Targeted ultrasound examination and DNA testing for Noonan syndrome, in fetuses with increased nuchal translucency and normal karyotype

Prenatal Diagnosis

Volumn 31, Issue 9, 2011, Pages 833-840

  Bakker, M ^a   Pajkrt, E ^b   Mathijssen, I B ^b   Bilardo, C M ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

3D ultrasound; Increased nuchal translucency; Noonan syndrome; RAS MAPK pathway; Targeted DNA diagnostics

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CYSTIC LYMPHANGIOMA; DNA DETERMINATION; ECHOGRAPHY; FEMALE; FETUS; FETUS HYDROPS; FETUS MALFORMATION; FIRST TRIMESTER PREGNANCY; HUMAN; KARYOTYPE; MALE; NOONAN SYNDROME; NUCHAL CORD; NUCHAL TRANSLUCENCY MEASUREMENT; PARENT COUNSELING; PERINATAL PERIOD; PLEURA EFFUSION; POLYHYDRAMINIOS; PRENATAL DIAGNOSIS; PRENATAL PERIOD; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; ULTRASOUND;

ADULT; CRANIOFACIAL ABNORMALITIES; DNA; FEMALE; GESTATIONAL AGE; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPE; LYMPHANGIOMA, CYSTIC; MALE; MUTATION; NOONAN SYNDROME; NUCHAL TRANSLUCENCY MEASUREMENT; POLYHYDRAMNIOS; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; ULTRASONOGRAPHY, PRENATAL;

EID: 80051936031     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2782     Document Type: Article

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