Detection of aneuploidy from single fetal nucleated red blood cells using whole genome sequencing

Author:

Hua Rui12,Barrett Angela N.1,Tan Tuan Zea3,Huang Zhouwei1,Mahyuddin Aniza Puteri1,Ponnusamy Sukumar1,Sandhu Jaspal Singh1,Ho Sherry S. Y.4,Chan Jerry K. Y.56,Chong Samuel7,Quan Song2,Choolani Mahesh1

Affiliation:

1. Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine; National University of Singapore; Singapore S119228

2. Department of Obstetrics and Gynaecology, Nanfang Hospital; Southern Medical University; Guangzhou 510515 China

3. Cancer Science Institute of Singapore; National University of Singapore; Singapore S117599

4. Department of Laboratory Medicine, Molecular Diagnosis Centre; National University Hospital; Singapore S119074

5. Experimental Fetal Medicine Group, Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine; National University of Singapore; Singapore S119228

6. Department of Reproductive Medicine; KK Women's and Children's Hospital; Singapore S229899

7. Department of Paediatrics, Yong Loo Lin School of Medicine, National University Hospital; National University of Singapore; Singapore S119074

Funder

National Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference34 articles.

1. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities;Nicolaides;Am J Obstet Gynecol,2004

2. Update on procedure-related risks for prenatal diagnosis techniques;Tabor;Fetal Diagn Ther,2010

3. Royal College of Obstetricians and Gynaecologists 2010. Amniocentesis and Chorionic Villus Sampling (Green-top 8) http://www.rcog.org.uk/files/rcog-corp/GT8Amniocentesis0111.pdf

4. Amniocentesis and chorionic villus sampling for prenatal diagnosis;Alfirevic;Cochrane Database Syst Rev,2003

5. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies;Boon;Prenat Diagn,2013

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