Prenatal exome sequencing in anomalous fetuses: New opportunities and challenges

Genetics in Medicine

Volumn 19, Issue 11, 2017, Pages 1207-1216

  Vora, Neeta L ^a   Powell, Bradford ^a   Brandt, Alicia ^a   Strande, Natasha ^a,b   Hardisty, Emily ^a   Gilmore, Kelly ^a   Foreman, Ann Katherine M ^a,b   Wilhelmsen, Kirk ^a   Bizon, Chris ^a   Reilly, Jason ^a   Owen, Phil ^a   Powell, Cynthia M ^a   Skinner, Debra ^b   Rini, Christine ^c   Lyerly, Anne D ^a   Boggess, Kim A ^a   Weck, Karen ^a,b   Berg, Jonathan S ^a   Evans, James P ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c The University of North Carolina at Chapel Hill   (United States)

Author keywords

counselling; diagnosis; ethics; exome; prenatal

Indexed keywords

DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD; CLINICAL ARTICLE; COL1A1 GENE; COUNSELING; DIAGNOSTIC VALUE; DYNC2H1 GENE; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; GENE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; KARYOTYPE; KCTD1 GENE; MAP4K4 GENE; MICROARRAY ANALYSIS; MUSK GENE; NONSENSE MUTATION; PARENT; PIEZO1 GENE; PRENATAL DIAGNOSIS; RTTN GENE; TMEM67 GENE; WHOLE EXOME SEQUENCING; DIAGNOSTIC IMAGING; DNA SEQUENCE; EVALUATION STUDY; EXOME; FATHER; FETUS DEVELOPMENT; FETUS DISEASE; GENETICS; MALE; MOTHER; PREGNANCY; PREGNANCY COMPLICATION; PROCEDURES; PROSPECTIVE STUDY; PROTEIN MICROARRAY; RETROSPECTIVE STUDY; SOCIOECONOMICS;

ADULT; EXOME; FATHERS; FEMALE; FETAL DEVELOPMENT; FETAL DISEASES; FETUS; HUMANS; KARYOTYPE; MALE; MOTHERS; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; PROTEIN ARRAY ANALYSIS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SOCIOECONOMIC FACTORS; ULTRASONOGRAPHY, PRENATAL;

EID: 85032436144     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.33     Document Type: Article

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