Chih-Ping Chen , Chen-Yu Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang
{"title":"产前超声诊断胎儿患有新发 10p12.1p11.23 微缺失，包含 WAC 基因，并伴有双侧肾积水和右足癣","authors":"Chih-Ping Chen , Chen-Yu Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang","doi":"10.1016/j.tjog.2024.05.008","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>We present prenatal diagnosis of <em>de novo</em> 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound.</p></div><div><h3>Case Report</h3><p>A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512–29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of <em>MYO3A</em>, <em>GAD2</em>, <em>APBB1IP</em>, <em>PDSS1</em>, <em>ABI1</em>, <em>ANKRD26</em>, <em>YME1L1</em>, <em>MASTL</em>, <em>ACBD5</em>, <em>PTCHD3</em>, <em>RAB18</em>, <em>MKX</em>, <em>ODAD2</em>, <em>MPP7</em>, <em>WAC</em> and <em>BAMBI</em>. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing <em>WAC</em>.</p></div><div><h3>Conclusion</h3><p>Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001335/pdfft?md5=309ac8708af4501d64717d2cbd5e1f27&pid=1-s2.0-S1028455924001335-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound\",\"authors\":\"Chih-Ping Chen , Chen-Yu Chen , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang\",\"doi\":\"10.1016/j.tjog.2024.05.008\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>We present prenatal diagnosis of <em>de novo</em> 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound.</p></div><div><h3>Case Report</h3><p>A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512–29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of <em>MYO3A</em>, <em>GAD2</em>, <em>APBB1IP</em>, <em>PDSS1</em>, <em>ABI1</em>, <em>ANKRD26</em>, <em>YME1L1</em>, <em>MASTL</em>, <em>ACBD5</em>, <em>PTCHD3</em>, <em>RAB18</em>, <em>MKX</em>, <em>ODAD2</em>, <em>MPP7</em>, <em>WAC</em> and <em>BAMBI</em>. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing <em>WAC</em>.</p></div><div><h3>Conclusion</h3><p>Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.</p></div>\",\"PeriodicalId\":49449,\"journal\":{\"name\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001335/pdfft?md5=309ac8708af4501d64717d2cbd5e1f27&pid=1-s2.0-S1028455924001335-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001335\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924001335","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound
Objective
We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound.
Case Report
A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512–29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC.
Conclusion
Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.
期刊介绍：
Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology.
The aims of the journal are to:
1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health
2.Deliver evidence-based information
3.Promote the sharing of clinical experience
4.Address women-related health promotion
The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.
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