PMID- 25017279
OWN - NLM
STAT- MEDLINE
DCOM- 20150423
LR  - 20161125
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 53
IP  - 2
DP  - 2014 Jun
TI  - Prenatal diagnosis and molecular cytogenetic characterization of chromosome 
      22q11.2 deletion syndrome associated with congenital heart defects.
PG  - 248-51
LID - S1028-4559(14)00083-7 [pii]
LID - 10.1016/j.tjog.2014.04.021 [doi]
AB  - OBJECTIVE: To report prenatal diagnosis of 22q11.2 deletion syndrome in a 
      pregnancy with congenital heart defects in the fetus. CASE REPORT: A 26-year-old, 
      primigravid woman was referred for counseling at 24 weeks of gestation because of 
      abnormal ultrasound findings of fetal congenital heart defects. The Level II 
      ultrasound revealed a singleton fetus with heart defects including overriding 
      aorta, small pulmonary artery, and ventricular septal defect. Cordocentesis was 
      performed. The DNA extracted from the cord blood was analyzed by multiplex 
      ligation-dependent amplification (MLPA). The MLPA showed deletion in the DiGeorge 
      syndrome (DGS) critical region of chromosome 22 low copy number repeat (LCR) 
      22-A approximately C. Conventional cytogenetic analysis revealed a normal male karyotype. 
      Repeated amniocentesis and cordocentesis were performed. Whole-genome array 
      comparative genomic hybridization (aCGH) on cord blood was performed. aCGH 
      detected a 3.07-Mb deletion at 22q11.21. Conventional cytogenetic analysis of 
      cultured amniocytes revealed a karyotype 46,XY. Metaphase fluorescence in situ 
      hybridization (FISH) analysis on cultured amniocytes confirmed an interstitial 
      22q11.2 deletion. CONCLUSION: Prenatal ultrasound findings of congenital heart 
      defects indicate that the fetuses are at increased risk for chromosome 
      abnormalities. Studies for 22q11.2 deletion syndrome should be considered adjunct 
      to conventional karyotyping. Although FISH has become a standard procedure for 
      diagnosis of 22q11.2 deletion syndrome, MLPA can potentially diagnose a broader 
      spectrum of abnormalities, and aCGH analysis has the advantage of refining the 
      22q11.2 deletion breakpoints and detecting uncharacterized chromosome 
      rearrangements or genomic imbalances.
CI  - Copyright (c) 2014. Published by Elsevier B.V.
FAU - Kuo, Yu-Ling
AU  - Kuo YL
AD  - Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, 
      Kaohsiung Medical University, Kaohsiung, Taiwan.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; 
      Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese 
      Medicine, College of Chinese Medicine, China Medical University, Taichung, 
      Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming 
      University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of 
      Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Wang, Liang-Kai
AU  - Wang LK
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - GenePhile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Chang, Tung-Yao
AU  - Chang TY
AD  - Taiji Fetal Medicine Center, Taipei, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Yu-Ting
AU  - Chen YT
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Chang, Shu-Yuan
AU  - Chang SY
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 22q11.2 Deletion Syndrome, Distal
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Adult
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Comparative Genomic Hybridization
MH  - DiGeorge Syndrome/*diagnosis/genetics
MH  - Female
MH  - Fetal Diseases/*diagnostic imaging/*genetics
MH  - Heart Defects, Congenital/*diagnostic imaging/genetics
MH  - Humans
MH  - In Situ Hybridization
MH  - Karyotype
MH  - Male
MH  - Multiplex Polymerase Chain Reaction
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Ultrasonography
OTO - NOTNLM
OT  - 22q11.2 deletion syndrome
OT  - congenital heart defects
OT  - prenatal diagnosis
EDAT- 2014/07/16 06:00
MHDA- 2015/04/24 06:00
CRDT- 2014/07/15 06:00
PHST- 2014/04/16 00:00 [accepted]
PHST- 2014/07/15 06:00 [entrez]
PHST- 2014/07/16 06:00 [pubmed]
PHST- 2015/04/24 06:00 [medline]
AID - S1028-4559(14)00083-7 [pii]
AID - 10.1016/j.tjog.2014.04.021 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2014 Jun;53(2):248-51. doi: 10.1016/j.tjog.2014.04.021.