Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report
Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a cl...
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BACKGROUND Prenatal exposure of mother to valproate (VPA) causes teratogenic effects in the fetus, namely fetal valproate syndrome (FVS). We report a case of fetal valproate syndrome rarely diagnosed by prenatal sonographic examination. CASE PRESENTATION Our patient was a female infant who was born to a 27-year-old nulliparous Japanese woman with epilepsy. The mother was diagnosed with infant...
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Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanopartic...
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متن کاملProgress toward noninvasive prenatal diagnosis.
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2011
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmc1106975