Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound |
| |
| Authors: | Chih-Ping Chen Tung-Yao Chang Fang-Yu Hung Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Shih-Ting Lai Tzu-Yun Chuang Chen-Chi Lee Wayseen Wang |
| |
| Affiliation: | 1. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan;3. Department of Biotechnology, Asia University, Taichung, Taiwan;4. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;5. Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan;7. Taiji Fetal Medicine Center, Taipei, Taiwan;8. Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan;9. Gene Biodesign Co. Ltd., Taipei, Taiwan;10. Department of Bioengineering, Tatung University, Taipei, Taiwan |
| |
| Abstract: | ObjectiveWe present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound.Case reportA 29-year-old, primigravid woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46, XX. However, level II ultrasound at 21 weeks of gestation revealed a fetus with IUGR and bilateral cleft lip and palate. Repeat amniocentesis was performed at 21 weeks of gestation, and array comparative genomic hybridization using uncultured amniocytes revealed a 13.5-Mb interstitial deletion of 8q22.2-q23.3 encompassing 37 Online Mendelian Inheritance of in Man (OMIM) genes including SPAG1, GRHL2, NCALD, RRM2B and ZFPM2. Polymorphic DNA marker analysis determined a paternal origin of the deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with a depressed nose and bilateral cleft lip and palate.ConclusionPrenatal diagnosis of facial cleft with IUGR should raise a suspicion of subtle chromosome deletions. |
| |
| Keywords: | 8q22.2-q23.3 deletion Cleft lip and palate Intrauterine growth restriction Prenatal diagnosis Ultrasound |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
