Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does...

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BACKGROUND Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias ...

background: free fetal dna (ffd) in maternal plasma/serum has increasingly become the source of fetal material for diagnostic purposes in recent years. this source of fetal material can be used for sex determination. rh typing paternally inherited sequences and compound heterozygosity. reports on the lack of consistent pcr amplification of y-chromosome sequences of ffd in maternal plasma/serum ...

objective: to review the current situation regarding prenatal diagnosis (pnd) in islamic countries. methods: a descriptive study (narrative review) has been done based on the available data in formal international and national published documents in 2013. the sources were papers, websites and electronic books. time limitation of searches has started 20 years ago. the main languages were english...

Trisomy X is a sex chromosomal abnormality with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1000 female births. There is considerable variation in the phenotype, from asymptomatic and very mildly affected to significant physical and psychological f...

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages sound clinical practice, and high-quality teaching and research related to diagnostic imaging in women’s healthcare. The ISUOG Clinical Standards Committee (CSC) has a remit to develop Practice Guidelines and Consensus Statements that provide healthcare practitioners with a ...