Prenatal diagnostic tests

According to the OMIM (Online Mendelian Inheritance in Man) database, over 7,600 genetic diseases are documented worldwide. The incidence of clinically significant genetic diseases at birth, following a routine prenatal ultrasound examination of the fetus, is approximately 1 in 70.
 

The risk of having a child with Down syndrome increases with the age of the mother. It is important to compare this age-related risk with the likelihood of having a child with a genetic disorder following a routine prenatal ultrasound.
 

For expectant mothers who wish to ensure the highest level of certainty that their child will not be diagnosed with a chromosomal or genetic disease after birth, we recommend undergoing Diagnostic Amniocentesis, preferably around the 16th week of pregnancy.
 

Amniocentesis can detect over 99% of all known chromosomal and genetic diseases, many of which cannot be identified through prenatal screening tests. However, it is important to consider that there is a risk of miscarriage associated with this diagnostic test, which is about 0.1%, or 1 case in every 1,000 tests performed.