Prenatal Cytogenetic Abnormalities and the Correlation of Ultrasonographically Detected Fetal Anomalies

Yıl 2022, Cilt: 44 Sayı: 5, 682 - 688, 29.09.2022

Emine İkbal Atlı Engin Atlı Sinem Yalçıntepe Çisem Mail Selma Demir Hakan Gurkan Gülizar Füsun Varol

https://doi.org/10.20515/otd.1055810

Öz

In this study, 141 amniocentesis, 9 chorionic villus and 5 fetal blood samples, which come with abnormal ultrasonography findings representing 8 years of experience in Trakya University Medical Faculty Hospital, were analyzed cytogenetically. Our aim is to determine the correlation of karyotypic abnormalities detected by ultrasonography for the detection of fetal anomalies in prenatal diagnosis.Karyotypes in metaphases obtained from amniocentesis, chorionic villus and cordocentesis samples were evaluated. For rapid diagnosis, fluorescent in situ hybridization was performed in the interphase nuclei specific to X, Y, 13,18, 21 chromosomes. Chromosome anomalies were found in 23 (14.83%) out of 155 patients referred with abnormal ultrasound findings. NT increase is the most common abnormal fetal ultrasonography finding. Two of the chromosomal anomalies were evaluated as structural chromosome analysis. Anomalies detected in the remaining 21 patients were numerical chromosome anomalies. Of these 21 numerical anomalies, 5 are trisomy 13, 3 are trisomy 18, 13 are trisomy 21. One of the 21 trisomy cases was obtained from cordocentesis material and 1 was obtained from CVS material. Our results present that the relationship between fetal chromosomal anomalies and ultrasonographic findings is significant in a high-risk population, while verifying the validity of selected ultrasonographic markers in detecting aneuploidy in the fetus.

Anahtar Kelimeler

Genetic Diagnosis, Prenatal Diagnosis, Ultrasonography

Prenatal Sitogenetik Anormallikler ve Ultrasonografik olarak Saptanan Fetal Anomalilerin Korelasyonu

Öz

Bu çalışmada, Trakya Üniversitesi Tıp Fakültesi Hastanesi'nde 8 yıllık süreçte anormal ultrasonografi bulguları ile gelen 141 adet amniyosentez, 9 koryon villus ve 5 fetal kan örneği sitogenetik olarak analiz edilmiştir. Amacımız ultrasonografi taramasında anomali riski öngörülen gebeliklerdeki karyotipik anormalliklerin korelasyonunu belirlemekti. Amniyosentez, koryon villus ve kordosentez örnekleri ile yapılan hücre kültürlerinden elde edilen karyotipler değerlendirilmiştir. Ayrıca hızlı tanı için interfaz nukleuslarında X,Y,13, 18,21 kromozomları için floresan insitu hibridizasyon yöntemi ile anöploidi taraması yapılmıştır. Anormal ultrasonagrafi bulgusu ile refere edilen 155 hastadan 23 tanesinde (%14.83) kromozom anomalisi saptanmıştır. NT artışı en sık tespit edilen ultasonografi bulgusuydu. Kromozom anomalilerinden 2 tanesi yapısal kromozom anomalisi olarak değerlendirildi. Geriye kalan 21 hastada saptanan anomaliler sayısal kromozom anomalisiydi. Bu 21 sayısal anomaliden 5 tanesi trizomi 13, 3 tanesi trizomi 18, 13 tanesi trizomi 21’dir. Trizomi 21 vakalarından 1 tanesi kordosentez materyalinden, 1 tanesi ise CVS materyalinden elde edilmiştir. Sonuçlarımız, yüksek riskli bir populasyonda kromozom anomalileriyle, ultrasonografik bulgular arasındaki ilişkinin anlamlı olduğunu ortaya çıkarırken, seçilen ultrasonografik belirteçlerin fetüsteki anöploidiyi saptamadaki geçerliliğini doğrulamaktadır.

Anahtar Kelimeler

USG, prenatal tanı, sitogenetik

Kaynakça

• 1. Hook EB, Topol BB, Cross PK. The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. Am J Hum Genet. 1989;45(6):855-61.
• 2. Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn. 1999;19(2):142-5.
• 3. Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD. Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound Obstet Gynecol. 2003;21(5):467-72.
• 4. Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-11.
• 5. Szabó J, Gellén J, Szemere G. First-trimester ultrasound screening for fetal aneuploidies in women over 35 and under 35 years of age. Ultrasound Obstet Gynecol. 1995;5(3):161-3.
• 6. Timor-Tritsch IE, Bashiri A, Monteagudo A, et al. Qualified and trained sonographers in the US can perform early fetal anatomy scans between 11 and 14 weeks. Am J Obstet Gynecol. 2004;191(4):1247-52.
• 7. Picklesimer AH, Moise KJ Jr, Wolfe HM. The impact of gestational age on the sonographic detection of aneuploidy. Am J Obstet Gynecol. 2005;193(3 Pt 2):1243-7.
• 8. American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med. 2013;32(6):1083-101
• 9. Bricker L, Medley N, Pratt JJ. Routine ultrasound in late pregnancy (after 24 weeks' gestation). Cochrane Database Syst Rev. 2015;2015(6):CD001451
• 10. Smith-Bindman R, Hosmer W, Feldstein VA, et al. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA. 2001;285(8):1044-55.
• 11. Benacerraf BR, Neuberg D, Bromley B, et al. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med. 1992;11(9):449-58.
• 12. Drugan A, Johnson MP, Evans MI. Ultrasound screening for fetal chromosome anomalies. Am J Med Genet. 2000;90(2):98-107.
• 13. Tran LT, Carr DB, Mitsumori LM, et al. Second‐Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21. Journal of Ultrasound in Medicine. 2005;24:805-10.
• 14. Kelly EN, Allen VM, Seaward G, et al. Mild ventriculomegaly in the fetus, natural history, associated findings and outcome of isolated mild ventriculomegaly: a literature review. Prenat Diagn. 2001;21(8):697-700.
• 15. Chudleigh T. Mild pylectasis. Prenat Diagn. 2001;21:936–41.
• 16. Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis. Obstet Gynecol. 2003;101(5Pt1):1009-16.
• 17. Penna L, Bower S. Hyperechogenic bowel in the second trimester fetus: a review. Prenat Diagn. 2000;20(11):909-13. 18. Walkinshaw SA. Fetal choroid plexus cysts: are we there yet? Prenat Diagn. 2000;20(8):657-62.
• 19. Simon-Bouy B, Satre V, Ferec C, et al. The French Collaborative Group et al. Hyperechogenic fetal bowel: a large French Collaborative study of 682 cases. Am J Med Genet. 2003;121A:209–13.
• 20. Nyberg DA, Souter VL, EL-Bastawissi A, et al. Isolated sonographic marker for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med. 2001;20(10):1053–63.
• 21. Biagiotti R, Periti E, Cariati E. Humerus and femur length in fetuses with Down syndrome. Prenat Diagn. 1994;14:429–34.
• 22. Romano PS, Waitzman NJ. Can decision analysis help us decide whether ultrasound screening for fetal anomalies is worth it? Ann N Y Acad Sci. 1998;847:154-72.
• 23. Health Council of the Netherlands. Prenatal Screening: Down’s syndrome, neural tube defects, routine-ultrasonography, The Hague: Health Council of the Netherlands, publication no. 2001/11.
• 24. Hill LM. The sonographic detection of trisomies 13, 18, and 21. Clin Obstet Gynecol. 1996;39(4):831-50.
• 25. Nyberg DA, Souter VL. Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med. 2001;20(6):655-74.
• 26. Sener KT, Durak B, Tanır HM ve ark. Kordosentez Sonuçlarının Değerlendirmesi: 9 Yıllık Deneyim, Türk Jinekoloji ve Obstetrik Derneği Dergisi, 2013;10(3):151- 157
• 27. Erdemoğlu M, Kale A, Akdeniz N. Prenatal Tanı Amacıyla Kordosentez Uygulanan 172 Olgunun Değerlendirilmesi. Dicle Tıp Dergisi. 2007;34(1):7-13
• 28. Dağlar HK, Kaya B, Şahin HO ve ark. Gaziantep İli Doğum Hastanesi’nde Karyotip Analizi Amacı ile Amniyosentez ve Koryon Villus Örneklemesi Yapılan 268 Olgunun Retrospektif Analizi Perinatoloji Dergisi. 2011;19(3):130-136
• 29. Yüce H, Çelik H, Gürateş B ve ark. Karyotip analizi amacıyla genetik amniyosentez uygulanan 356 olgunun retrospektif analizi. Perinatoloji Dergisi 2006;14(2):73-76