20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
| Autor: | Erhan Pariltay, Sözen Türk T, Hilmi Bolat, Sermet Sagol, Emin Karaca, Mert Kazandi, Aslı Ece Solmaz, Fuat Akercan, Ozgur Cogulu, Burak Durmaz, Z. Cengisiz, Ayca Aykut, Asude Durmaz, Haluk Akin, Feriştah Özkinay |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
chromosome abnormalities Cytogenetic Findings Referral Turkey Universities Genetic counseling Genetics Medical Prenatal diagnosis Logistic regression Article Fetal Chromosomal-Abnormalities Pregnancy medicine Humans Women Advanced maternal age Retrospective Studies Genetics Chromosome Aberrations genetic counseling medicine.diagnostic_test business.industry General Medicine Middle Aged medicine.disease Aneuploidy Amniocentesis Female Down Syndrome Trisomy business Maternal Age |
| Zdroj: | Turkish Journal of Medical Sciences |
| Popis: | Background/aim Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The aim of this study is to evaluate the demographic data, indications and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. Materials and methods The records of 8363 amniocentesis, 626 chorionic villus and 308 cordocentesis samples were retrospectively evaluated and analyzed in regard to referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analysis were performed in order to give the statistical likelihood of different events. Results The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21-25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36-40, 5 times higher in 41-45 and 10-fold in 46-50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant. Conclusion These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies. |
| Databáze: | OpenAIRE |
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