Fetal minör anomali saptanan olguların prenatal ve postnatal sonuçlarının değerlendirilmesi

Year 2019, , 28 - 34, 15.06.2019

Doğan Vatansever , Gözde Yeşil , Burak Giray , Vedat Dayıcıoğlu

https://doi.org/10.16948/zktipb.541396

Abstract

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.

Keywords

anöploidi, minör anomali, trizomi 21

Prenatal and postnatal evaluation of cases with minor fetal abnormalities

Abstract

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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