Fertility in a male with trisomy 21.

P-226: Non-Invasive Prenatal Screening for Fetal Chromosomal Anomalies in South of Iran

Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...

Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21.

BACKGROUND The recent discovery of the presence of circulating cell-free fetal DNA in maternal plasma opens up new prenatal diagnostic applications and provides new avenues for clinical investigation. It is of research and potential diagnostic interest to determine whether fetal trisomy 21 may be associated with quantitative abnormalities of circulating fetal DNA in maternal plasma. METHODS M...

Sonographic Findings in Partial Type of Trisomy 18

O-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...

Investigation of factors associated with paternal nondisjunction of chromosome 21.

Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live-births with paternally derived tri...