Case Offered Prenatal Diagnosis for Down Syndrome

Introduction:Down syndrome or trisomy 21, is genetic disorder typically associated with physical problems, facial dysmorphism and intellectual disability. Although it increases with maternal age, about 70% of DS are born to women younger than 35 years old. First trimester prenatal screening tests are available to identify high risk pregnancies. Casereport: 32-year-old woman and her husband sought genetic counseling in six-week pregnany. They had history of two abortions We ordered FTS at 12 weeks gestation for DS The combined test results indicated 1/49 likelihood of DS in the fetus. They were informed this is higher than cut-off risk and prenatal diagnosis, amniocentesis, with small risk 1/200 of pregnancy loss was offered. They performed it in 15-week It was revealed trisomy 21 in karyotyping performed on amniotic fluid, so they were referred to Forensic Medicine for termination of pregnancy, due to their decision.• Conclusion:Genetic counseling provides pregnant couples opportunity to discuss the risk of Down syndrome and other chromosome abnormalities and prenatal screening/testing options. Information about Down syndrome will also be provided. Prenatal diagnostic procedures such as amniocentesis or CVS offer the family an opportunity to have chromosome testing done on the fetus to determine if the fetus is affected with Down syndrome. Genetic counselors use non-directive, or client-centered, strategies to help the patient make the best personal decision based on accurate and complete information. This approach would allow the parents to take into account their values and preferences, in making decision regarding prenatal diagnosis, to prepare for the birth of child with Down syndrome or, to terminate an affected pregnancy to avoid having child with chromosome abnormality.

کلیدواژه ها:

Down syndrome ، first trimester screening ، Prenetal diagnosis ، amniocentesis