Q Hi, With my wifes (24 year old, mother of 1 child) recent first trimester screening her Beta Free HCG number was 3.04 mom and PAPP-a number was 0.41 mom. Her ultrasound is more normal with Nuchal Translucency @1.5 and no other visible markers except probably may be facial angle @87degrees. Combining all of this, we were given an odds of 1:504 for Trisomy 21. Doctors have asked us to wait for second trimester scanning to look for any markers before deciding to do further invasive diagnostic tests to confirm/deny downs syndrome. My question is, how often do women with wacky blood numbers have babies with Trisomy 21? Also, do we have any non-invasive diagnostic testing available in India like MT21, Harmony etc. Please advise.
The Beta free HCG number is at a slightly higher level than normal. Similarly, the PAPP number is also decreased. The nuchal translucency at 1.5mm is normal for a first trimester scan. The total risk factor calculated by the software program in your wifes case is very less( Up to 0.02%). There is an extremely low risk factor of having a baby with Downs syndrome. In India NIPT test is done to detect trisomy 21. NIPT stands for non invasive prenatal test. It is also called as non invasive fetal trisomy test.rnrn