Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review
Obstetrics & Gynecology Science
; : 151-154, 2014.
Article
ي En
| WPRIM
| ID: wpr-228427
المكتبة المسؤولة:
WPRO
ABSTRACT
Thanatophoric dysplasia (TD) is caused by mutation of the gene that encodes fibroblast growth factor 3 (FGFR3). Owing to the poor prognosis for TD, prenatal diagnosis is critical to optimal perinatal management. We report here a case of TD in twin pregnancy, which was prenatally diagnosed by DNA analysis following amniocentesis at 15 weeks, and was managed by selective fetal termination. Prenatal ultrasonography and molecular analysis to detect TD-specific mutations enable accurate diagnosis of FGFR3-related TD in utero and appropriate obstetrical management at early gestation during twin pregnancy.
Key words
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pregnancy Trimester, Second
/
Prenatal Diagnosis
/
Prognosis
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Thanatophoric Dysplasia
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Twins
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DNA
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Ultrasonography, Prenatal
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Pregnancy Reduction, Multifetal
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Diagnosis
/
Fibroblast Growth Factor 3
نوع الدراسة:
Diagnostic_studies
/
Prognostic_studies
المحددات:
Female
/
Humans
/
Pregnancy
اللغة:
En
مجلة:
Obstetrics & Gynecology Science
السنة:
2014
نوع:
Article