e-ISSN: 2147-2181
e-ISSN: 2147-2181
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AbstractA 34-year-old woman during her second pregnancy, applied to our perinatology clinic for triple test. Posterior encephalocele, oligohydramnios, polycystic kidneys and polydactyly were identified in the ultrasound examination. Meckel-Gruber syndrome (MGS) was considered. A detailed briefing was given to the pregnant woman and termination option was introduced. The pregnancy was terminated at 18 weeks of gestation with the choice of the family. Autopsy results also confirmed the diagnosis.MGS is a syndrome that should be differentiated from trisomy 13 in the perinatal period and the final diagnosis is confirmed by autopsy after termination. The hereditary process should be explained to the family. We think that early diagnosis and termination of this fatal syndrome would be very helpful for reducing maternal physical and psychological trauma. Here, we discussed this rare and fatal syndrome in the light of literature. |
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| Keywords: Meckel-Gruber syndrome , Prenatal diagnosis | ||
ÖzetKliniğimizin Riskli Gebelik Polikliniğine üçlü test yaptırmak için ilk kez başvuran ikinci çocuğuna gebe 34 yaşındaki hastamıza yapılan ultrasonografik muayenede; fetusta, posterior ensefalosel, oligohidramnios, polikistik böbrekler ve polidaktili tespit edildi. Meckel Gruber Sendromu (MGS) düşünülen gebeye detaylı bilgilendirme yapıldı ve terminasyon seçeneği sunuldu. Terminasyon isteyen ailenin gebeliği 18. haftada sonlandırıldı. Otopsi sonuçları da tanıyı doğruladı.Biz, bu yazımızda, nadir görülen ve ölümcül olan MGS?nu literatür eşliğinde tartıştık. |
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| Anahtar kelimeler: Meckel-Gruber sendromu , Prenatal tanı | ||
