Publication:

Is prenatal screening for Down syndrome needed in young pregnant women?

Background Down syndrome originally known as Mongoloid’s idiocy is the most common autosomal disorder. Down syndrome (DS) can be detected by prenatal diagnosis which includes the triple marker screening test and chromosomal analysis.

Methods The study population comprised of 100 pregnant females amongst the age group of 20-45 (32.10±4.86) years. Triple Marker Test was done followed by amniocentesis or CVS with karyotyping or FISH.

Results Risk of <1:250 was considered high risk whereas ≥1:250 was considered as low risk. 32/45 (71%) were false-positive for Trisomy 21 detected as high risk by TMT. But there was good sensitivity and specificity for Trisomy 18.

Conclusions It can be concluded that the triple marker test is indeed only a screening test for the DS and that it has to be confirmed with the help of chromosomal analysis. The higher maternal age is an important parameter in DS but nowadays, even ones with a lower maternal age can also have a child with DS. So, in general, now all women are recommended to go for biochemical screening during their pregnancy.