Invasive procedures are required for prenatal diagnosis of genetic diseases and genetic monitoring of fetal development.




If you've been pregnant before, for sure you have heard or at least read about amniocentesis and chorionic villus sampling (CVS) which are both invasive procedures.

Now, prenatal genetic diagnosis may be possible to conduct non-invasively, by just analysing the pregnant mother's blood:

In the study, it was shown that a common pattern of fetal mRNAs, the molecules that hold the "blueprints" for proteins, was detectable in the blood of pregnant women. After birth, these mRNAs were no longer detected or were detected at substantially lower levels.

These data have two important implications: first, the common pattern of fetal mRNAs found in the blood of the pregnant women could serve as a baseline to compare fetuses affected by various pathologic conditions; and second, monitoring specific fetal mRNAs in the blood of pregnant women could be used for prenatal diagnosis of genetic diseases.

amniocentesis is performed by inserting a thin needle through the pregnant woman's abdomen into the uterus (womb) and withdrawing a small amount of fluid. CVS on the other hand is performed by removing a small sample of the placenta (nourishment for the baby) from the uterus with the use of either a catheter (a thin tube) or a needle.

I'm cringing just reading the above paragraph. Thank God a blood analysis will be as indicative of any genetic malformations.

Source: Science Daily; JCI Article Abstract