{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:57:56Z","timestamp":1740142676560,"version":"3.37.3"},"reference-count":11,"publisher":"Federa\u00e7\u00e3o das Associa\u00e7\u00f5es de Ginecologia e Obstetr\u00edcia","issue":"09","license":[{"start":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T00:00:00Z","timestamp":1634688000000},"content-version":"vor","delay-in-days":49,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Bras Ginecol Obstet"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome (AIS) is an incidental and rare finding. We wish to present the diagnosis of a prenatal index case after NIPT of cell-free fetal DNA and mismatch between fetal sex and ultrasound phenotype. In this particular case, the molecular analysis of the androgen receptor (AR) gene showed the presence of a pathogenic mutation, not previously reported, consistent with complete androgen insensitivity syndrome. Carrier testing for the mother revealed the presence of the same variant, confirming maternal hemizygous inheritance. Identification of the molecular basis of these genetic conditions enables the preimplantation or prenatal diagnosis in future pregnancies.<\/jats:p>","DOI":"10.1055\/s-0041-1735986","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T22:37:18Z","timestamp":1634769438000},"page":"710-712","source":"Crossref","is-referenced-by-count":1,"title":["Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis"],"prefix":"10.61622","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5721-8906","authenticated-orcid":false,"given":"Maria Liz","family":"Coelho","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Centro Hospitalar T\u00e2mega e Sousa, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0713-9510","authenticated-orcid":false,"given":"Elisa","family":"Soares","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Centro Hospitalar T\u00e2mega e Sousa, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8583-9072","authenticated-orcid":false,"given":"Mar\u00edlia","family":"Freixo","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Centro Hospitalar T\u00e2mega e Sousa, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4705-6960","authenticated-orcid":false,"given":"Pedro","family":"Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Centro Hospitalar T\u00e2mega e Sousa, Porto, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2798-2828","authenticated-orcid":false,"given":"Carla","family":"Marinho","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Centro Hospitalar 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