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...

Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...

Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we des cribe the technique of the procedure, its indications and contra indications and the requirements concerning adequate training and optimum clinical practi...

nowadays, new advances in the use of cell free fetal dna (cffdna) in maternal plasma of pregnant women has provided the possibility of applying cffdna in prenatal diagnosis as a non-invasive method. in contrary to the risks of invasive methods that affect both mother and fetus, applying cffdna is proven to be highly effective with lower risk. one of the applications of prenatal diagnosis is fet...

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22.   pls see pdf.

conclusions at present, no single diagnostic procedure is able to cause damage to the embryo or fetus. there are possible harmful effects for doses above 0.2 - 0.25 gy (20-25 rad). context many women of reproductive age and pregnant women require diagnostic tests involving ionizing radiation. fetal exposure to radiation worries both the patient and the obstetricians and could lead to inappropri...

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...