title: Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia.
abstract: OBJECTIVE
  Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH.
  
  
  METHODS
  A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872-48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction.
  
  
  CONCLUSIONS
  Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.
authors: 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: Chih-Ping
authors: CP
authors: Chen
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
authors: Yeou-Lih
authors: YL
authors: Wang
authors: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Schu-Rern
authors: SR
authors: Chern
authors: Mackay Medicine, Nursing and Management College, Taipei, Taiwan; Department of Radiology, Mackay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan.
authors: Yu-Peng
authors: YP
authors: Liu
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Cheng-Ran
authors: CR
authors: Peng
authors: Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors: Yu-Ling
authors: YL
authors: Kuo
authors: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors: Peih-Shan
authors: PS
authors: Wu
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Wen-Lin
authors: WL
authors: Chen
authors: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors: Wayseen
authors: W
authors: Wang
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000649:Amniocentesis; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004314:Down Syndrome / Q000175:diagnosis* / Q000196:embryology; D005260:Female; D005817:Genetic Counseling; D065630:Hernias, Diaphragmatic, Congenital / Q000175:diagnosis* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
keywords: Down syndrome; array comparative genomic hybridization; congenital diaphragmatic hernia; prenatal diagnosis; trisomy 21