Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
نویسندگان
چکیده
منابع مشابه
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 with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonogra...
متن کاملImplementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield
OBJECTIVE Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin. Optimizing conditions for maximizing yield of cell-free fetal DNA will be crucial for effective implementation of testing. We explore factors influencing yie...
متن کاملCell-free fetal DNA and non-invasive prenatal diagnosis.
Currently in the UK, prenatal diagnosis of genetic conditions and Down’s syndrome requires invasive diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). Procedural related miscarriage rates of about 1% have been quoted for these tests which are not usually done before 11 weeks’ gestation. Annually in the UK, 32 000 women have an invasive diagnostic test as a result of oth...
متن کاملNon-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood
Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or a...
متن کاملThanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric ...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2013
ISSN: 0197-3851,1097-0223
DOI: 10.1002/pd.4066