Indications and results of prenatal invasive diagnosis (amniocentesis, chorionic villus sampling, cordocentesis): A tertiary center experience

Yıl 2023, , 73 - 79, 28.12.2023

Zeynep Şeyhanlı , Betül Tokgöz , Can Ozan Ulusoy , Sadun Sucu , Gülşan Karabay , Abdüllatif Bakır , Cantekin İskender , Şevki Çelen

https://doi.org/10.46969/EZH.1390109

Öz

Objective: To evaluate the indications for prenatal invasive procedures and karyotype results in pregnant women
Materials and Methods: We conducted a retrospective analysis of the indications and karyotype results of pregnant women who opted for invasive diagnostic testing in a tertiary center between September 2022 and May 2023.
Results: Of the 331 patients who underwent prenatal genetic diagnosis, 267 underwent amniocentesis (80.7%), 62 underwent chorionic villus sampling (18.7%), and 2 underwent cordocentesis (0.6%). The most common indication for amniocentesis was an elevated risk in first-trimester screening tests (29.6%). Chorionic villus sampling was most frequently performed due to an increased risk in the first-trimester screening test (37.1%) and because of an increased nuchal translucency (37.1%). Cordocentesis was exclusively performed in cases of abnormal second-trimester ultrasound examinations. Trisomy 21 was most frequently detected in cases with increased nuchal translucency (13.3%).
Conclusions: The importance of invasive prenatal diagnostic procedures for the early detection and diagnosis of genetic disorders and the assessment of fetal health is evident. However, the decision to undergo these procedures should be made thoughtfully, with careful consideration of patient counselling and informed consent.

Anahtar Kelimeler

amniocentesis, chorionic villus sampling, cordocentesis

Prenatal invaziv tanı endikasyonları ve sonuçları (amniyosentez, koryon villus örneklemesi, kordosentez): Tersiyer bir merkez deneyimi

Öz

Amaç: Gebelerin prenatal invaziv işlem endikasyonlarını ve karyotip sonuçlarını değerlendirmek.
Gereç ve Yöntem: Eylül 2022 ile Mayıs 2023 tarihleri arasında tersiyer bir merkezde invaziv tanı testi önerilen gebe kadınlar için endikasyonların ve karyotip sonuçlarının retrospektif bir analizini yaptık.
Bulgular: Prenatal genetik tanı konulan 331 hastanın 267’sine amniyosentez (%80.7), 62’sine koryon villus örneklemesi (%18.7) ve 2’sine (%0.6) kordosentez uygulandı. Amniyosentez için en sık endikasyon ilk trimester tarama testlerinde riskin yüksek çıkmasıydı (%29.6). İlk trimester tarama testinde riskin artışı (%37.1) ve ense kalınlığının artışı (%37.1) nedeniyle en sık koryon villus örneklemesi yapıldı. Kordosentez yalnızca anormal ikinci trimester ultrason muayenesi vakalarında yapıldı. Trizomi 21 en sık ense kalınlığının arttığı olgularda (%13.3) tespit edildi.
Sonuç: Genetik bozuklukların erken tespiti ve tanısı ile fetal sağlığın değerlendirilmesinde invaziv prenatal tanı prosedürlerinin önemi açıktır. Ancak bu prosedürleri uygulama kararı, hasta danışmanlığı ve bilgilendirilmiş onam dikkate alınarak dikkatli bir şekilde verilmelidir.

Anahtar Kelimeler

amniyosentez, koryon villus örneklemesi, kordosentez

Kaynakça

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