Genetic assessment following increased nuchal translucency and normal karyotype

Prenatal Diagnosis

Volumn 31, Issue 3, 2011, Pages 307-310

  Pergament, Eugene ^a   Alamillo, Christina ^a   Sak, Katrin ^b   Fiddler, Morris ^c  

^a Northwestern Reproductive Genetics Inc   (United States)

^b Asper Biotech   (Estonia)

^c DEPAUL UNIVERSITY   (United States)

Author keywords

Chorionic villus sampling; Cystic hygroma; Noonan; Nuchal translucency; Prenatal genetic testing; PTPN11

Indexed keywords

ARRAYED PRIMER EXTENSION ASSAY; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DIGEORGE SYNDROME; DNA SEQUENCE; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MICROFLUIDIC ANALYSIS; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PATIENT DECISION MAKING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SPINAL MUSCULAR ATROPHY;

ADRENAL HYPERPLASIA, CONGENITAL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HUMANS; KARYOTYPING; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MUSCULAR ATROPHY, SPINAL; NECK; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; SOS1 PROTEIN;

EID: 79952228519     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2718     Document Type: Article

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