Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families

Abstract. Objective:. This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis. Methods:. In this retrospective co...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Mengmeng Li, Na Hao, Fengxia Yao, Weimin Zhang, Jing Zhou, Li Tan, Zhengqing Qiu, Juntao Liu, Yang Pan
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Health 2021
Materias:	Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/fce9ddc1b68c41098cecfd98a654fd69
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:fce9ddc1b68c41098cecfd98a654fd69
record_format	dspace
spelling	oai:doaj.org-article:fce9ddc1b68c41098cecfd98a654fd692021-11-25T07:59:21ZPrenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families2641-589510.1097/FM9.0000000000000089https://doaj.org/article/fce9ddc1b68c41098cecfd98a654fd692021-10-01T00:00:00Zhttp://journals.lww.com/10.1097/FM9.0000000000000089https://doaj.org/toc/2641-5895Abstract. Objective:. This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis. Methods:. In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype. Results:. The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism. Conclusion:. This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.Mengmeng LiNa HaoFengxia YaoWeimin ZhangJing ZhouLi TanZhengqing QiuJuntao LiuYang PanWolters Kluwer HealtharticleGynecology and obstetricsRG1-991ENMaternal-Fetal Medicine, Vol 3, Iss 4, Pp 246-254 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Gynecology and obstetrics RG1-991
spellingShingle	Gynecology and obstetrics RG1-991 Mengmeng Li Na Hao Fengxia Yao Weimin Zhang Jing Zhou Li Tan Zhengqing Qiu Juntao Liu Yang Pan Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
description	Abstract. Objective:. This study was to supply information of the Duchenne muscular dystrophy (DMD) mutational spectrum in 303 Chinese families and further offer 5-year clinical experience of DMD/Becker muscular dystrophy genetic counseling and prenatal diagnosis. Methods:. In this retrospective cohort study, three hundred and five pregnancies in 303 pregnant women who has a birth history of DMD/Becker muscular dystrophy patients underwent prenatal diagnosis using multiplex ligation-dependent probe amplification followed by Sanger sequencing between January 2014 and December 2018 at Peking Union Medical College Hospital. The mean age of pregnant women was (33.0 ± 4.1) years old. Karyotype analysis was performed to exclude fetal abnormal karyotype. Results:. The detection rate of DMD gene mutation in 303 probands was (296/303) 97.7% with seven families having a negative genetic diagnosis. The mutational spectrum comprised of large arrangements in 288/303 (95.0%) and small mutations in 8/303 (2.6%). Carrier testing was performed among 204 pregnant women among whom, 108 mothers had the same mutation as family proband. Of the 305 pregnancies underwent prenatal diagnosis, 55 of 173 male fetuses were affected. We also performed karyotype analysis and found three abnormal karyotypes of trisomy 21. We even found a fetus with DMD gene mutation and trisomy 21 in a same fetus by further analysis. We also identified two times of germline mosaicism. Conclusion:. This study demonstrated the distribution and mutation profile of 303 probands and 305 fetuses. Furthermore, considering the possbility of maternl germilne mosaicism, prenatal diagnosis should be suggested to mothers with a proband whether they carry the causative mutation in their blood or not.
format	article
author	Mengmeng Li Na Hao Fengxia Yao Weimin Zhang Jing Zhou Li Tan Zhengqing Qiu Juntao Liu Yang Pan
author_facet	Mengmeng Li Na Hao Fengxia Yao Weimin Zhang Jing Zhou Li Tan Zhengqing Qiu Juntao Liu Yang Pan
author_sort	Mengmeng Li
title	Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
title_short	Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
title_full	Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
title_fullStr	Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
title_full_unstemmed	Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
title_sort	prenatal diagnosis of dystrophinopathy and cytogenetic analysis in 303 chinese families
publisher	Wolters Kluwer Health
publishDate	2021
url	https://doaj.org/article/fce9ddc1b68c41098cecfd98a654fd69
work_keys_str_mv	AT mengmengli prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT nahao prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT fengxiayao prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT weiminzhang prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT jingzhou prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT litan prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT zhengqingqiu prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT juntaoliu prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies AT yangpan prenataldiagnosisofdystrophinopathyandcytogeneticanalysisin303chinesefamilies
_version_	1718413597207429120

Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families

Ejemplares similares