Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.
OBJECTIVE
The objective of this study is to report 6-year clinical prenatal diagnosis experience of Duchenne muscular dystrophy (DMD)-affected families evaluated at a single prenatal diagnosis center in China and establish a reliable and rational prenatal diagnosis procedure for DMD families.


METHODS
The prenatal diagnosis data of 146 at-risk pregnancies in 131 DMD families referred to our center from 2010 to 2016 were retrospectively reviewed.


RESULTS
The mutation detection rate of the probands was greater than 99%. In the 131 families, 50 mothers showed negative results during carrier testing, and de novo exon deletions arose in 51.1% of the probands. Of the 146 pregnancies, 91 were male fetuses, 34 of which were affected. Germline mosaicism was identified three times in this cohort, and recombination of the DMD gene was detected in nine cases.


CONCLUSIONS
Accurate genetic diagnosis of the proband is important for preventing recurrence in at-risk families. The present results demonstrate the importance of considering maternal germline mosaicism in the genetic assessment. Prenatal diagnosis should be suggested to the parent with a DMD proband whether carrier testing found the causative mutation in the mother's blood or not. Finally, we have developed a prenatal diagnosis algorithm for dystrophinopathies that combines multiplex ligation-dependent probe amplification, quantitative PCR, sequencing and linkage analyses. © 2017 John Wiley & Sons, Ltd.
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Huanhuan
http://orcid.org/0000-0003-3709-7689
H
Wang
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Yan
Y
Xu
Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.|Department of Pediatric Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiaoqing
X
Liu
Department of Obstetrics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Lei
L
Wang
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Wenting
W
Jiang
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Bing
B
Xiao
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Wei
W
Wei
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Yingwei
Y
Chen
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Obstetrics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Weiping
W
Ye
Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
Xing
X
Ji
D000328:Adult; D002681:China; D016189:Dystrophin / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012189:Retrospective Studies
D016189:Dystrophin