Abstract
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.
Highlights
E frequency of inherited disorders database (FIDD) contains a total of 1580 records, classi ed 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. ere are 19 groups of less well-de ned conditions such as “inherited neuromuscular disorders” or “hemophilias” [1]. e only solution to diagnose such genetic disorder is prenatal diagnosis (PND)
An attempt has been made to review the developments till date by various groups in obtaining cell-free fetal nucleic acids from maternal blood, its probable source, methods of detection, and applications in non-invasive prenatal diagnosis (NIPD) for a variety of genetic disorders
Analysis of fetal DNA in maternal plasma has been introduced as a new method for NIPD. ere are three possible sources of fetal DNA in maternal circulation: (a) direct transfer of DNA, (b) placenta, and (c) haematopoietic cells
Summary
E frequency of inherited disorders database (FIDD) contains a total of 1580 records, classi ed 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. ere are 19 groups of less well-de ned conditions such as “inherited neuromuscular disorders” or “hemophilias” [1]. e only solution to diagnose such genetic disorder is prenatal diagnosis (PND). An attempt has been made to review the developments till date by various groups in obtaining cell-free fetal nucleic acids (cffNAs) from maternal blood, its probable source, methods of detection, and applications in non-invasive prenatal diagnosis (NIPD) for a variety of genetic disorders. Presence of fetal RNA in the plasma of pregnant women was shown through the mRNA detection of a gene on the Y chromosome [15, 16]. Cell free fetal RNA (cffRNA) was not expected to be present in plasma due to the presence of RNAses It was shown by detection of human placental lactogen (hPL) and ββ-hCG (human chorionic gonadotropin) mRNAs that the placenta was a major source of fetal-derived RNA [18]. F 1: Schematic representation of various pathways by which nucleic acids are released into circulation [14]
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