Monday, 02 July 2018

Detected down syndrome early during pregnancy

Down syndrome is a condition of physical and mental retardation in children caused by the abnormalities in the chromosome development.

Commonly, a normally born infant has 46 chromosomes or 23 pairs of chromosomes, including a pair of chromosome 21. However, those with Down syndrome have an extra number of chromosome 21, resulting in total 47 chromosomes.

In Indonesia, it is estimated that there are 300,000 babies born with Down syndrome. Down syndrome is not the terrible condition to worry as it can be detected early during pregnancy.

The couples, especially for pregnant women, can take a laboratory test to early detect Down syndrome. Various examinations can be carried out to predict the risk of a fetus having down syndrome. Such examinations are ideally conducted in the 1st and 2nd trimester of the pregnancy.

However, aside from the aforementioned examinations, there is one with the higher sensitivity and specificity called NIPT (Non-Invasive Prenatal Testing) examination.

NIPT (Non-Invasive Prenatal Testing)

NIPT, or cell free fetal DNA testing, is a new way of screening test to figure out whether the conceived infant exhibits chromosome abnormalities, such as down syndrome (DS), trisomy 18, and trisomy 13. NIPT has higher sensitivity and specificity. NIPT can identify 98-99% chances of down syndrome out of 100 pregnancies with down syndrome.

In addition, NIPT has low false-positive value compared to any other kinds of test, which is < 0,1% (1-6). NIPT can also provide information about a baby' s sex with > 99% accuracy. NIPT-Harmony directly analyzes cell free fetal DNA in maternal blood to detect trisomy accurately.

NIPT can be conducted for pregnant women having the risk of down syndrome, particularly those in advanced maternal age, having been screened for the abnormal serum, possessing the aneuploidy history within the family, and having an abnormal USG result. This examination can be carried out anytime upon the 10th week of pregnancy or precisely between the 10th-22nd of pregnancy.

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