The Role of Chromosome Analysis in Patients with Recurrent Pregnancy Loss

Year 2021, Volume: 5 Issue: 1, 8 - 12, 20.04.2021

Burhan Balta , Murat Erdoğan , Aslıhan Kiraz , Zeki Yılmaz

https://doi.org/10.46332/aemj.821259

Abstract

Purpose: Recurrent pregnancy loss (RPL) is called as loss of two or more clinically defined pregnancies. The causes of RPL include chromosomal abnormalities, endocrinological disorders, autoimmune problems, uterine anomalies, and thrombophilic factors. In this study, we aimed to discuss the results of chromosomal analysis of couples who had experienced RPL in central Anatolia and their relationship with RPL.

Materials and Methods: A total of 1420 subjects, 721 females and 699 males with two or more RPL, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes. All chromosomes were examined for numerical and structural chromosomal abnormalities.

Results: Normal chromosome formation,46, XX in 698 people and 46, XY in 680 people, was detected in a total of 1378 people (97%). Normal chromosome variant was detected in 15 patients (1%), most commonly 46,XX,9qh+ (0.28%) in 4 patients and 46,XY,9qh+ (0.21%) in 3 patients. In addition, 12 patients had balance reciprocal translocation (0.8%), 6 patients had robertsonian translocation (0.4%), 45,XX,rob (13;14) (q10;q10) in 4 patients, and 45,XY,rob(13;14)(q10;q10) in 2 patients.

Conclusion: In this study, chromosomal translocations were the most important cause of RPL in the chromosomal analysis of the parents (n=18; 1.2%). Approximately 2% of individuals with RPL have numerical and structural chromosomal abnormalities such as reciprocal or robertsonian translocations, inversions, and sex chromosomal abnormalities. In order to have healthy babies,
preimplantation genetic diagnostic tests should be recommended to the patients by obstetricians, medical geneticists and clinical embryologists who are involved in reproductive medicine.

Keywords

chromosome analysis, preimplantation genetic testing, reciprocal, recurrent pregnancy loss, translocation

Thanks

We thank all the patients who participated in the study. In addition, we thank laboratory technician Mustafa Kaplan for his contributions to the documentation of patient files.

Tekrarlayan Gebelik Kayıplı Hastalarda Kromozom Analizinin Yeri

Abstract

Amaç: İki ya da daha fazla klinik olarak tanımlanmış gebeliğin kaybına tekrarlayan gebelik kaybı (TGK) denir. TGK nedenleri arasında kromozom anomalileri; endokrinolojik hastalıklar; otoimmun problemler; uterin anomaliler, trombofilik faktörler yer alır. Biz bu çalışmada orta anadoluda TGK yaşamış çiftlerin kromozom analizi sonuçları ve bunların TGK ile ilişkisini tartışmayı amaçladık.

Araçlar ve Yöntem: İki ve üzerinde düşük yapmış 721 kadın ve 699 eşi erkek toplam 1420 kişi çalışmaya dahil edildi. Kromozom analizi periferal kan lenfositleri kullanılarak standart sitogenetik Giemsa- Tripsin-Giemsa (GTG) bantlama tekniği kullanılarak yapıldı. Hastaların tüm kromozomları sayısal ve yapısal kromozom anomalileri açısından incelendi.

Bulgular: 698 kişide 46,XX, 680 kişide 46,XY olmak üzere toplam 1378 kişide normal kromozom kuruluşu tespit edildi (%97). 15 hastada normal kromozom varyantı tespit edildi (%1). Bunun yanında 12 hastada dengeli resiprokal translokasyon (%0,8), 6 hastada ise robertsoniyan translokasyon tespit edildi(%0,4), 1 hastada 3.kromozomda inversiyon tespit edildi(%0.07). Normal kromozom varyantlarını normal kabul edersek geri kalan değişimlerin hasta popülasyonunda sıklığı yaklaşık %2 ‘dir.

Sonuç: Bizim çalışmamızda TGK’ nın ebeveynlerin kromozom analizinden kaynaklanan en önemli sebebi kromozomal translokasyonlardı 18(%1,2). Bu oran literatürdeki değer çalışmalarla uyumlu idi. En sık tespit edilen translokasyon ise 6 (%0,4) kez saptanan 13 ve 14. Kromozom arasındaki robertsoniyan translokasyon idi. TGK yaşayan bireylerin yaklaşık %2 ‘sinde resiprokal ya da robertsoniyan translokasyonlar, inversiyonlar, cinsiyet kromozom anomalileri gibi sayısal ve yapısal kromozom anomalileri görülmektedir. Bu hastaların sağlıklı bebek sahibi olmaları için preimplantasyon genetik tanı testleri üreme tıbbı ile uğraşan kadın doğum uzmanı, tıbbı genetik uzmanları ve klinik embriyologlar tarafından hastalara önerilmelidir.

Keywords

kromozom analizi, preimplantasyon genetik tanı, resiprokal, tekrarlayan gebelik kaybı, translokasyon

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