A new era of non-invasive prenatal genetic diagnosis: exploiting fetal epigenetic differences.
نویسنده
چکیده
1. Papergeorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nature Med 2011: 17: 510–513. 2. Society of Obstetricians and Gynaecologists of Canada. Canadian Guidelines for Prenatal Diagnosis. J Obstet Gynaecol Can 2001: 23: 616–624. 3. Rakyan VK, Down TA, Thorne NP et al. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs). Genome Res 2008: 18: 1518–1529.
منابع مشابه
I-40: Non Invasive Prenatal Genetic Diagnosis;Current Status and The Future
Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% ...
متن کاملO-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Implications for Non-Invasive PrenatalDiagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
متن کاملO-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Diagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
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 کاملPrenatal diagnostic methods
Prenatal Diagnosis is the most reliable way of preventing genetic diseases that has been implicated in many countries and has prevented the birth of newborns with different hereditary, congenital and genetic diseases during the past few years. Prenatal diagnosis is actually the use of various diagnostic methods to check the condition of the fetus during pregnancy, because postnatal genetic diso...
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عنوان ژورنال:
- Clinical genetics
دوره 81 4 شماره
صفحات -
تاریخ انتشار 2012