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

OBJECTIVE: To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS: Fetuses...

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Detalles Bibliográficos
Autores principales: Chitty, Lyn S, Khalil, Asma, Barrett, Angela N, Pajkrt, Eva, Griffin, David R, Cole, Tim J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166694/
https://www.ncbi.nlm.nih.gov/pubmed/23408600
http://dx.doi.org/10.1002/pd.4066