The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently intr...

Objective: To provide family practitioners, obstetricians, and geneticists with guidelines and recommendations for prenatal diagnosis. Options: These guidelines apply to non-invasive screening techniques (including maternal serum screening and ultrasound) and to invasive techniques (including amniocentesis and chorionic villus sampling). Outcomes: Improved prenatal diagnosis of congenital abnor...

The widespread use of fetal cell-free DNA (cfDNA)-based techniques to screen for trisomy 21 and other aneuploidies has expanded greatly the range of prenatal tests available over the last few years. cfDNA tests are being incorporated rapidly into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although cfDNA techniques are highly efficient, th...

The article is devoted to the methodology of prenatal gender selection and ethical aspects its implementation. Based on analysis scientific publications, principal techniques determine sex in pre-implantation period, embryo fetus, are presented. Invasive non-invasive procedures diagnosis descreibed. include examination fetus by chorionic villus sampling karyotyping cells obtained amniocentesis....

Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive v...

background: fetal dna in maternal plasma and serum has been shown to be a useful material for prenatal fetal sex determination during early gestational ages. non-invasive prenatal diagnosis is now possible at 8th week of pregnancy, by maternal blood sample testing. objective: the purpose of this study was to evaluate two dna extraction methods from mother plasma and its routine clinical applica...