The anticipation of the birth of a son and the joy of giving birth to a new life, is the greatest desire of a couple. The celebration of a project of great responsibility.

During pregnancy, there is however, present deep in the heart of the parents, the fear that this expectation should be hiding a painful surprise: the discovery at birth that their child may present a defect, impairment, anomaly, a malformation. This doubt, and this fear, have always been present in the thought of mothers and families as demonstrated by the popular tradition which reads, as always, the invocation and prayer that your child comes into the world “healthy and free.”

Tell yourself right away, to calm pregnant women, that fetal malformations – despite being very numerous (about 5 out of 100 children at birth show anomalies) – affects the minority of births. And that number goes up to almost 8 on the first year of life, since there is an added percentage of subjects whose faults are discovered later in time.

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Graph.1:

Graph shows the percentage of newborn with anomalies during their first year of life. While, most of these anomalies are found at birth, in other circumstances it requires several months before recognizing the pathology. For example, despite to Down Syndrome has always been paid great attention and it represents the most frequent chromosomal disorder, primary related to maternal age, it is actually a marginal problem considering all anomalies can affect a fetus.

At the beginning of the introduction of PD, the attention has been focused only on a few syndromes, such as Down. You must know, however, that this condition, although it is perhaps the best known, represents only a small percentage of all the problems that may occur.

In fact, while the Down syndrome accounts for only 0.15% of all births, congenital abnormalities are 8% as well. Although it is the most common form among chromosomal disorders , this syndrome, also known as “mongolism”, depending largely on the advanced maternal age and, represents only a very marginal impact of the problem of congenital defects.

 

Over 90% of our children are born in perfect health!

For nearly 40 years, science has met both the parents legitimate desire of knowledge and regulatory requirements that need a mother informed and aware about her child health. That is why Prenatal Diagnosis (PD), a branch of modern Obstetrics that investigates the status of the fetus in utero, has been incredibly developed. In addition to informing parents, it seeks to remedy the anomalies by transferring diagnostic information to obstetrician and pediatrician.

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Today, due to important genetic improvements, we are wise that genetic abnormalities appear to be the absolute the main cause of fetal anomalies. Environmental, toxic and infectious causes, even if present, should be giving up quickly.

An increasing number of cases, where at first it was believed that a malformation hypothesis derived from an infectious or toxic and then, after the study of DNA, is due to a mistake that we might today call “genetic programming”. Failure of DNA.

The vast majority of congenital anomalies (except the small part related to Down syndrome) is independent of age and it can occur at any age, even in young women.

Nowadays, the diagnostic capabilities are so extensive that performs a prenatal diagnosis, only in older women (ex. beyond 35 years), is no longer a choice that makes much sense!

Humanity  pays a heavy price to the evolution. As mentioned above, 80 in 1000 births present severe diseases.

After years, of these 80 chidren, about 50 ,will be added to the calculation the other 20 or 30. Theere are a lot of causes for such large number of faults, but genetic abnormalities represent the vast majority. Moreover, about 20 of these 80 children, are  suffering both from genetic diseases and defects in other sources (ie infectious, environmental, toxic or multifactorial as the result of multiple causes) Finally, it should be considered that even in multifactorial diseases a “genetic predisposition” could still play an important role.

It is well known that about 4500 congenital diseas are due to genetic disorders.