Fetal Nucleic Acids in Maternal Circulation: A Genetic Resource for Noninvasive Prenatal Diagnosis

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. e 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. e 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.

Quantifying Fetal Reprogramming for Biomarker Development in the Era of High-Throughput Sequencing

“…On the other hand, assessment of circulating cell-free fetal RNA (cffRNA) seems to be a reasonable approach, as in theory, it allows assessment of the dynamic nature of fetal reprogramming in a longitudinal manner [34]. The cffRNA is shed from the placenta and the fetal organs into the maternal circulation [48,49]. Therefore, cffRNA may reflect transcriptome changes in the growing fetus when the specimen is collected at various time points as the pregnancy progresses.…”

Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

“…Following certain algorithms im collecting, transporting and storing maternal blood for NIPD avoids cffDNA destruction in samples. Since the ratio of cffDNA to maternal DNA is minute, proper transport and storage of samples is an important factor in reliability of the tests ( 15 ) . Maternal cell lysis due to warm environment releases excess amounts of maternal DNA to serum, which in turn alters NIPD results.…”