The impact of counseling indications in the decision-making process regarding second trimester prenatal genetic testing of pregnant women

Abstract

Objective: The reasons for prenatal genetic test counseling were changed over the years due to the introducing new and complex screening protocols into clinical use to determine the risk of fetal chromosomal abnormalities. The aim of this study is to investigate the effects of changing new counseling reasons on the decisions about having invasive testing of patients who are given genetic diagnosis counseling in the second trimester. Method: This retrospective study, in one-year period, was conducted on patients who received consultancy on second trimester prenatal diagnostic testing in the fetal-maternal medicine department of Ankara City Hospital, Turkey. Counselling indications for genetic testing and patients' attitudes regarding invasive procedure after counseling were evaluated. Results: During the study period, 1338 patients were given prenatal genetic test counseling in the second trimester, and amniocentesis was performed for 297 of them (22.2%). The most common indications for genetic testing were abnormal ultrasound scan results (26.5%) and aneuploidy soft markers (23.8%). The highest acceptance rate was found in patients who received counseling due to abnormal screening test results in the first trimester (44.1%). While 211 (30.8%) of high-risk pregnancies underwent amniocentesis, the rate of having amniocentesis in low-risk pregnancies was 13.2% and the difference between amniocentesis acceptance rates was significant Conclusion: The differences in the risk criteria and risk level that require prenatal genetic diagnosis may affect the decision-making processes regarding the acceptance of genetic testing in patients who receive prenatal genetic counseling in the second trimester.

Keywords

• Prenatal genetic counselling
• amniocentesis
• screening protocols
• high-risk pregnancy
• fetal anomaly

Gebe kadınların ikinci trimester prenatal genetik testine ilişkin karar verme sürecinde danışmanlık nedeninin etkisi

Abstract

Amaç: Doğum öncesi genetik tanı danışmanlığının nedenleri, fetal kromozomal anormallik riskini belirlemek için yeni ve karmaşık tarama protokollerinin klinik kullanıma girmesi nedeniyle yıllar içinde değişmiştir. Bu çalışmanın amacı, ikinci trimesterde genetik tanı danışmanlığı verilen hastaların invaziv testi yaptırma kararında danışmanlık nedeninin etkisini araştırmaktır. Metot: Bu çalışmada, Ankara Şehir Hastanesi perinatoloji kliniğinde bir yıllık sürede ikinci trimester prenatal tanı testi danışmanlığı alan hastaların kayıtları retrospektif olarak taranmıştır. Genetik testler için danışmanlık endikasyonları ve danışma sonrası invaziv test yaptırma ile ilgili hastaların tutumları değerlendirilmiştir. Bulgular: Çalışmanın kapsadığı süre içerisinde, toplam 1338 hastaya ikinci trimesterde doğum öncesi genetik test danışmanlığı verildi ve bunların 297'sine (% 22,2) amniyosentez uygulandı. Hastaların en sık anormal ultrason bulguları (% 26,5) ve anöploidi soft belirteçleri nedeniyle (% 23,8) genetik test danışmalığı aldığı görüldü. En yüksek kabul oranı ilk trimesterde anormal tarama testi sonuçları nedeniyle danışmanlık alan hastalarda bulundu (% 44.1). Yüksek riskli gebeliklerin 211'ine (% 30,8) amniyosentez yapılırken, düşük riskli gebeliklerde amniyosentez olma oranı % 13,2 idi ve amniyosentez kabul oranları arasındaki fark anlamlıydı. Sonuç: İkinci trimesterde prenatal genetik danışmanlık verilme nedeni ve risk düzeyi, hastanın testi yaptırma kararında etkili olabilir.

Keywords

• Prenatal genetic danışmanlık
• Amniyosentez
• Tarama protokolleri
• Yüksek riskli gebelik

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