Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

Prenatal Diagnosis

Volumn 33, Issue 5, 2013, Pages 416-423

  Chitty, Lyn S ^a,b   Khalil, Asma ^b   Barrett, Angela N ^c   Pajkrt, Eva ^d   Griffin, David R ^e   Cole, Tim J ^f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e WEST HERTFORDSHIRE HOSPITALS NHS TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE FETAL DNA; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; UNCLASSIFIED DRUG;

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; BRAIN VENTRICLE DILATATION; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; DNA EXTRACTION; FEMUR; FETUS; FETUS ECHOGRAPHY; FETUS GROWTH; FETUS SIZE; FRONTAL BOSSING; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HYDRAMNIOS; MACROCEPHALY; MATERNAL BLOOD; MEDICAL RECORD REVIEW; MOLECULAR DIAGNOSIS; PARAMETERS CONCERNING THE FETUS, NEWBORN AND PREGNANCY; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION SITE; THANATOPHORIC DWARFISM;

ADULT; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FEMUR; FETUS; GESTATIONAL AGE; GROWTH CHARTS; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; THANATOPHORIC DYSPLASIA; ULTRASONOGRAPHY, PRENATAL;

EID: 84877625937     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4066     Document Type: Article

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