Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?
نویسندگان
چکیده
Mother Infant Research Institute Tufts Medical Center and the Departments of Pediatrics, Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA Department of Obstetrics, Leiden University Medical Center, The Netherlands Department of Obstetrics and Gynecology, Inova Hospital, Alexandria, VA, USA *Correspondence to: Diana W. Bianchi. E-mail: [email protected] Presented at the 17 International Conference on Prenatal Diagnosis and Therapy, Lisbon, Portugal, on 3 June 2013. All authors contributed equally to this work.
منابع مشابه
Comparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...
متن کاملClinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population.
OBJECTIVE Evaluate noninvasive prenatal testing (NIPT) with cell-free DNA as a screening method for trisomies 21, 18, and 13 in an obstetrical clinical practice setting. METHODS Observational study of pregnant women who underwent prenatal screening for fetal trisomy from 30 July 2012 to 1 December 2012. NIPT was offered to all patients in addition to first trimester combined screening (FTS). ...
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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 ...
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The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...
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ورودعنوان ژورنال:
- Prenatal diagnosis
دوره 34 1 شماره
صفحات -
تاریخ انتشار 2014