Cytogenetic evaluation of 661 prenatal samples

Year 2024, Volume: 49 Issue: 2, 248 - 259, 30.06.2024

Seda Eren Keskin , Buket Doğruoğlu , Zeynep İlkay , Deniz Sünnetçi Akkoyunlu , Naci Çine , Hakan Savlı , Yasemin Doğan , Gülseren Yücesoy

https://doi.org/10.17826/cumj.1380467

Abstract

Purpose: Fetal karyotyping is commonly used to detect chromosomal abnormalities in high-risk pregnancies. Our study is intended to evaluate the results of fetal karyotyping performed in our laboratory for six years and to determine the frequency of chromosomal abnormalities, thus revealing their clinical significance.
Materials and Methods: The cytogenetic results of 661 prenatal samples with an indication for invasive prenatal procedures (amniocentesis, cordocentesis) who had a chromosome analysis and FISH testing between February 2013 and March 2019 were analyzed in our study.
Results: A total of 72 (10.8%) abnormal fetal karyotypes were observed in the study group. Trisomy 21 was the most common numerical aberration (29%, n = 23), followed by trisomy 18 (16%, n = 13), trisomy 13 (2.6%, n = 2), triploid (2.6%, n = 2), sex chromosome aneuploidies (5.2%, n = 4), and rare mosaic autosomal aneuploidies (2.6%, n = 2). Inversions (16%, n = 13), inherited translocations (7.8%, n = 6), unbalanced/de novo translocations (6.5%, n = 5), deletions (5.2%, n = 4), additional chromosomes (1.3%, n = 1), isochromosomes (1.3%, n = 1), and derivative chromosomes (1.3%, n = 1) were identified as structural abnormalities. Of the 18 cases that underwent FISH testing, trisomy 18 was detected in 1 case and tetrasomy 12p was detected in 1 case.
Conclusion: Fetal karyotyping is still an effective and valuable method in the diagnosis of fetal anomalies and provision of effective genetic counseling. In addition, fetal karyotyping should be supported by complementary methods and advanced technologies for accurate and rapid prenatal genetic diagnosis.

Keywords

Prenatal Diagnosis, Amniocentesis, Cordocentesis, Cytogenetic analysis, karyotyping, chromosomal abnormality

661 prenatal örneğin sitogenetik değerlendirmesi

Abstract

Amaç: Fetal karyotipleme, yüksek riskli gebeliklerde kromozomal anomalilerin belirlenmesinde yaygın olarak kullanılmaktadır. Çalışmamızda, laboratuvarımızda altı yıl boyunca gerçekleştirilen fetal karyotipleme sonuçlarını değerlendirmek ve kromozomal anormalliklerin sıklığını belirleyerek klinik önemini ortaya koymak amaçlanmaktadır.
Gereç ve Yöntem: Şubat 2013 ve Mart 2019 arasında kromozom analizi ve FISH testi yaptıran ve invaziv prenatal işlem (amniyosentez, kordosentez) endikasyonu olan 661 prenatal numunenin sitogenetik sonuçları incelenmiştir.
Bulgular: Çalışma grubunda toplam 72 (%10,8) anormal fetal karyotip gözlenmiştir. Trizomi 21 en yaygın sayısal aberasyon olup (%29, n = 23), bunu trizomi 18 (%16, n = 13), trizomi 13 (%2,6, n = 2), triploidi (%2,6, n = 2), cinsiyet kromozomu anöploidileri (%5,2, n = 4) ve nadir mozaik otozomal anöploidiler (%2,6, n = 2) izlemiştir. Yapısal anormallikler olarak inversiyonlar (%16, n = 13), kalıtsal translokasyonlar (%7,8, n = 6), dengesiz/de novo translokasyonlar (%6,5, n = 5), delesyonlar (%5,2, n = 4), ilave kromozomlar (%1,3, n = 1), izokromozomlar (%1,3, n = 1) ve derivatif kromozomlar (%1,3, n = 1) tespit edilmiştir. FISH testi yapılan 18 vakanın birinde trizomi 18 ve birinde tetrazomi 12p saptanmıştır.
Sonuç: Sonuçlarımız, fetal karyotiplemenin fetal anomalilerin tanısında ve etkin genetik danışmanlığın sağlanmasında hala etkili ve değerli bir yöntem olduğunu göstermektedir. Ayrıca doğru ve hızlı prenatal genetik tanı için fetal karyotiplemenin tamamlayıcı yöntemler ve ileri teknolojilerle desteklenmesi gerekmektedir.

Keywords

prenatal tanı, amniyosentez, kordosentez, sitogenetik analiz, karyotip, kromozomal anormallik

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