title: Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
abstract: OBJECTIVE
  This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family.
  
  
  METHODS
  The method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing with noninvasive prenatal testing.
  
  
  RESULTS
  By applying this new strategy, we successfully revealed novel mutations in the gene BCKDHA (Ex2_4dup and c.392A>G) in this Chinese family and developed a prenatal haplotype-assisted approach to noninvasively detect the genotype of the fetus (transmitted from both parents).
  
  
  CONCLUSIONS
  This is the first report of integration of targeted sequencing and noninvasive prenatal testing into clinical practice. Our study has demonstrated that this massively parallel sequencing-based strategy can potentially be used for single-gene disorder diagnosis in the future.
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Yanqin
authors.initials: Y
authors.lastname: You
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Sun
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Key Laboratory of Cooperation Project in Guangdong Province, Guangdong, China.
authors.forename: Xuchao
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Yali
authors.initials: Y
authors.lastname: Li
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Wei
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Key Laboratory of Cooperation Project in Guangdong Province, Guangdong, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Chen
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Key Laboratory of Cooperation Project in Guangdong Province, Guangdong, China.
authors.forename: Huijuan
authors.initials: H
authors.lastname: Ge
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Zhangzhang
authors.initials: Z
authors.lastname: Lan
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: China Clinical Lab of Beijing, BGI-Health, Beijing, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Tang
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Shujuan
authors.initials: S
authors.lastname: Wang
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [4] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China.
authors.forename: Ya
authors.initials: Y
authors.lastname: Gao
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [4] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China.
authors.forename: Fuman
authors.initials: F
authors.lastname: Jiang
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Jiaping
authors.initials: J
authors.lastname: Song
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China.
authors.forename: Quan
authors.initials: Q
authors.lastname: Shi
authors.affiliation: China Clinical Lab of Beijing, BGI-Health, Beijing, China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Zhu
authors.affiliation: China Clinical Lab of Beijing, BGI-Health, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Mu
authors.affiliation: China Clinical Lab of Beijing, BGI-Health, Beijing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Dong
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Research and Development, BGI-Health, Shenzhen, China.
authors.forename: Vince
authors.initials: V
authors.lastname: Gao
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] China Clinical Lab of Shenzhen, BGI-Health, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China [4] Guangdong Provincial Key Laboratory of Human Diseases Genome, Guangdong, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Jiang
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, Shenzhen, China [3] Shenzhen Municipal Key Laboratory of Genome Science, Shenzhen, China [4] Guangdong Provincial Key Laboratory of Human Diseases Genome, Guangdong, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Gao
mesh_terms: D000597:Amino Acids, Branched-Chain / Q000737:chemistry / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000235:genetics; D020125:Mutation, Missense; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA
chemical_list: D000597:Amino Acids, Branched-Chain