Non Invasive Prenatal Testing- Indian Scenario

Mala Srivasatava*¹ and Ankita Srivastava²

Received: February 21, 2018;   Published: February 28, 2018

DOI: 10.26717/BJSTR.2018.02.000807

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Abstract

Intellectual disability (ID) affects about 3 % of the general population. Chromosomal and genetic disorders account for 30- 40 % of moderate to severe IDs, of which, Down syndrome is the commonest. Attempts to detect and prevent the birth of such affected children were initiated in the ‘80s but were initially limited to women in the advance maternal age. Current recommendations by the American College of Obstetrics and Gynecologists (ACOG) Committee, are that everywoman, regardless of maternal age, should be offered prenatal assessment for aneuploidy either by screening or invasive prenatal diagnosis [1]. The incidence of Down syndrome is 1:800, so approximately 32,000 babies with Down syndrome are born every year in India (the birth rate of India is 25.6 million births annually). Though screening facilities are available in most of the cities, expertise in invasive testing is limited, thus affecting the overall utility of screening. Current screening tests have a detection rate of 95 % with a false positive rate of 5 %, when maternal age, fetal nuchal translucency (NT), nasal bone, and maternal serum markers like beta human chorionic gonadotropin (b-hCG) and pregnancy associated plasma protein A (PAPP-A) are combined together [2].

Abbreviations: ID: Intellectual Disability; ACOG: American College of Obstetrics and Gynecologists; NT: Fetal Nuchal Translucency; PAPP-A: Pregnancy Associated Plasma Protein-A; NIPT: Non Invasive Prenatal Testing; b-HCG: Beta Human Chorionic Gonadotropin; CVS: Chorionic Villus Sampling; Positive Predictive Value

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