title: Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion.
abstract: OBJECTIVE
  To report prenatal diagnosis of 22q11.2 deletion syndrome with right aortic arch (RAA), left ductus arteriosus, cardiomegaly, and pericardial effusion in the fetus.
  
  
  METHODS
  A 35-year-old woman, gravida 2, para 1, was referred to the hospital at 31 weeks of gestation because of abnormal ultrasound findings and whole-genome array comparative genomic hybridization report. G-banding chromosome analysis revealed a karyotype of 46,XX. Level II ultrasound at 22 weeks of gestation revealed RAA with the presence of the aortic arch on the right side of trachea at three vessels and trachea view, left ductus arteriosus, and mild right side pyelectasis. Cardiomegaly and pericardial effusion were also found 2 months later. Array comparative genomic hybridization detected a 2.743-Mb deletion at 22q11.2 region. Multiplex ligation-dependent amplification detected deletion in the DiGeorge syndrome critical region of chromosome 22 low copy number repeat 22-A-C. Metaphase fluorescence in situ hybridization on lymphocyte in cord blood confirmed deletion in 22q11.2 region.
  
  
  CONCLUSIONS
  Chromosome abnormalities have been found in patients with RAA. Prenatal diagnosis of RAA with or without intracardiac or extracardiac anomalies should include a diagnosis of 22q11.2 deletion syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: 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.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
authors.forename: Tsang-Ming
authors.initials: TM
authors.lastname: Ko
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Liang-Kai
authors.initials: LK
authors.lastname: Wang
authors.affiliation: Taiji Fetal Medicine Center, Taipei, Taiwan.
authors.forename: Pei-Chen
authors.initials: PC
authors.lastname: Wu
authors.affiliation: Taiji Fetal Medicine Center, Taipei, Taiwan.
authors.forename: Tung-Yao
authors.initials: TY
authors.lastname: Chang
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chien-Wen
authors.initials: CW
authors.lastname: Yang
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities; D006332:Cardiomegaly / Q000000981:diagnostic imaging; D004062:DiGeorge Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D004373:Ductus Arteriosus / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D010490:Pericardial Effusion / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: 22q11.2 deletion; prenatal diagnosis; right aortic arch