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Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study

Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides mo...

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Autores principales: Huang, Ruibin, Yang, Xin, Zhou, Hang, Fu, Fang, Cheng, Ken, Wang, You, Ma, Chunling, Li, Ru, Jing, Xiangyi, Han, Jin, Zhen, Li, Pan, Min, Li, Dongzhi, Liao, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498837/
https://www.ncbi.nlm.nih.gov/pubmed/36140741
http://dx.doi.org/10.3390/genes13091573
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author Huang, Ruibin
Yang, Xin
Zhou, Hang
Fu, Fang
Cheng, Ken
Wang, You
Ma, Chunling
Li, Ru
Jing, Xiangyi
Han, Jin
Zhen, Li
Pan, Min
Li, Dongzhi
Liao, Can
author_facet Huang, Ruibin
Yang, Xin
Zhou, Hang
Fu, Fang
Cheng, Ken
Wang, You
Ma, Chunling
Li, Ru
Jing, Xiangyi
Han, Jin
Zhen, Li
Pan, Min
Li, Dongzhi
Liao, Can
author_sort Huang, Ruibin
collection PubMed
description Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10/37, 27.0% vs. 6/111, 5.4%, P < 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE.
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spelling pubmed-94988372022-09-23 Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study Huang, Ruibin Yang, Xin Zhou, Hang Fu, Fang Cheng, Ken Wang, You Ma, Chunling Li, Ru Jing, Xiangyi Han, Jin Zhen, Li Pan, Min Li, Dongzhi Liao, Can Genes (Basel) Article Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10/37, 27.0% vs. 6/111, 5.4%, P < 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE. MDPI 2022-09-01 /pmc/articles/PMC9498837/ /pubmed/36140741 http://dx.doi.org/10.3390/genes13091573 Text en © 2022 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
Huang, Ruibin
Yang, Xin
Zhou, Hang
Fu, Fang
Cheng, Ken
Wang, You
Ma, Chunling
Li, Ru
Jing, Xiangyi
Han, Jin
Zhen, Li
Pan, Min
Li, Dongzhi
Liao, Can
Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title_full Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title_fullStr Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title_full_unstemmed Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title_short Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study
title_sort prenatal diagnosis of talipes equinovarus by ultrasound and chromosomal microarray analysis: a chinese single-center retrospective study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498837/
https://www.ncbi.nlm.nih.gov/pubmed/36140741
http://dx.doi.org/10.3390/genes13091573
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