مورد إلكتروني
Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn
| العنوان: | Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn |
|---|---|
| عناروين إضافية: | Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender |
| المصدر: | Trier , C , Cleemann , L H , Hjelvang , B R , Ambye , L & Jørgensen , F S 2019 , ' Androgent insensitivitetssyndrom opdaget pga. diskordans mellem prænatale vurderinger af fosterkøn ' , Ugeskrift for Laeger , bind 181 , V09190503 . < |
| بيانات النشر: | 2019 |
| تفاصيل مُضافة: | Trier, Cæcilie Cleemann, Line Hartvig Hjelvang, Brian Rafn Ambye, Louise Jørgensen, Finn Stener |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | In this case report, a pregnant woman chose non-invasive prenatal testing (NIPT) following a combined first-trimester screening showing a risk of trisomy 21 at 1:200. The NIPT was normal, and the sex of the fetus was predicted to be male. At 20 gestational weeks, an ultrasound examination predicted the fetus to be female. Because of these discordant results, an amniocentesis was offered but declined. The child was postnatally tested with a karyotype: 46,XY and found heterozygous for a pathogenic variant in the androgen receptor gene, which may cause partial or complete androgen insensitivity syndrome. |
| مصطلحات الفهرس: | Amniocentesis, Androgen-Insensitivity Syndrome/diagnosis, Child, Down Syndrome, Female, Humans, Male, Pregnancy, Pregnancy Complications/diagnosis, Prenatal Diagnosis, Trisomy, article |
| URL: | |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/closedAccess |
| ملاحظة: | Danish |
| أرقام أخرى: | DAV oai:pure.atira.dk:publications/67494774-c415-4949-ac78-9348f63b8b13 1322743612 |
| المصدر المساهم: | UNIV OF COPENHAGEN From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1322743612 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |