İkinci Trimester Tarama Ultrasonografisinde Anöploidi ve Sonografik Belirteçler

Abstract

Bu çalışmanın amacı rutin ikinci trimester ultrasonografisinde saptanan belirteç ve anomalilerin başta trizomi 21 olmak üzere karyotip anomalilerinin tanısındaki etkinliklerini araştırmaktır. Rutin tarama amacıyla on yıllık süre içinde hastanemize refere edilen ve ikinci trimesterde ayrıntılı ultrasonografik inceleme yapılan gebelerin ultrasonografi raporları retrospektif olarak incelendi. İnvazif test sonuçları, majör konjenital anomaliler ve sonografik belirteçler not edildi. Karyotip anomalisi saptanan olgular çalışma grubunu diğer olgular kontrol grubunu oluşturdu. Toplam 4512 sonografik inceleme analiz edildi. Çalışma grubunu invazif işlem yapılarak karyotip anomalisi tanısı almış 76 olgu (%1,7) oluşturdu. Diğer 4436 (%98,3) olgu ise kontrol grubunu oluşturdu. Karyotip anomalisi olan fetüslerde belirteçlerinin görülme sıklığı %1,3-%32,9 oranındaydı. Artmış ense pili kalınlığı karyotip anomalisi saptanan olguların %32,9’unda, karyotip anomalisi saptanmayan olguların %1,8’inde saptandı (RR:18). Ense pilisi kalınlığında artma trizomi 13’de %66,7, trisomi 21’de %43,7 ve trisomi 18’de %25 oranlarında saptandı. En yüksek pozitif olabilirlik oranı (104.9) ve odds oranı (27.6) artmış ense pilisi kalınlığı ile birlikteydi. Karyotip anomalisi açısından ikinci en duyarlı belirteç femur kısalığı olarak bulundu. En sık izlenen majör anomaliler ventrikülomegali, duodenal atrezi, kistik higroma, hidrops fetalis, omfolosel ve çeşitli kardiyak patolojiler idi. Sonuç olarak rutin ikinci tirmester ultrasonografisi ile tanımlanan sonografik belirteçlerle anöploidi taraması son derece sınırlı etkinliğe sahiptir.

Keywords

• Anöploidi
• ,ikinci trimester,
• ultrason
• marker

Fetal Aneuploidy and Sonographic Findings in Second Trimester Screening

Abstract

The aim of this study is to investigate the effectiveness of sonographic findings and soft markers in diagnosis of fetal chromosomal abnormalities in second trimester. Pregnant women referred to our hospital for routine midtrimester sonographic scan were included in the study. Medical records of the pregnant women were retrospectively analyzed during ten years period. Soft markers, major congenital abnormalities and diagnostic test results were noted. Fetuses with chromosomal abnormalities were in the study group and others were in the control group. A total of 4512 ultrasound records were retrospectively analyzed. Study group consisted of 76 (%1,7) fetuses with chromosomal abnormality. Control group consisted of 4436 (%98,3) fetuses. Sonographic markers were seen in 1,3- 32,9 % of fetuses with chromosomal abnormality. The rate of increased nuchal thickness was 32.9 and 1.8 in study and control group. Increased nuchal thickness was seen in 66.7% of trisomy 13 and 43.7 % of trisomy 21 and 25% of trisomy 18. Increased nuchal thickness was the most prominent finding with the highest positive likelihood (104.9) and odds ratio (27.6). The short femur length was the second leading finding in fetuses with chromosomal abnormalities. Major congenital abnormalities associated with fetal chromosomal abnormalities were ventriculomegaly, duodenal atresia, cystic hygroma omphalocele, hydrops fetalis and complex cardiac abnormalities. In conclusion, routine midtrimester ultrasound scan has limited effectiveness on the diagnosis of fetal chromosomal abnormalities.

Keywords

• Aneuploidy,
• , second trimester,
• ultrasound,

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