Bayesian-based noninvasive prenatal diagnosis of single-gene disorders
نویسندگان
چکیده
منابع مشابه
Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies.
Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated approximately 30 years of experience. Disadvantages with conventional PND include 'invasive' fetal sampling and the need to terminate affected ongoing pregnancie...
متن کاملHypermethylation of IGSF4 gene for noninvasive prenatal diagnosis of thalassemia
BACKGROUND For patients with pregnancy-induced thalassemia, fetal cord blood or amniotic fluid is invasively collected in the traditional diagnosis and prediction of thalassemia. However, there is no specific molecular target in the diagnosis of thalassemia using fetal DNA from the plasma of pregnant women. MATERIAL/METHODS The promoter of cell surface adhesion molecule (IGSF4) gene was found...
متن کاملRefining noninvasive prenatal diagnosis with single-molecule next-generation sequencing.
The gradual elimination of risky procedures used to sample fetal material for prenatal diagnosis has been an important objective in medicine. It is often stated that more fetuses are lost due to such invasive procedures (amniocentesis and chorionic villus sampling) than are identified as carrying a chromosomal abnormality. Noninvasive prenatal diagnosis (NIPD) has developed substantially since ...
متن کاملProgress toward noninvasive prenatal diagnosis.
For decades, noninvasive analysis of the fetal genotype has been the holy grail of the field of prenatal diagnosis. Noninvasive prenatal diagnosis (NIPD) would use a sample source other than amniocentesis or chorionic villus sampling. The focus has been primarily on the use of maternal blood samples, with less attention given to the possibility of recovering fetal cells from maternal cervical s...
متن کاملAdvantages of the single nucleotide polymorphism- based noninvasive prenatal test
the placenta into the maternal circulation as the cells break down (apoptosis) and the DNA becomes fragmented [4,5]. Circulating fetal cfDNA comprises approximately 3-13% of the total maternal cfDNA. These DNA fragments can be detected as early as 4 weeks of gestation and are generally cleared out within 2 hours after childbirth [6-8]. A noninvasive prenatal test (NIPT) using cfDNA has proven t...
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ژورنال
عنوان ژورنال: Genome Research
سال: 2019
ISSN: 1088-9051,1549-5469
DOI: 10.1101/gr.235796.118