Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing

Prenatal Diagnosis

Volumn 35, Issue 3, 2015, Pages 258-265

  Xiong, Li ^a,b   Barrett, Angela N ^a   Hua, Rui ^a,b   Tan, Tuan Zea ^c   Ho, Sherry Sze Yee ^d   Chan, Jerry K Y ^a,e   Zhong, Mei ^b   Choolani, Mahesh ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b SOUTHERN MEDICAL UNIVERSITY   (China)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^e KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEMOGLOBIN E; HEMOGLOBIN VARIANT;

ADULT; AMNIOCENTESIS; ARTICLE; BETA THALASSEMIA; CELL FREE SYSTEM; DNA EXTRACTION; DNA LIBRARY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MATERNAL PLASMA; MOLECULAR GENETICS; NEXT GENERATION SEQUENCING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; BETA-THALASSEMIA; BLOOD; DNA SEQUENCE; FETUS; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; METABOLISM; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PROCEDURES; SENSITIVITY AND SPECIFICITY;

BETA-THALASSEMIA; DNA; FEMALE; FETUS; GENOTYPE; HEMOGLOBIN E; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84924194553     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4536     Document Type: Article

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