التفاصيل البيبلوغرافية
| العنوان: |
Prenatal early diagnosis of Turner syndrome. |
| المؤلفون: |
Vochin, Andreea, Istrate-Ofițeru, Anca-Maria, Zorilă, George Lucian, Berbecaru, Elena-Iuliana-Anamaria, Ruican, Dan, Rămescu, Cătălina, Enache, Iuliana Alina, Iliescu, Dominic Gabriel |
| المصدر: |
Ginecologia.ro; 2023 Supplement, Vol. 11, p43-43, 1/2p |
| مصطلحات موضوعية: |
TURNER'S syndrome, PRENATAL diagnosis, FETAL heart, ABORTION, EARLY diagnosis, GONADAL dysgenesis, MITRAL valve insufficiency |
| مستخلص: |
Turner syndrome (TS) is a genetic disease with a female phenotype and the most frequent 45,XO karyotype. Prenatal diagnosis is based on ultrasound examination, which can suggest structural abnormalities and genetic assessment. Fifty percent of the cases are detected by ultrasound examination with major anomalies. Case presentation. A 29-year-old patient, with a caesarean section delivery four years before, referred for routine screening of a first-trimester pregnancy. The ultrasound exam revealed a 12-weeks of gestation singleton pregnancy, with increased nuchal translucency (6 mm), left heart hypoplasia, septal interventricular defect, mitral regurgitation and mitral valve dysplasia, with the reversed aortic flow. After counseling, the couple decided the termination of pregnancy due to its unfavorable prognosis. The suspected ultrasound anomalies were confirmed by autopsy. Also, a new computed fetal heart reconstruction technique was used for confirming fetal heart defects, as for this gestational age is barely impossible to correctly assess the anatomical structures. Turner syndrome (45,XO) karyotype was confirmed. Conclusions. The first-trimester structural ultrasound screening is important, as severe structural anomalies can be identified. With an early diagnosis and proper counseling, the couple may decide the termination of pregnancy. The fetal autopsy evaluation confirms the data obtained through the ultrasound examination, and with a proper technique, the microscopic evaluation, with special software reconstruction, can confirm fetal heart disorders, in a proper manner. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |