title: Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.
abstract: OBJECTIVE
  To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF).
  
  
  METHODS
  This was the first pregnancy of a 31-year-old primigravid woman. The pregnancy was uneventful until 23 weeks of gestation when TOF was first noted. The woman underwent amniocentesis at 23 weeks of gestation. Conventional cytogenetic analysis was performed using cultured amniocytes and parental bloods. Array comparative genomic hybridization (aCGH) was performed on uncultured amniocytes and parental bloods. Metaphase fluorescence in situ hybridization (FISH) was performed on cultured amniocytes. Quantitative fluorescent-polymerase chain reaction (QF-PCR) analysis was performed on placental tissue and parental bloods.
  
  
  RESULTS
  Conventional cytogenetics on cultured amniocytes revealed a karyotype of 46,XY, aCGH on uncultured amniocytes revealed a de novo 4.858-Mb microdeletion in 15q14 encompassing ACTC1 and MEIS2, and metaphase FISH analysis on cultured amniocytes confirmed a 15q14 microdeletion. Postnatal phenotype included facial dysmorphism. QF-PCR assays detected a paternal origin of the 15q14 microdeletion in the fetus.
  
  
  CONCLUSIONS
  Fetuses with 15q14 microdeletion may present TOF on the second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion in addition to 22q11.2 deletion syndrome and other microdeletion syndromes.
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: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
authors.forename: Chen-Yu
authors.initials: CY
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Gene Biodesign Co. Ltd., Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
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.
authors.forename: Shin-Wen
authors.initials: SW
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Li-Feng
authors.initials: LF
authors.lastname: Chen
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 / Q000235:genetics; D000199:Actins / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D057895:Haploinsufficiency; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D017384:Sequence Deletion; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: C526913:ACTC1 protein, human; D000199:Actins; D018398:Homeodomain Proteins; C491172:MEIS2 protein, human; D014157:Transcription Factors
keywords: 15q14 microdeletion; ACTC1; MEIS2; prenatal diagnosis; tetralogy of Fallot