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

ABSTRACT 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 F...

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Veröffentlicht in:	Prenatal diagnosis 2013-05, Vol.33 (5), p.416-423
Hauptverfasser:	Chitty, Lyn S., Khalil, Asma, Barrett, Angela N., Pajkrt, Eva, Griffin, David R., Cole, Tim J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Achondroplasia Adult DNA - analysis DNA - blood DNA - metabolism DNA Mutational Analysis Female Femur - embryology Fetus - embryology Fetus - metabolism Gestational Age Growth Charts Humans Original Pregnancy Prenatal Diagnosis - adverse effects Prenatal Diagnosis - methods Receptor, Fibroblast Growth Factor, Type 3 - genetics Retrospective Studies Sensitivity and Specificity Thanatophoric Dysplasia - blood Thanatophoric Dysplasia - diagnosis Thanatophoric Dysplasia - diagnostic imaging Ultrasonography, Prenatal
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