Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening

• Published in: Curēus (Palo Alto, CA) Vol. 14; no. 10; p. e29965
• Main Authors: Raj, Himanshu, Yelne, Pallavi
• Format: Journal Article
• Language: English
• Published: Palo Alto Cureus Inc 05-10-2022; Cureus
• Subjects: Accuracy; Amniocentesis; Amniotic fluid; Babies; Birth defects; Chromosomes; Congenital diseases; Cystic fibrosis; Deoxyribonucleic acid; Disease; DNA; Down syndrome; Females; Fetuses; Gender; Genetics; Infections; Miscarriage; Obstetrics/Gynecology; Phenylketonuria; Pregnancy; Sickle cell anemia; India
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.29965

The cell-free fetal DNA (cffDNA) analysis for screening fetal genetic anomalies has increased dramatically since its commercialization in 2011 worldwide. In the early weeks of pregnancy, it offers a hassle-free, non-invasive procedure of antenatal screening. It guides and protects mothers from undergoing unwanted risk-laden invasive prenatal testing. cffDNA testing is accurate at detecting the abnormal fetus chromosome among a large pool population. Patau syndrome, Edward syndrome, and Down syndrome are currently being accurately screened by this method. Due to their sensitivity and specificity, they now have become the screening method of choice, approaching almost 100% in various studies with a large sample pool. The latest procedures to analyze cffDNA, like the new digital droplet polymerase chain reaction (ddPCR) and sophisticated next-generation sequencing (NGS), have increased detection rates with decreased analyzing time. The latest techniques make it possible to screen large numbers of the population with faster report generation. Screening for Rh incompatibility and its timely prevention is now more accessible and more accurate with the help of cffDNA analysis. The problem arises when we deviate from the primary disease and start testing for anomalies not intended to be screened by cffDNA in the first place. Fetal sex chromosome aneuploidy screening by cffDNA is one area where the test gives mixed results either due to differences in machinery, laboratory parameters, or human error. Other rare occurrences like trisomes, such as trisomy 7, trisomy 16, trisomy 22, and a few microdeletion syndromes are also being screened but with less accuracy. Like every technology, cffDNA analysis is not entirely free of criticism. Its high testing cost, potential to accurately prognosticate the gender of the developing fetus and absence of standard testing practices will become an issue as the test becomes routine worldwide.