Currently in the UK, prenatal diagnosis of genetic conditions and Down’s syndrome requires invasive diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). Procedural related miscarriage rates of about 1% have been quoted for these tests which are not usually done before 11 weeks’ gestation. Annually in the UK, 32 000 women have an invasive diagnostic test as a result of oth...

organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...

maternal infection with toxoplasma gondii acquired during pregnancy may result in congenital infection of developing fetuses. up to now, decision on informed therapeutic abortion of fetuses suspected of having t. gondii infection in iran has been made based on serological findings in mothers. this might have led to unnecessary abortion of many uninfected children. we evaluated the polymerase ch...

objective(s):to determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. materials and methods: after collection of 100 chorionic villi samples, the dnas were extracted and baby gender was determined. meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. results...

Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest has been shown worldwide in deciphering the fetal epigenome towards the development of methylation-based non-invasive prenatal tests (NIPT). In this review, we highlight the different approaches imp...

From 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg-positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against H...

NIFTY (Non-invasive Fetal Trisomy Test) is a non-invasive prenatal test which is used for diagnosing fetal trisomy. The test is based on the analysis of cell free fetal DNA (cffDNA) present in the plasma and serum of a pregnant woman. NIFTY allows to detect fetal trisomy of chromosomes 13, 18, 21, X and Y and also X monosomy. Abnormal NIFTY results still need to be verified using other diagnost...

In many farm animal species, the preference of a specific sex is obvious mainly due to commercial implications; so for comprehensive and efficient results in the livestock management plans specially breedingand selection programs, it is necessary to include acost-effective and reliable strategy for early determination of fetal sex. Several invasive and non-invasive approaches have been establis...

Objective: Retrospective evaluation of the results of the chorion villus sampling, amniocentesis, and cordocentesis of 2295 cases performed for prenatal diagnosis. Methods: Between 2001 and 2007 (first 6 months) 54 cases of genetic chorion villus sampling, 2086 cases of genetic amniocentesis and 155 cases of cordocentesis were evaluated according to indications, success of karyotyping and the r...

Down syndrome ([DS] trisomy 21) is the most common cause of intellectual disability worldwide, affects approximately 1:500 pregnancies and is seen in 1:800 to 1:1,000 live births [1]. Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Genetic prenatal diagnosis (PD) for DS, since its introduction in the late 1960s, ...