Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be in...

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...

background: thalassemia is the most common monogenic disease in south-east of iran. despite the 70% reduction in iranian thalassemia cases after thalassemia control comprehensive program, 601 affected babies were born in sistan and balouchistan province, iran from 2002 to 2010, so this study aims at investigating the causes of new thalassemia cases. methods: data from this retrospective cross-s...

background: hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. beta thalassemia is one of these disorders with high prevalence in iran, especially in khuzestan province. in this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated. materials and methods: in this experimental pilot study, 316 fetal sampl...

The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis. At present, the prenatal diagnosis of thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (–CTTT) mutation in the globin gene from maternal plasma by real-time PCR. The specificity and sen...

nuchal translucency (nt) measurements in the first trimester screening between 11 and 14 weeks’ gestation are regarded as a clear marker for aneuploidies. the presence of a thickened nt, even if the karyotype is normal, can be associated with structural abnormalities. having an abnormal screening of nt, parents and physicians could face dilemma over abortion particularly in a case of ivf/icsi f...

Background: Chorionic villus sampling(CVS) has a major role in prenatal diagnosis . It is an invasive diagnostic method in completion of primary prenatal screenings. This article is a report of our 8 years experience of CVS in Mashhad. Materials and Methods: We have done 1511 cases of invasive diagnostic procedure including 723 CVS which were included in our study and also 788 cases of amniocen...

A pregnant woman who was a carrier for a balanced chromosome translocation [46,XX, t(1;6) (p31;q14)] and who had had six miscarriages, declined invasive testing but agreed to non-invasive prenatal diagnosis by analysis of fetal cells in maternal blood. Monoclonal antibody (Mab) against the zeta (z) and gamma (gamma) chains of embryonic and fetal haemoglobin were used to identify fetal nucleated...

AIMS An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic te...