Chih-Ping Chen1, Chen-Yu Chen2, Schu-Rern Chern3, Peih-Shan Wu4, Yen-Ni Chen5, Shin-Wen Chen5, Li-Feng Chen5, Chien-Wen Yang3, Wayseen Wang6. 1. 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. 2. 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. 3. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. 4. Gene Biodesign Co. Ltd., Taipei, Taiwan. 5. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. 6. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Abstract
OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF). MATERIALS AND 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. CONCLUSION: 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.
OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF). MATERIALS AND 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. CONCLUSION: 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: Rosalind Verheije; Gabriel S Kupchik; Bertrand Isidor; Hester Y Kroes; Sally Ann Lynch; Lara Hawkes; Maja Hempel; Bruce D Gelb; Jamal Ghoumid; Guylaine D'Amours; Kate Chandler; Christèle Dubourg; Sara Loddo; Zeynep Tümer; Charles Shaw-Smith; Mathilde Nizon; Michael Shevell; Evelien Van Hoof; Kwame Anyane-Yeboa; Gaetana Cerbone; Jill Clayton-Smith; Benjamin Cogné; Pierre Corre; Anniek Corveleyn; Marie De Borre; Tina Duelund Hjortshøj; Mélanie Fradin; Marc Gewillig; Elizabeth Goldmuntz; Greet Hens; Emmanuelle Lemyre; Hubert Journel; Usha Kini; Fanny Kortüm; Cedric Le Caignec; Antonio Novelli; Sylvie Odent; Florence Petit; Anya Revah-Politi; Nicholas Stong; Tim M Strom; Ellen van Binsbergen; Koenraad Devriendt; Jeroen Breckpot Journal: Eur J Hum Genet Date: 2018-10-05 Impact factor: 4.246