Fetal minör anomali saptanan olguların prenatal ve postnatal sonuçlarının değerlendirilmesi

Amaç: Ultrasonografide gözlenen minör belirteçlerin artmış anöploidi riskiyle ilişkili olduğu düşünülmektedir. Çalışmamızda ikinci düzey ultrasonografi sırasında saptanan minör belirteç izlenmiş olguların prenatal ve postnatal dönemde yapılan takiplerinin sonuçlarının değerlendirilmesi amaçlanmıştır. Gereç ve yöntemler: Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi’nde ikinci düzey ultrasonografik taraması gerçekleştirilen 3833 gebe çalışmamıza dahil edildi. İkinci düzey ultrasonografide minör anomalilerin izole olarak veya birden fazla minör anomalinin kombine olarak saptandığı 369 olgu vaka grubumuzu oluşturdu. Bunun dışında kalan, minör ve majör anomalinin saptanmadığı 3464 olgu ise kontrol grubumuzu oluşturdu. Bulgular: Toplam 369 hastadan 295’inde (%79,95) izole minör anomali saptanırken, 74’ünde (%20,05) ise kombine minör anomali saptanmıştır. İzole minör anomali grubunu oluşturan hastalarda 10 (%3.4) trizomi 21 olgusu, 1 (%0.3) trizomi 18 olgusu, 4 (%1.4) kistik fibroz olgusu, 2 (%0.7) kardiyak anomali olgusu, 4 (%1.4) renal anomali olgusu görüldü. Kombine minör anomali gurubu içerisinde yer alan; hiperekojen intrakardiyak odak izlenen 37 hastanın 7’sinde (%18.9) trizomi 21, 1’inde trizomi 18(%2.7), 3’ünde (%8.1) kardiyak anomali ve 3’ünde (%8.1) renal anomali mevcuttu. Sonuç: İzole minör anomali saptanması ile kombine minör anomali saptanması arasında anöploidi açısından istatistiksel olarak anlamlı fark vardır. Minör anomalilerden hiperekojen barsak, hiperekojen intrakardiyak odak, renal piyelektazi, nazal kemik hipoplazisi ve uzun kemiklerde kısalık trizomi 21 riskini istatistiksel olarak anlamlı oranda arttırmaktadır.

Anahtar Kelimeler:

anöploidi, minör anomali, trizomi 21

Prenatal and postnatal evaluation of cases with minor fetal abnormalities

Aim: Prenatal detection of minor abnormalities by fetal ultrasonographic examination are associated with increased aneuploidy risk. The aim of the study was to evaluate the prenatal and postnatal outcomes of cases with minor fetal abnormalities.Materials and methods: We reviewed 3833 women who had second-trimester ultrasonographic examination at Zeynep Kamil Research and Training Hospital, retrospectively. Three hundred sixty-nine women with fetal minor abnormalities were assigned to case group, 3464 women without fetal abnormality were assigned to control group.Results: Two hundred ninety-five (79.95%) women had isolated fetal minor abnormality and 74 (20.05%) women had multiple minor abnormalities. There were 10 (3.4%) infants with trisomy 21, 1 (0.3%) infant with trisomy 18, 4 (1.4%) infants with cystic fibrosis, 2 (0.7%) infants with congenital cardiac anomalies, and 4 (1.4%) infants with congenital renal anomalies in the single minor fetal abnormality group. There were 7 (18.9%) infants with trisomy 21, 1 (2.7%) infant with trisomy 18, 3 (8.1%) infants with congenital cardiac anomalies, and 3 (8.1%) infants with congenital renal anomalies in cases with hyperechogenic foci in the fetal heart combined with any other minor markers. Conclusion: There were statistically significant differences between the case group and control group with regard to aneuploidy. Isolated hyperechogenic bowel, isolated short femur-humerus and combination of hyperechogenic foci in the fetal heart, renal pyelectasis and hypoplasia of the nasal bone were associated with increased trisomy 21 risk.

Keywords:

aneuploidy, minor abnormality, trisomy 21,

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