We retrospectively analyzed 1337 samples from genetic amniocentesis for fetal CNV using microarray-based comparative genomic hybridization analysis between January 2014 and December 2019. 15q11.2 CNV showed a prevalence of 1.5% (21/1337). Separately, 0.7% was noted for 15q11.2 BP1–BP2 microdeletion and 0.8% for 15q11.2 microduplication. Compared to the normal array group, the 15q11.2 BP1–BP2 microdeletion group had more cases of neonatal intensive care unit transfer, an Apgar score of <7 at 1 min, and neonatal death. Additionally, the group was symptomatic with developmental delays and had more infantile deaths related to congenital heart disease (CHD). Our study makes a novel contribution to the literature by exploring the differences in the adverse perinatal outcomes and early life conditions between the 15q11.2 CNV and normal array groups. Parent-origin gender-based differences may help in the prognosis of the fetal phenotype; development levels should be followed up in the long term and echocardiography should be offered prenatally and postnatally for the prevention of a delayed diagnosis of CHD.
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spelling pubmed-85357662021-10-23 Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis Chu, Fu-Chieh Shaw, Steven W. Lee, Chien-Hong Lo, Liang-Ming Hsu, Jenn-Jeih Hung, Tai-Ho Genes (Basel) Article The copy number variation (CNV) of 15q11.2, an emerging and common condition observed during prenatal counseling, is encompassed by four highly conserved and non-imprinted genes—TUBGCP5, CYFIP1, NIPA1, and NIPA2—which are reportedly related to developmental delays or general behavioral problems. We retrospectively analyzed 1337 samples from genetic amniocentesis for fetal CNV using microarray-based comparative genomic hybridization analysis between January 2014 and December 2019. 15q11.2 CNV showed a prevalence of 1.5% (21/1337). Separately, 0.7% was noted for 15q11.2 BP1–BP2 microdeletion and 0.8% for 15q11.2 microduplication. Compared to the normal array group, the 15q11.2 BP1–BP2 microdeletion group had more cases of neonatal intensive care unit transfer, an Apgar score of <7 at 1 min, and neonatal death. Additionally, the group was symptomatic with developmental delays and had more infantile deaths related to congenital heart disease (CHD). Our study makes a novel contribution to the literature by exploring the differences in the adverse perinatal outcomes and early life conditions between the 15q11.2 CNV and normal array groups. Parent-origin gender-based differences may help in the prognosis of the fetal phenotype; development levels should be followed up in the long term and echocardiography should be offered prenatally and postnatally for the prevention of a delayed diagnosis of CHD. MDPI 2021-09-23 /pmc/articles/PMC8535766/ /pubmed/34680874 http://dx.doi.org/10.3390/genes12101480 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Chu, Fu-Chieh
Shaw, Steven W.
Lee, Chien-Hong
Lo, Liang-Ming
Hsu, Jenn-Jeih
Hung, Tai-Ho
Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title_full Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title_fullStr Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title_full_unstemmed Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title_short Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis
title_sort adverse perinatal and early life outcomes following 15q11.2 cnv diagnosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535766/
https://www.ncbi.nlm.nih.gov/pubmed/34680874
http://dx.doi.org/10.3390/genes12101480
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