%0 Journal Article
%T Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis
%A Monisha Banerjee
%A Deepika Misra
%J ISRN Genetics
%D 2013
%R 10.5402/2013/961293
%X Invasive prenatal diagnosis (PND) holds a multitude of psychological considerations for women, their partners, family and community as a whole. Earlier, the non-invasive screening methods for certain disorders were serum analytes or ultrasound with low sensitivity and high false positivity. The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive PND (NIPD). Presence of fetal cells and cell-free fetal DNA (cffDNA) in the blood of pregnant women has been accepted universally and constant efforts are being made to enrich fetal DNA from maternal blood/plasma. Real-time quantitative polymerase chain reaction (qrt-PCR) has enabled fetal DNA to serve as a marker for chromosomal abnormalities, for example, trisomy 21, preterm labor, and preeclampsia. In India, PND is provided in few centers since invasive methods require trained gynecologists, this limits investigation and therefore NIPD with cffDNA from mother's blood will revolutionize fetal medicine. The present paper deals with the latest developments in procurement of cffDNA, the probable source and enrichment of fetal DNA in maternal plasma, and the current status of its detection methodologies, applications, and its potential to be used as a powerful diagnostic tool. 1. Introduction The frequency of inherited disorders database (FIDD) contains a total of 1580 records, classified into 14 groups of inherited disorders, of which information on 280 conditions comprising of 109 autosomal dominant, 136 autosomal recessive, and 35 X-linked disorders is currently available. There are also 19 groups of less well-defined conditions such as ¡°inherited neuromuscular disorders" or ¡°hemophilias" [1]. The only solution to diagnose such genetic disorder is prenatal diagnosis (PND). PND had its beginning in 1966, when Steele and Breg showed that the chromosome constitution of a fetus could be determined by analysis of cultured cells from amniotic fluid [2]. Later with the advent of molecular techniques, mutation and carrier analysis was performed by obtaining fetal tissue using invasive methods such as chorionic villus sampling (CVS), placental tissue, and amniocentesis [3]. Genetic disease in a family involves a great deal of anxiety such as having an affected child, life-long morbidity, risk of miscarriage, and dilemma of taking the correct decision (Table 1) [4]. Nucleic acids (DNA and RNA) in the blood were observed >60 years ago as early as 1948, when Mandel and Metais reported the presence of cell free DNA (cfDNA) and RNA (cfRNA) in blood plasma of healthy and sick individuals [5¨C7].
%U http://www.hindawi.com/journals/isrn.genetics/2013/961293/