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 every woman, 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.
For more Biomedical open access journals Pleass click on
Non Invasive Prenatal Testing- Indian Scenario by Mala Srivasatava in BJSTR
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