Down Syndrome Screening in India: Are We There Yet?
Down syndrome is the most common cause of intellectual disability among live born children and is amenable to prenatal detection. Screening for Down syndrome on a population basis requires a thorough understanding of the principles involved in the screening tests. We discuss the rationale behind the commonly available screening tests and the Indian scenario in this setting.
KeywordsDown syndrome Prenatal screening Combined screening test Quadruple screening test Indian scenario
Compliance with Ethical Standards
Conflict of interest
SS is Honorary Clinical Director of PerkinElmer Laboratory, Chennai. KM declares that he has no conflict of interest.
Human and Animals Rights
The authors declare that no human research participants or animals were involved in composing this invited review article.
The authors declare that informed consent was not required for this invited review article as no human research participants were involved.
- 1.Wilson JMG, Gunnar J. Principles and practice of screening for disease [Internet]. World Health Organisation. 1968 [cited 2017 May 31]. http://apps.who.int/iris/bitstream/10665/37650/17/WHO_PHP_34.pdf.
- 3.On the antiquity of trisomy 21: moving towards a quantitative diagnosis of down syndrome in historic material culture [Internet]. [cited 2017 Feb 21]. http://connection.ebscohost.com/c/articles/70399984/antiquity-trisomy-21-moving-towards-quantitative-diagnosis-down-syndrome-historic-material-culture.
- 7.Nicolaides K. Fetal medicine [Internet]. Abu Dhabi first international conference in fetal medicine, pediatrics, pediatric gastroenterology, hepatology and nutrition. 2015 [cited 2017 Mar 22]; Abu Dhabi. https://www.youtube.com/watch?time_continue=2&v=t8CKcModb58.
- 14.Rutter S. Down’s syndrome | intellectual disability and health [Internet]. [cited 2017 May 28]. http://www.intellectualdisability.info/diagnosis/articles/downs-syndrome.
- 22.Khalil A, Pandya P. Screening for Down syndrome. J Obstet Gynaecol India. 2006;56(3):205–11.Google Scholar
- 25.Modi UJ, Nayak U, Aiyer S, Bharani S, Master DC, Shah T, et al. Study of malformations and Down syndrome in India (SOMDI): Baroda region. Httpwwwijhgcomarticleaspissn0971-6866year1998volume4issue1spage93epage98aulastModitype2 [Internet]. 1998 [cited 2017 Jun 5]. http://imsear.hellis.org/handle/123456789/159843.
- 26.Bharucha BA. Study of malformations and Down syndrome in India (SOMDI): Bombay region. Httpwwwijhgcomarticleaspissn0971-6866year1998volume4issue1spage88epage92aulastBharuchatype2 [Internet]. 1998 [cited 2017 Jun 6]. http://imsear.hellis.org/handle/123456789/159842.
- 27.Verma IC, Anand NK, Kabra M, et al. Study of malformations and Down syndrome in India (SOMDI): Delhi region. Indian J Hum Genet. 1998;4(1):84–7.Google Scholar
- 31.Isaac GS, Krishnamurty PS, Reddy YR, et al. Down’s syndrome in Hyderabad, India. Acta Anthropog. 1985;9(4):256–60.Google Scholar