What are the causes of congenital malformations?

What are Congenital Malformations?

Congenital malformations are the defects, or you can call the abnormalities in the baby’s body that develop during pregnancy.

There are more than 4000 forms of congenital anomalies, and they are included in two large groups:

Structural Congenital Malformations:  are those in which the baby is born without a part of the body or with a malformation in that part.

Congenital heart malformations: within this group, the most frequent are Cleft Lip or Palate, Congenital Hip Dysplasia, Spina Bifida, or Clubfoot.

Functional Congenital Malformations: when there is a problem in the chemical composition of the body. Just like it happens with those that affect the metabolic, nervous, or immune system. The best known are Down Syndrome, Deafness, Blindness, Congenital Hypothyroidism, Chiari Malformation, or Tay-Sachs disease.

Prognosis of the disease

According to WHO, more than 303,000 newborns die each year during the first 4 weeks of life due to Congenital Malformations.

Many diseases can be prevented if detected at early stages. 

There are multiple levels of Congenital Malformations based on its severity. Some do not even require treatment, and others may need treatment and follow-up for a few years or for life, or even emergency surgeries. 

The current reality is that Congenital Malformations are an important 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 Mexico.

On the other hand, Infrequent Diseases pose a greater challenge for thousands of families, who find themselves more helpless when facing an unknown disease.

Symptoms of Congenital Malformations

When a baby that is developing presents malformations, it does not produce notable symptoms in the mother, but the only way to detect them in time is to carry out a correct follow-up of the pregnancy, Genetic and prenatal studies.

On the other hand, the symptoms caused by Congenital Malformations in the newborn are highly variable depending on the specific malformation and the degree it presents.

Some malformations are imperceptible or allow a perfectly autonomous life, while others are disabling or require lifelong treatment.

Medical tests for congenital malformations

Most diagnostic tests for congenital diseases are usually carried out during pregnancy in the follow-up that the future mother must carry out with the specialist.

Ultrasound allows the gynecologist to observe the evolution and development of the fetus, being able to detect a large part of congenital malformations: for example, it allows Down Syndrome to be detected during the first trimester of pregnancy or there might be serious fetal anomalies up to the second trimester.

Amniocentesis is another of the key tests in the detection of pathologies such as neural tube chromosomal abnormalities.

On the other hand, before pregnancy, it is also recommended that the couple undergo genetic studies to find out the risk of having a baby with Congenital Malformations.

What are the causes of Congenital Malformations?

Most of such cases are detected as 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
  • Diseases that the mother suffers during pregnancy
  • Food and care maintained during pregnancy

Can they be prevented?

Specialists in Gynecology and Obstetrics and health entities such as the WHO recommends a series of primary prevention measures for Congenital Malformations:

  • Take good care of the woman’s diet during pregnancy, with the necessary contribution such as maintaining the intake of folic acid
  • Avoid the use of harmful substances like tobacco and alcohol
  • control diabetes
  • Avoid exposure to toxic or dangerous substances such as pesticides
  • Avoid as much as possible exposure to radiation and the intake of medications

Improve vaccination against the viruses such as rubella

Treatments for Congenital Malformations

Many congenital malformations can be improved through surgery, even during pregnancy.

In other cases, newborns may require pharmacological treatment from birth or even undergo emergency operations to save their lives.

The treatment that each patient will require may vary depending on their Malformation or Congenital Pathology and their evolution.

What specialist treats them?

The specialists in detecting these malformations are the Gynecologist and Obstetrician, who carry out the follow-up of the pregnancy.

The Pediatric Surgeon can intervene in the treatment of some malformations.

Other specialists such as psychologists or speech therapists can also intervene in the treatment of malformations