{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:57:01Z","timestamp":1767830221869,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T00:00:00Z","timestamp":1602028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess the experience on prenatal diagnosis of Miller\u2013Dieker syndrome (MDS) to further delineate the fetal presentation of this syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective study. Fetal MDS was diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, and pregnancy outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four cases were diagnosis as MDS by CMA. The most common sonographic features were ventriculomegaly (3\/4) and polyhydramnios (2\/4). Deletion sizes ranged from 1.5 to 5.4 Mb. All microdeletions were located at the MDS critical region and showed haploinsufficiency of the YWHAE, CRK, and PAFAH1B1. All patients chose to terminate the pregnancy. Parental chromosome analysis were preformed in three cases and demonstrated that two cases were de novo and one case was caused by inherited derivative chromosomes from parental balanced translocations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The most common prenatal ultrasound findings of MDS were ventriculomegaly and polyhydramnios. CMA can improve diagnostic precision for detecting MDS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12407","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T18:28:28Z","timestamp":1602095308000},"page":"92-96","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal diagnosis of Miller\u2013Dieker syndrome by chromosomal microarray"],"prefix":"10.1111","volume":"85","author":[{"given":"Xiaomei","family":"Shi","sequence":"first","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Huang","sequence":"additional","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Lu","sequence":"additional","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"He","sequence":"additional","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Liu","sequence":"additional","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4213-4106","authenticated-orcid":false,"given":"Jing","family":"Wu","sequence":"additional","affiliation":[{"name":"Gentic Medical Center Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452753"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00080"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/374320"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(10)60015-0"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.09.044"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2017.12.022"},{"key":"e_1_2_9_8_1","first-page":"584","article-title":"Clinical and molecular diagnosis of Miller\u2013Dieker syndrome","volume":"48","author":"Dobyns W. 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