World Birth Defects Day: prevention is lacking

What are birth defects?

Congenital defects, also called congenital anomalies or rare diseases (when a birth defect is very rare), are structural or functional anomalies that occur during intrauterine life.

They can be diagnosed during pregnancy (through prenatal diagnosis), at birth or in the first years of life. Examples of structural defects (congenital malformations) are: congenital heart defects, spina bifida, cleft lip or palate, agenesis of limbs, hypospadias, clubfoot, Down syndrome, congenital rubella syndrome, congenital Zika virus syndrome . Examples of functional defects are: metabolic diseases, hypothyroidism, congenital adrenal hyperplasia, thalassemia, sickle cell anemia, cystic fibrosis, cerebral palsy, muscular dystrophy, deafness, autism, ADHD.

Therefore, they therefore include all those defects that can arise, for example, due to an infection with toxoplasmosis,  cytomegalovirus ,  rubella,  hebatitis B, varicella during pregnancy, without forgetting all those pathologies linked to an incorrect lifestyle of the pregnant mother (smoking, alcohol, drugs , drugs…).

Considering all cases, the frequency of congenital defects can be estimated at around 5%: one child out of every 20 born has a malformation.

Every year in Italy about 25,000 newborns are born with a malformation, 480 children every week . If you think about it, it’s a very high number, which could be reduced with adequate pre and post natal prevention and assistance.

An example of a birth defect is spina bifida which could be prevented by taking folic acid.

Only 25% of mothers start a pregnancy with the correct levels of folic acid, too many women are not adequately informed about the risks of toxoplasmosis and how to prevent it.

World birth defects day

The Italian Society of Neonatology (SIN) on the occasion of the World Birth Defect Day , which is celebrated on March 3 of each year ,  raises the alarm on a matter of great importance for public health, but little known.

“To really bring the newborn back to the center of the future and of social policies, we must offer all children who are born equal opportunities for health and well-being , intervening with a widespread cultural action that first of all affects the information of future parents “, he says the President of SIN Fabio Mosca,  “Pre-conception prevention, which certainly is not limited to the prescription of folic acid, but includes the removal of all the risk factors known up to now, in fact, it is the main challenge to be faced in the coming years, because it is capable of reducing not only congenital defects, but also some childhood and adult diseases that have prenatal origins. In the pre-conception period, the good state of health of the woman, her lifestyle, her diet, her intake of essential vitamins influence the success of conception and the normality of embryonic development: during the first weeks (even before the woman realizes of being pregnant) the various organs are formed and the foundations are built for the well-being of the future child. It is therefore essential, when a couple decides to have a baby, that the expectant mother contact her trusted doctor for a general visit, an in-depth assessment of her health conditions, lifestyle and medical history, (the state of immunity against some infectious diseases such as rubella, chicken pox, hepatitis B, toxoplasmosis, cytomegalovirus, any therapies in progress, previous pregnancies, presence of genetic diseases among family members), in way to implement all those precautions that increase the possibility of having a healthy baby. It is necessary to implement modern surveillance programmes, useful to the community, capable of really directing prevention and assistance policies: surveillance of both pre- and peri-conceptional modifiable risk factors, as well as the efficacy of treatments and quality of life of children with a birth defect”. cytomegalovirus, any therapies in progress, previous pregnancies, presence of genetic diseases among family members), in order to implement all those precautions that increase the possibility of having a healthy baby. It is necessary to implement modern surveillance programmes, useful to the community, capable of really directing prevention and assistance policies: surveillance of both pre- and peri-conceptional modifiable risk factors, as well as the efficacy of treatment and quality of life of children with a birth defect”. cytomegalovirus, any therapies in progress, previous pregnancies, presence of genetic diseases among family members), in order to implement all those precautions that increase the possibility of having a healthy baby. It is necessary to implement modern surveillance programmes, useful to the community, capable of really directing prevention and assistance policies: surveillance of both pre- and peri-conceptional modifiable risk factors, as well as the efficacy of treatments and quality of life of children with a birth defect”.

The importance of prevention

The recurrence of  World Congenital Defects Day , World Birth Defect Day serves precisely to raise awareness of the importance of prevention not only for couples but also for health professionals and those who have to decide on public health.

“ There is a lack of an organic prevention policy that begins well before the pregnancy, as soon as the couple begins to think about having a baby”, Mosca continues. “The result is that there are still few couples who turn to health services to prevent the problem of congenital defects. Only one data, but very indicative, and “Italian”: the possibility of starting a pregnancy with an optimal level of folatemia to reduce the risk of neural tube defects (and not only!) should be offered to 100% of future mothers through a prolonged intake of folic acid (0.4 mg/day) before conception, but this possibility is concretely offered only in 20-25% of them”.