Noninvasive screening tools for Down syndrome: a review
نویسندگان
چکیده
Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available noninvasive diagnostic techniques for the detection of Down syndrome. By understanding fully each technology and the possible alternatives, the physician will be able to provide their patients with all the information necessary to make an informed decision regarding their medical management.
منابع مشابه
Down Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...
متن کاملApplication of Molecular DNA Markers (STRs) in Molecular Diagnosis of Down Syndrome in Iran
Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the collection of the samples. This is the first study has been performed in Iranian population to assess the diagnostic value of using small tandem repe...
متن کاملRELATIONSHIP BETWEEN THE SERUM LEVELS OF FOLIC ACID WITH THE RESULTS OF FIRST TRIMESTER DOWN SYNDROME SCREENING METHODS AND FETAL KARYOTYPE IN HIGH RISK PREGNANT WOMEN REFERRING TO THE ALZAHRA EDUCATIONAL HOSPITAL OF TABRIZ
Background & Aims: To investigate associations between serum levels of folic acid with the results of the first trimester Down syndrome screening methods and fetal karyotype in high-risk pregnant women. Materials & Methods: In this cross-sectional study, serum levels of folic acid in 232 high risk pregnant women were measured using ELISA method and Down syndrome screening was done using karyot...
متن کاملDown Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...
متن کاملStatistical study of 45 false negative cases of Down syndrome in the first trimester screening protocol during 2015-2016 and introduction of a new criterion (Ratio> 3.0 of free BhCG MoM/PAPP-A MoM) to increase the efficacy of first trimester screenin
Introduction: Down syndrome screening has become an important part of antenatal care and is performed for pregnant women worldwide. In this study, 45 statistically accurate cases of false negatives in the first trimester screening tests have been examined statistically, so that by paying attention to some criteria, we can find out how many of these cases can be detected and how much each criter...
متن کامل