Expanding the scope of noninvasive prenatal testing: Detection of fetal microdeletion syndromes

American Journal of Obstetrics and Gynecology

Volumn 212, Issue 3, 2015, Pages 332.e1-332.e9

  Wapner, Ronald J ^a   Babiarz, Joshua E ^b   Levy, Brynn ^a   Stosic, Melissa ^b   Zimmermann, Bernhard ^b   Sigurjonsson, Styrmir ^b   Wayham, Nicholas ^b   Ryan, Allison ^b   Banjevic, Milena ^b   Lacroute, Phil ^b   Hu, Jing ^b   Hall, Megan P ^b   Demko, Zachary ^b   Siddiqui, Asim ^b   Rabinowitz, Matthew ^b   Gross, Susan J ^b   Hill, Matthew ^b   Benn, Peter ^c  

^a Columbia University ^*  (United States)

^b NATERA INC   (United States)

^c UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

microdeletion; noninvasive prenatal testing; singlenucleotide polymorphism

Indexed keywords

ANEUPLOIDY; ARTICLE; CAT CRY SYNDROME; CHROMOSOME 1P; CHROMOSOME DELETION; CHROMOSOME DELETION 1P36; CHROMOSOME DELETION 22Q11; DIGEORGE SYNDROME; FALSE POSITIVE RESULT; FEMALE; HAPPY PUPPET SYNDROME; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; CHROMOSOME DISORDERS; DNA SEQUENCE; EVALUATION STUDY; GENETIC SCREENING; GENETICS; LABORATORY DIAGNOSIS; MATERNAL SERUM SCREENING TEST; MULTIPLEX POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PREGNANCY; PROCEDURES; REPRODUCIBILITY; SYNDROME;

ALGORITHMS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; FALSE POSITIVE REACTIONS; FEMALE; GENETIC TESTING; HUMANS; MATERNAL SERUM SCREENING TESTS; MULTIPLEX POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; PREGNANCY; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84924766673     PISSN: 00029378     EISSN: 10976868     Source Type: Journal    
DOI: 10.1016/j.ajog.2014.11.041     Document Type: Article

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