Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome
Abstract: Swyer syndrome, also known as complete gonadal dysgenesis, is characterized by an individual who has an XY karyotype but is phenotypically female. It is typically diagnosed in adolescence after investigations for primary amenorrhea. The estimated prevalence is 1 in 20,000 to 80,000 births. Mutations in the DNA-binding region of the SRY gene account for approximately 15 to 20% of cases, with the remaining cases caused by other gene mutations. There are no reports of the established diagnosis of Swyer syndrome prenatally, or of the sonographic features that may be associated with it. This report outlines the details of a 33-year-old primigravida in whom a fetal cystic hygroma was noted on ultrasound at 12 weeks gestation. Chorionic villous sampling revealed a diagnosis of fetal Swyer syndrome. The fetus progressed to develop severe fetal hydrops and a parental decision for termination of pregnancy was made at 15 weeks of gestation.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Prenatal Diagnosis and Fetal Sonographic Features of Swyer Syndrome ; volume:10 ; number:01 ; year:2023 ; pages:036-039
Journal of fetal medicine ; 10, Heft 01 (2023), 036-039
- Contributor
-
Kane, Daniel T.
Dempsey, Mark A.
Burke, Annette L.
Morrison, John J.
- DOI
-
10.1055/s-0043-57035
- URN
-
urn:nbn:de:101:1-2023081415322720946609
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:58 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kane, Daniel T.
- Dempsey, Mark A.
- Burke, Annette L.
- Morrison, John J.
Other Objects (12)
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report
Prenatal diagnosis using sonographic guided cordocentesis
Prenatal diagnosis of fetal syndromes
Prenatal sonographic diagnosis of congenital sacrococcygeal teratoma and management
Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes
Prenatal diagnosis of a fetal harlequin ichthyosis
Prenatal diagnosis of fetal umbilical cord teratoma
Orocervical foetus-in-foetu with prenatal sonographic diagnosis: a case report
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Prenatal Diagnosis and Perinatal Management of Fetal Sacrococcygeal Teratoma
Prenatal diagnosis of fetal midgut volvulus: a case report
Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report
Prenatal diagnosis using sonographic guided cordocentesis
Prenatal diagnosis of fetal syndromes
Prenatal sonographic diagnosis of congenital sacrococcygeal teratoma and management
Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes
Prenatal diagnosis of a fetal harlequin ichthyosis
Prenatal diagnosis of fetal umbilical cord teratoma
Orocervical foetus-in-foetu with prenatal sonographic diagnosis: a case report
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Prenatal Diagnosis and Perinatal Management of Fetal Sacrococcygeal Teratoma
Prenatal diagnosis of fetal midgut volvulus: a case report
Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report
Prenatal diagnosis using sonographic guided cordocentesis
Prenatal diagnosis of fetal syndromes
Prenatal sonographic diagnosis of congenital sacrococcygeal teratoma and management
Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes
Prenatal diagnosis of a fetal harlequin ichthyosis
Prenatal diagnosis of fetal umbilical cord teratoma
Orocervical foetus-in-foetu with prenatal sonographic diagnosis: a case report
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Prenatal Diagnosis and Perinatal Management of Fetal Sacrococcygeal Teratoma
Prenatal diagnosis of fetal midgut volvulus: a case report