Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, ge...

Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally...

When somatic cells in the human body undergo apoptosis or necrosis, released DNA enters bloodstream. This type of is called cell-free (cfDNA). In patients with cancer, from tumor circulating (ctDNA), which carries genetic alterations specific to cells. recent years, ctDNA has attracted particular attention terms concept liquid biopsy cancer care. Conventionally, tissue required for definitive d...

F etal cells are consistently found in the maternal circulation, and polymerase chain reaction based studies have led to the identification of cell free fetal DNA (fetal DNA) in maternal blood. Approximately 1.2 nucleated fetal cells/ml of whole blood from women carrying a male fetus were detectable, and relative enrichment of fetal DNA was detected in the maternal plasma and serum. The amount ...

F etal cells are consistently found in the maternal circulation, and polymerase chain reaction based studies have led to the identification of cell free fetal DNA (fetal DNA) in maternal blood. Approximately 1.2 nucleated fetal cells/ml of whole blood from women carrying a male fetus were detectable, and relative enrichment of fetal DNA was detected in the maternal plasma and serum. The amount ...

OBJECTIVE Among the pitfalls of using cell-free fetal DNA in plasma for prenatal diagnosis is quality of the recovered DNA fragments and concomitant presence of maternal DNA (>95%). Our objective is to provide alternative methods for achieving enrichment and high-quality fetal DNA from plasma. METHODS Cell-free DNA from 31 pregnant women and 18 controls (10 males and 8 females) were size sepa...

1. Hahn S, Holzgreve W. Prenatal diagnosis using fetal cells and cell-free fetal DNA in maternal blood: what is currently feasible? Clin Obstet Gynecol 2002;45:649–56. 2. Chiu RW, Lo YM. The biology and diagnostic applications of fetal DNA and RNA in maternal plasma. Curr Top Dev Biol 2004;61:81–111. 3. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal ...

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...

İnsan vücudunda bir veya birden çok sistemin geri dönüşümsüz fonksiyon kaybı sonucunda ortaya çıkan ve yaşam boyu tedavi gerektiren kronik hastalıkların prevalansı dünyada giderek artmaktadır. İntrauterin ortamdaki fetüs sürekli gelişim halindedir. Fetüsün deoksiribonükleik asit (DNA) diziliminin fetal dö-nemde maruz kalınan maternal faktörlere çeşitli çevresel stresörlere bağlı olarak yeniden ...