{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:14:18Z","timestamp":1769156058799,"version":"3.49.0"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Aplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>We reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died <jats:italic>in utero<\/jats:italic> in the second trimester. Genetic testing in both children showed a heterozygous mutation in the <jats:italic>ITGB4<\/jats:italic> gene [17q25 exon 8, c. 794 dupC, (<jats:italic>p<\/jats:italic>. Ala266fs) and exon 15, c. 1860G\u2009&amp;gt;\u2009A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.1005272","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T05:51:00Z","timestamp":1668491460000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita"],"prefix":"10.3389","volume":"10","author":[{"given":"Xiu-Fang","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shang-Wen","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"B1","first-page":"556","article-title":"Extrait d'une lettre au sujet de trois enfants de la m\u00eame m\u00e8re n\u00e9s avec partie des extr\u00e9mit\u00e9s d\u00e9nu\u00e9e de peau","volume":"26","author":"Cordon","year":"1767","journal-title":"J Med Chir Pharm"},{"key":"B2","doi-asserted-by":"publisher","first-page":"273","DOI":"10.4103\/sni.sni_188_17","article-title":"Aplasia cutis congenita: two case reports and discussion of the literature","volume":"8","author":"Alexandros","year":"2017","journal-title":"SurgNeurol Int"},{"key":"B3","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/j.bjps.2003.12.026","article-title":"Aplasia cutis congenita of the trunk in a Saudi newborn","volume":"57","author":"TaifourSuliman","year":"2004","journal-title":"Br J Plast Surg"},{"key":"B4","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1159\/000478889","article-title":"A case of aplasia cutis congenita type VI: bart syndrome","volume":"9","author":"Alfayez","year":"2017","journal-title":"Case Rep Dermatol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"760","DOI":"10.12968\/jowc.2016.25.12.760","article-title":"Treatment of multiple wounds of aplasia cutis congenita on the lower limb: a case report","volume":"25","author":"Cherubino","year":"2016","journal-title":"J Wound Care"},{"key":"B6","doi-asserted-by":"publisher","first-page":"e1003573","DOI":"10.1371\/journal.pgen.1003573","article-title":"BMS1 Is mutated in aplasia cutis congenita","volume":"9","author":"Marneros","year":"2013","journal-title":"PLoS Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1002\/ajmg.a.38078","article-title":"Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: a possible new disorder involving the SUMOylation pathway","volume":"173","author":"Marble","year":"2017","journal-title":"Am J Med Genet Part A"},{"key":"B8","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ijgo.2014.11.029","article-title":"Aplasia cutis congenita presenting as vacuum - extractor-related trauma","volume":"129","author":"Marcovici","year":"2015","journal-title":"Int J Gynecol Obstet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1590\/abd1806-4841.20153078","article-title":"Aplasia cutis congenital of the scalp\u2013what are the steps to be followed? Case report and review of the literature","volume":"90","author":"Brzezinski","year":"2015","journal-title":"An Bras Dermatol"},{"key":"B10","first-page":"293","article-title":"Aplasia cutis congenita in a newborn child associated with two Fetus papyraceous","volume":"23","author":"Simic","year":"2015","journal-title":"ActaDermatovenerol Croat"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1097\/SCS.0000000000002678","article-title":"Aplasia cutis congenita associated with aplasia of the superficial temporal artery","volume":"27","author":"Choi","year":"2016","journal-title":"J Craniofac Surg"},{"key":"B12","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/j.annder.2016.02.018","article-title":"Aplasia cutis congenita and antithyroid drugs during pregnancy: case series and literature review","volume":"143","author":"Sachs","year":"2016","journal-title":"Ann DermatolVenereol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1111\/ijd.12707","article-title":"Aplasia cutis congenita: report of 22 cases","volume":"54","author":"Mesrati","year":"2015","journal-title":"Int J Dermatol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1016\/S0190-9622(86)70082-0","article-title":"Aplasia cutis congenita: a clinical review and proposal for classification","volume":"14","author":"Frieden","year":"1986","journal-title":"J Am Acad Dermatol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"1662","DOI":"10.1097\/SCS.0b013e31826542de","article-title":"Management of aplasia cutis congenita of the scalp","volume":"23","author":"Harvey","year":"2012","journal-title":"J Craniofac Surg"},{"key":"B16","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1038\/nrg.2016.97","article-title":"Prenatal and pre-implantation genetic diagnosis","volume":"17","author":"Vermeesch","year":"2016","journal-title":"Nat Rev Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1080\/19396368.2021.2005718","article-title":"Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia","volume":"68","author":"He","year":"2022","journal-title":"Syst Biol Reprod Med"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-022-02221-z","article-title":"Multidisciplinary management for peutz\u2013jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing","volume":"17","author":"Xu","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"B19","doi-asserted-by":"publisher","first-page":"2047","DOI":"10.1056\/NEJMoa2103613","article-title":"Live birth with or without preimplantation genetic testing for aneuploidy","volume":"385","author":"Yan","year":"2021","journal-title":"N Engl J Med"},{"key":"B20","first-page":"1","article-title":"Preimplantation genetic testing for aneuploidy (PGT-A)\u2014a single-center experience","author":"Nair","year":"2022","journal-title":"J Assist Reprod Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1005272\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T05:51:02Z","timestamp":1668491462000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.1005272\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,15]]},"references-count":20,"alternative-id":["10.3389\/fped.2022.1005272"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.1005272","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,15]]},"article-number":"1005272"}}