Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?

نویسندگان

  • Diana W Bianchi
  • Dick Oepkes
  • Alessandro Ghidini
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.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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 کامل

Clinical 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). ...

متن کامل

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 کامل

Application 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 کامل

Prenatal diagnostic tests of genetic disorders: review article

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...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Prenatal diagnosis

دوره 34 1  شماره 

صفحات  -

تاریخ انتشار 2014