نتایج جستجو برای: prenatal test

تعداد نتایج: 845623  

2016
Michael Parks Samantha Court Siobhan Cleary Samuel Clokie Julie Hewitt Denise Williams Trevor Cole Fiona MacDonald Mike Griffiths Stephanie Allen

OBJECTIVE Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. METHOD Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dy...

Journal: :Journal of Postgraduate Medicine, Education and Research 2017

Journal: :international journal of molecular and cellular medicine 0
mohammad kazemi department of genetics and molecular biology, school of medicine, isfahan university of medical sciences, isfahan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (isfahan university of medical sciences)سازمان های دیگر: pediatric inherited diseases research center, re search institute for primordial prevention of non- pediatric inherited diseases research center, re search institute for primordial prevention of non-communicable disease, isfahan university of medical sciences, isfahan, iran. mansoor salehi medical genetic center of genome, isfahan, iran.سازمان های دیگر: pediatric inherited diseases research center, re

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 ...

Journal: :Prenatal diagnosis 2015
Saskia Tamminga Rachèl V van Schendel Wieke Rommers Caterina M Bilardo Eva Pajkrt Wybo J Dondorp Merel van Maarle Martina C Cornel Lidewij Henneman

OBJECTIVE The aim of this study was to investigate health professionals' opinions toward offering noninvasive prenatal testing (NIPT) as first-tier screening test regardless of pregnant women's risk, and toward a potential broader range of disorders. METHODS A questionnaire completed by obstetric health professionals (n = 240) after an in-service NIPT training in the West and North of the Net...

2017
Ruiling Bao Shan Wang Qingfeng Yang

Hemolytic disease of newborn (HDN) is caused by the emergence of inappropriate antibodies against fetal blood antigens, which includes ABO and Rh blood group incompatibility. This study investigated the association between prenatal blood group antibody titer and HDN to provide a theoretic basis for clinical practice. ABO and Rh blood group of 7894 pregnant women and their husbands were screened...

Journal: :Swiss medical weekly 2014
Gwendolin Manegold-Brauer Anjeung Kang Bellin Sinuhe Hahn Christian De Geyter Johanna Buechel Irene Hoesli Olav Lapaire

QUESTIONS UNDER STUDY Prenatal care has been significantly influenced by the introduction of non-invasive prenatal testing (NIPT) for aneuploidies in 2012. The aim of this study was to describe the current impact of NIPT on prenatal care. METHODS We performed a retrospective data analysis including all women with singleton pregnancies who presented for first trimester screening (FTS) between ...

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