title: Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.
abstract: BACKGROUND
  Congenital heart defects (CHD) represent one of the most common birth defects. This study aimed to evaluate the value of multiplex ligation-dependent probe amplification (MLPA) as a tool to detect the copy number variations (CNVs) of 22q11 in fetuses with CHD.
  
  
  RESULTS
  A large cohort of 225 fetuses with CHD was screened by fetal echocardiography. Once common chromosome abnormalities in 30 fetuses were screened out by conventional G-banding analysis, the CNVs of chromosome 22q11 in the remaining 195 fetuses were determined by MLPA for prenatal genetic counseling. In 195 CHD fetuses with normal karyotype, 11 cases had pathological CNVs, including 22q11.2 deletion (seven cases), the deletion of 22q11 cat eye syndrome (CES) region (one case), 22q11.2 duplication (one case), 22q13.3 deletion (one case) and 17p13.3 deletion (one case). In total, our findings from MLPA screening represented 4.9 % in our cohort. Among these, three cases were inherited CNVs, and eight cases were de novo. These CNVs were further verified by single nucleotide polymorphism (SNP)-array analysis, and their chromosomal location was refined.
  
  
  CONCLUSIONS
  This study indicated that MLPA could serve as an effective test for routine prenatal diagnosis of 22q11 in fetuses with CHD.
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Dingyuan
authors.initials: D
authors.lastname: Ma
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Ultrasound, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Li
authors.initials: L
authors.lastname: Cao
authors.affiliation: Department of Ultrasound, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Wu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Fengchang
authors.initials: F
authors.lastname: Qiao
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: An
authors.initials: A
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Cuiyun
authors.initials: C
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123# Tianfei Street, Nanjing, 210029 China.
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
keywords: 22q11 deletion syndrome; Congenital heart defects; MLPA; Prenatal diagnosis