Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

Prenatal Diagnosis

Volumn 35, Issue 10, 2015, Pages 986-989

  Flowers, Nicola ^a   Kelley, Joanne ^b   Sigurjonsson, Styrmir ^c   Bruno, Damien L ^a   Pertile, Mark D ^a,d  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b MERCY HOSPITAL FOR WOMEN   (Australia)

^c NATERA INC   (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MATERNAL MOSAICISM; MOSAICISM; NONINVASIVE PRENATAL TESTING; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 18; CHROMOSOME DUPLICATION; MATERNAL SERUM SCREENING TEST; PREGNANCY;

ADULT; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; MATERNAL SERUM SCREENING TESTS; MOSAICISM; PREGNANCY;

EID: 84943366710     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4636     Document Type: Article

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