Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey

Yıl 2020, Cilt: 22 Sayı: 1, 7 - 12, 30.04.2020

Emine Göktaş Reyhan Ayaz

https://doi.org/10.18678/dtfd.631734

Öz

Aim: The aim of this study is to retrospectively evaluate the indications and karyotype results of amniocentesis and chorion villus sampling performed in Health Sciences University, Van Education and Research Hospital, Department of Perinatology.
Material and Methods: In this study, 157 patients who underwent amniocentesis and 58 patients who performed chorion villus sampling procedure for different indications in our perinatology clinic between March 2017 and March 2019 were evaluated retrospectively. A spinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle for chorionic villus sampling were used.
Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% of chorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detected in amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling were numerical anomalies. The most common chromosomal anomaly of these numerical anomalies was trisomy 21. The most common indication for patients who underwent amniocentesis and chorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple or quadruple test.
Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasive tests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorion villus sampling procedures and the rate of genetic anomaly detected as a result of genetic analysis applied to these samples in our clinic were compatible with literature. It is thought that this study will contribute to the literature since this is the first study that evaluates the results of amniocentesis and chorion villus sampling in Van and nearby cities.

Anahtar Kelimeler

Amniocentesis, chorion villus sampling, chromosomal anomaly

Van ve Çevresinde Bulunan Türkiye’nin Doğu İllerindeki Prenatal Genetik Test Sonuçları

Öz

Amaç: Bu çalışmanın amacı, Sağlık Bilimleri Üniversitesi Van Eğitim ve Araştırma Hastanesi Perinatoloji Kliniğinde gerçekleştirilen amniyosentez ve koryon villus örneklemelerinin endikasyon ve karyotip sonuçlarının retrospektif olarak değerlendirilmesidir.
Gereç ve Yöntemler: Bu çalışmada, Mart 2017 ve Mart 2019 tarihleri arasında perinatoloji kliniğimizde çeşitli endikasyonlar ile amniyosentez uygulanan 157 hasta ve koryon villus örnekleme işlemi yapılan 58 hasta geriye dönük olarak incelendi. Amniyosentez işlemi için 22 Gauge spinal iğne ve koryon villus örneklemesi için ise 20 Gauge spinal iğne kullanıldı.
Bulgular: Amniyosentez yapılan olguların %14,6’sında (n=23) ve koryon villus örneklemesi yapılan vakaların ise %34,5’inde (n=20) genetik anomali saptandı. Amniyosentez sonucunda saptanan kromozom anomalilerinin 20’si (%87.0) ve koryon villus örneklemesi sonucunda saptanan anomalilerin ise 18’i (%90,0) sayısal anomali idi. Bu sayısal anomaliler arasında en sık saptanan kromozom anomalisi trizomi 21 idi. Amniyosentez ve koryon villus örneklemesi yapılan hastalarda en sık endikasyon anormal ultrason bulguları olup bu endikasyonu üçlü veya dörtlü testte risk yüksekliği takip etmekte idi.
Sonuç: Amniyosentez ve koryon villus örneklemesi, genetik hastalıkların prenatal tanısında sıklıkla kullanılan invaziv yöntemlerdir. Kliniğimizde amniyosentez ve koryon villus örnekleme endikasyonları ile örneklere uygulanan genetik analiz sonucu saptanan genetik anomali oranı literatür ile uyumlu idi. Bu çalışmanın, Van ve çevre illerdeki amniyosentez ve koryon villus örnekleme sonuçlarının değerlendirildiği ilk çalışma olması nedeniyle literatüre katkı sağlayacağı düşünülmektedir.

Anahtar Kelimeler

Amniyosentez, koryon villus örneklemesi, kromozom anomalisi

Kaynakça

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