Retrospective analysis of cases undergoing amniocentesis as an invasive prenatal diagnosis method in our university clinic

Kliniğimizde invaziv prenatal tanı yöntemi olarak amniyosentez uygulanan olguların retrospektif değerlendirilmesi

Abstract

Abstract Purpose: We aim to evaluate the results obtained from genetic amniocentesis cases performed with various indications at our Gynecology and Obstetrics clinic. Materials and methods: In our study, cases who applied to our clinic for prenatal diagnosis evaluation between November 2018 and August 2020 and underwent amniocentesis were included. The demographic data, amniocentesis indications and results of the cases were retrospectively evaluated and summarized. Results: Of the 246 cases evaluated; Median age was 34 (IQR:10), median gestational week was 17 (IQR:3), median gravity was 3 (IQR:2), median parity was 1 (IQR:1), mean number of abortions was 0.6 (SD:0.96). Risk factors that are indications for amniocentesis were evaluated. 146 (59.3%) patients had an abnormality in the first trimester combined test, 39 (15.9%) patients had an abnormality in the triple screen test, 14 (5.7%) patients had an abnormality in the quadruple screening test, 24 (9.8%) patients had abnormal USG findings, 6 (2.4%) patients had advanced maternal age, and 17 (6.9%) patients had other risk factors. Amniocentesis was abnormal in 4.5% of the cases. It was normal in 128 (52%) patients with 46 XX, and 107 (43.5%) patients with 46 XY. In 5 out of 10 cases (2%) in abnormal results 47 XX+21, 3 patients (1.2%) 47 XY+21, 1 patient (0.4%) 47 XX+13, 1 patient (0.4%). While numerical abnormality was detected as 47 XXY, a structural abnormality was found as 46 XX t (6;13) (p23;q13) in 1 patient. In cases with chromosomal anomalies, the median maternal age was 34 (IQR=8), median gestational week was 18 (IQR=3), median gravity was 2.5 (IQR=2), and median parity was 1 (IQR=1). Conclusion: In our study, the most common risk factor for amniocentesis indication was an abnormality in maternal screening tests, while abnormal USG findings were indicative in younger patients.

Özet

Amaç: Kadın Hastalıkları ve Doğum kliniğimizde çeşitli endikasyonlarla gerçekleştirilen genetik amniyosentez olgularından elde edilen sonuçları değerlendirmeyi amaçlamaktayız. Gereç ve yöntem: Çalışmamızda Kasım 2018-Ağustos 2020 tarihleri arasında kliniğimize prenatal tanı değerlendirmesi nedeniyle başvurup amniyosentez uygulanan olgular dahil edilerek, olguların demografik verileri, amniyosentez endikasyonları ve sonuçları retrospektif olarak değerlendirilerek özetlendi. Bulgular: Değerlendirmeye alınan 246 olgunun ortanca yaşı 34 (IQR:10), ortanca gebelik haftası 17 (IQR:3), ortanca gravide 3 (IQR:2), ortanca parite 1 (IQR:1), ortalama abortus sayısı 0,6 (SD:0,96) idi. Amniyosentez endikasyonları olan risk faktörleri değerlendirildiğinde 146 hastada (%59,3) 1. trimester kombine testinde anormallik, 39 hastada (%15,9) 3’lü tarama testinde anormallik, 14 hastada (%5,7) 4’lü tarama testinde anormallik, 24 hastada (%9,8) anormal USG bulgusu, 6 hastada (%2,4) ileri anne yaşı saptanırken, 17 hastada (%6,9) diğer risk faktörleri mevcuttu. Olguların %4,5’inde amniyosentez anormal olarak sonuçlandı. 128 hastada (%52) 46 XX, 107 hastada (%43,5) 46 XY ile normal olarak sonuçlandı. Anormal olarak sonuçlanan 10 olgudan 5’inde (%2) 47 XX+21, 3 hastada (%1,2) 47 XY+21, 1 hastada (%0,4) 47 XX+13, 1 hastada (%0,4) 47 XXY olarak sayısal anomali saptanırken 1 hastada 46 XX t (6;13) (p23;q13) yapısal anomali saptandı. Kromozomal anomali saptanan olgularda ortanca anne yaşı 34 (IQR=8), ortanca gebelik haftası 18 (IQR=3), ortanca gravide 2,5 (IQR=2), ortanca parite ise 1(IQR=1) idi. Sonuç: Çalışmamızda amniyosentez endikasyonu oluşturan en sık risk faktörü maternal tarama testlerinde anormallik iken anormal USG bulgusu daha genç hastalarda endikasyon oluşturmaktaydı.