Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound

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Title:	Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound
Authors:	陳持平;Chen, Chih-Ping;Cha, Tung-Yao;Chang, Tung-Yao;Hung, Fang-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Lee, Chen-Chi;Wang, Wayseen
Contributors:	生物科技學系
Date:	2017-12
Issue Date:	2018-04-03 09:13:23 (UTC+8)
Abstract:	Objective We 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 report A 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. Conclusion Prenatal diagnosis of facial cleft with IUGR should raise a suspicion of subtle chromosome deletions.
Relation:	Taiwanese Journal of Obstetrics & Gynecology
Appears in Collections:	[生物科技學系] 期刊論文

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