Downs syndrome and its screening: how aware are we?

Murli Krishna Nambiar, Roopa P. S., Nisha C., Pratap Kumar


Background: Down syndrome (DS) is the most common chromosomal abnormality found in live-born babies. The objectives of this study were to assess the knowledge, attitude and practices of pregnant women regarding Down syndrome and its screening.

Methods: This was a prospective study done in the Department of Obstetrics and Gynecology, in a tertiary care hospital. All pregnant ladies who attended the antenatal clinic and consented for the study were included. A prevalidated questionnaire was given to these women and data was collected. Responses to pregnant women’s knowledge, attitudes and practices were evaluated in a three-point scale of yes/no/ don’t know. All correct answers or all but one correct answer was scored good and the percentage was calculated.

Results: A total of 267 pregnant women were included in the study. Of the 267 women only 156 (58.4%) had heard about Down syndrome. Eighty five percent of the women unanimously agreed that Down syndrome babies had mental impairment. But only 21.1% patients had good knowledge score on Down syndrome. Eleven percent had good knowledge regarding Down syndrome screening tests. Almost sixty five percent of the women had the right attitude towards screening tests and 46.1% patients had followed good practice.

Conclusions: Informed decision making rather than imposed decision making must be practiced. Compulsory and effective education regarding Down syndrome and its screening must be provided to all patients at the earliest antenatal visit. The gap between women’s knowledge, theirs attitudes and practice has to be addressed to. Non-invasive prenatal testing might be the future and is quickly bring about a shift in the paradigm in prenatal screening.


Awareness, Downs syndrome screening, Knowledge attitude practices in Down syndrome screening

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Ostermaier KK. Down syndrome: Clinical features and diagnosis. In: Rose BD, ed. UpToDate. Welleseley, MA: UpToDate; 2010.

National Down syndrome society. Available at

Bull MJ. Committee on genetics. Health supervision in children with Down syndrome. Pediatr. 2011;128:393.

Driscoll DA, Gross SJ. Professional practice guidelines committee. Screening for fetal aneuploidy and neural tube defects. Genet Med. 2009;11(11):818-21.

Malone F, Canick JA, Ball RH. First trimester or second-trimester screening or both for Down’s syndrome. First and Second-Trimester Evaluation of Risk (FASTER) research consortium. N Engl J Med. 2005;353(19):2001-11.

Hyett J. Noninvasive prenatal testing for Down syndrome. Aust Prescr. 2014;37:51-5.

ACOG Committee on Practice Bulletins. Screening for fetal chromosomal abnormalities, ACOG practice Bulletin No 77. Obstet Gynecol. 2007;217:109-202.

Shin M, Besser LM, Kucik JE, Lu C, Siffel C, Correa A. Congenital anomaly multistate prevalence and survival collaborative. Prevalence of Down syndrome among children and adolescents in 10 regions of the United States. Pediatr. 2009;124(6):1565-71.

Government of India. Department of Family Welfare. MTP act 1971. Available at

Down syndrome federation of India. Available at

Presson AP, Partyka G, Jensen KM, Devine OJ, Rasmussen SA, McCabe LL, et al. Current estimate of Down syndrome population prevalence in the United States. J Pediatr. 2013;163(4):1163-8.

Baxi A, Kaushal M. Awareness and Acceptability in Indian women of triple test screening for Down’s syndrome. Internet J Gynecol Obstet. 2007;9(2).

Shalaby HAR, Elhady RA, Gamal AM, Badry AA. Prenatal diagnosis in low resource setting: Is it acceptable? J Obstet Gynecol India. 2012;62(5):515-9.

Belahcen A, Taloubi M, Chala S, Izgua AT, Alaoui AM. Mother’s awareness and attitudes towards prenatal screening for Down syndrome in Muslim Moroccans. Prenatal Diagnosis. 2014;34:821-30.

Pruksanusak N1, Suwanrath C, Kor-Anantakul O, Prasartwanakit V, Leetanaporn R, Suntharasaj T, Hanprasertpong T. A survey of the knowledge and attitudes of pregnant Thai women towards Down syndrome screening. J Obstet Gynaecol Res. 2009 Oct; 35(5):876-81.

Gidiri M, Holding S, Lindow SW. Reduction in Down's syndrome screening acceptance is predominantly observed in women aged 25-35 years. Womens Health (Lond Engl). 2010;6(4):525-9.

Dahl K, Hvidman L, Jorgensen FS, Henriques C, Olesen F, Kjaergaard H, et al. First trimester Down syndrome screeening: pregnanct womens knowledge. Ultrasound Obstet Gynecol. 2011;38(2):145-51.

Allyse M, Minear AM, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Women’s Health. 2015;7:113-26.