Acceptance of non-invasive prenatal testing by cell free foetal DNA for foetal aneuploidy in a developing country: experience at a tertiary care centre in India

Namrata Kashyap, Mandakini Pradhan, Piyush Kumar, Neeta Singh


Background: Non-invasive prenatal testing is a new technique which is deepening its root all over the world. Its tremendous potential lies in its ability of using cell free fetal DNA from the plasma of pregnant women. However, to what extent the technology has reached to a common person is also to be given a thought. hence the study was planned to assess the acceptability of non-invasive prenatal testing in Indian settings, to study about the awareness and baseline knowledge about Down’s syndrome, to study the correlation between various indications of prenatal testing for aneuploidy and results of noninvasive prenatal testing.

Methods: Noninvasive cell free fetal NA testing for aneuploidy was an informed patient choice after pre-test counseling. Patients with a positive test result were offered invasive prenatal diagnosis for confirmation of test results.

Results: The diagnostic potential of cell free DNA for fetal aneuploidy matched equally with invasive tests avoiding slight but yet considerable risk of invasive tests. However, we found that, 90 % of patients in a tertiary centre hospital in India were not aware of trisomy 21 and various options available for prenatal screening for aneuploidy.

Conclusions: Newer genomic technology involving cell free maternal DNA is a new storm in prenatal diagnosis. Its application in clinical practice is the need of the hour, however, the lack of awareness, high cost and unavailability of the test in the country appears to be a major limiting factor for its poor acceptability.


Noninvasive prenatal testing (NIPT), Cell free foetal DNA, Aneuploidy, Trisomy 21, Down syndrome

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Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW et al. Presence of foetal DNA in maternal plasma and serum. Lancet. 1997;350:485-7.

ACOG Committee opinion number 545, December 2012. Non-invasive foetal testing for foetal aneuploidy. Obstet Gynecol. 2012;120:1532-4.

Lo YM, Tsui NB, Lau TK, Leung TN, Heung MM, Gerovassili A et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med. 2007;13(2):218-23.

Tong YK, Chiu RW, Akolekar R, Leung TY, Lau TK, Nicolaides KH et al. Epigenetic-genetic chromosome dosage approach for foetal trisomy 21 detection using an autosomal genetic reference marker. PLoS One. 2010;5:e15244 .

Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Foetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med. 2011;17:510-3.

Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of foetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008;105:16266-71.

Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:7401.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V et al. Noninvasive detection of foetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204(3):205.

Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C et al. Selective analysis of cell-free DNA in maternal blood for evaluation of foetal trisomy. Prenat Diagn. 2012;32:3-9.

Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913-20.

Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012;14:296-305.

Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY et al. Noninvasive prenatal diagnosis of foetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE. 2011;6:e21791.

Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide foetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890-901.

Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB et al. Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, cohort study for detection of foetal trisomy 18. Am J Obstetric Gynecology. 2012;207(2):137.

Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-4.