What are congenital malformations?
Congenital malformations are defects or abnormalities in a baby’s body that develop during pregnancy. There are more than 4000 forms of congenital anomalies, and they fall into two major groups:
- Structural congenital malformations: these are those in which the baby is born without a body part or with a malformation in that part. Within this group, the most frequent are congenital cardiac malformations, as well as cleft palate, congenital hip dysplasia, spina bifida or clubfoot.
- Functional congenital malformations: these refer to when there is a problem in the chemical composition of the body, such as those affecting the nervous, metabolic or immune systems, the best known being Down syndrome, deafness, blindness, congenital hypothyroidism or Tay-Sachs disease.
Prognosis of the disease
According to World Health Organization figures, 303,000 newborns die each year during the first 4 weeks of life due to congenital malformations. Fortunately, many of these diseases are preventable if detected early during pregnancy.
There are many degrees of severity in congenital malformations, so that some do not even require treatment, while others may require treatment and follow-up for years or a lifetime, or even emergency surgery. The reality today is that congenital malformations are a major cause of infant mortality, disabilities and chronic diseases.
Thanks to advances in medicine, congenital malformations occur in very few cases, only 15 out of every 1,000 newborns in Spain. On the other hand, as many of them are rare or infrequent diseases, they pose a greater challenge for thousands of families, who are more helpless when faced with an unknown disease.
Symptoms of congenital malformations
When a baby in gestation presents malformations, it does not produce noticeable symptoms in the mother, but the only way to detect them in time is to carry out a correct follow-up of the pregnancy and genetic and prenatal studies.
On the other hand, the symptoms caused by congenital malformations in the newborn are very variable depending on the specific malformation and the degree it presents. Some malformations are imperceptible or allow a perfectly independent life, while others are disabling or require lifelong treatment.
Down syndrome is one of the best known congenital pathologies.
Medical tests for congenital malformations
Most diagnostic tests for congenital malformations are usually performed during pregnancy in the follow-up that the expectant mother should have with the specialist. Ultrasonography allows the gynecologist to observe the evolution and development of the fetus, and can detect a large number of congenital malformations: for example, it can detect Down syndrome during the first trimester of pregnancy or serious fetal anomalies up to the second trimester.
Amniocentesis is another key test in the detection of pathologies such as neural tube defects or chromosomal abnormalities during the first two trimesters of pregnancy.
On the other hand, before pregnancy, it is also advisable for the couple to undergo genetic studies to determine their risk of having a baby with congenital malformations.
What are the causes of congenital malformations?
Most of these malformations are of unknown origin, but various agents have been detected that may be related to the appearance of several of them:
- Genetics of the parents
- Consumption of certain drugs
- Maternal age
- Illnesses suffered by the mother during pregnancy
- Diet and care during pregnancy
Can they be prevented?
Specialists in Gynecology and Obstetrics and health entities such as the World Health Organization recommend a series of primary prevention measures for congenital malformations:
- Take care of the woman’s diet during gestation, with the necessary intake of vitamins and minerals such as folic acid.
- Avoid consumption of toxic or harmful substances such as tobacco and alcohol.
- Control diabetes.
- Avoid exposure to toxic or hazardous substances such as pesticides.
- Avoid exposure to radiation and ingestion of medications as much as possible.
- Improve vaccination, especially against rubella virus.
Treatments for congenital malformations
Many congenital malformations can be corrected or improved by pediatric surgery, even during gestation. In other cases, newborns may require pharmacological treatment from birth or even emergency surgery to save their lives.
The treatment required by each patient may vary depending on the congenital malformation or pathology, as well as its evolution.
Which specialist treats them?
The specialist in detecting these malformations is the Obstetrician and Gynecologist, who carries out the follow-up of the pregnancy. The pediatric surgeon may intervene in the treatment of some malformations, and the pediatrician will be the specialist in charge of monitoring and assessing the baby after birth. Other specialists such as speech therapists or psychologists may also intervene in the treatment of malformations.