The anomalies that occur in the embryo, fetus or baby while in the womb deed of women are known as birth defects. In order for them to meet the condition that they call as congenital, they must be present alterations from birth.
Most of them originate in the first trimester of pregnancy , being able to manifest itself later or be detectable at the same time.
The congenital defect can alter the anatomy of the baby’s body, or it can alter the functioning of some system or organ. The severity is variable in these alterations.
Some are fully compatible with life and do not cause major inconvenience to human beings once they are born. Others are of intermediate severity, causing lasting disabilities or requiring chronic treatment, even to surgeries to the newborn.
There are also congenital defects that are incompatible with life , causing abortions or the death of the newborn as soon as it leaves the uterus.
Causes of congenital defects linked to DNA
Unfortunately, in most specific cases of embryos, fetuses or newborns with congenital anomalies , the causes are unknown . But sometimes you can find them. Here we list, first, the known causes linked to DNA:
- Chromosomal alterations: the origin is an error in the chromosomes of the ovule or sperm. Once the egg is formed, it is made up of an abnormal amount of chromosomes, some broken chromosome, or located elsewhere. An example is Down syndrome .
- Genetic abnormalities: the origin is an alteration of a specific gene. Genetic errors can be inherited or caused by damage to genes during fertilization. Some examples are achondroplasia, cystic fibrosis or phenylketonuria.
- Polygenic cause: Although it is assumed that the original problem in these cases are multiple combined alterations, genetic and chromosomal, there is no accuracy to define them. Examples are spina bifida, anencephaly, cleft lip or congenital hip dislocation.
External causes of congenital defects
We comment, now, secondly, the causes of external origin to the embryo or fetus , which can generate a congenital defect:
- Maternal diseases during pregnancy: they can alter the formation of the embryo or fetus, causing a congenital defect. Diabetic mothers who fail to control glycemia, hypertensive patients who fail to control their tension or hypothyroid not properly medicated are some examples.
- Environmental origin: infections contracted by the mother during pregnancy can alter the development of the pregnancy. We can mention here rubella, toxoplasmosis, syphilis and chickenpox.
Measures to prevent birth defects
Planning a healthy pregnancy is possible. These are the measures that a woman can easily take to reduce the risk of her baby suffering from a congenital anomaly:
- Consume folic acid: taking 400 micrograms daily, for 30-90 days prior to fertilization, and continued during at least the first trimester of pregnancy , decreases the risk of defects in infants’ brain and spine. In addition, there are foods naturally rich in the substance.
- Avoid alcohol: the indication for pregnant women is not to drink any alcohol during pregnancy, in any trimester. No alcoholic beverage has proven safe for the embryo or fetus.
- Getting away from tobacco: tobacco and nicotine have been associated with premature births and palatal fissure in babies. The pregnant woman should not smoke, nor remain in environments where other people smoke.
- Do not use recreational drugs: cocaine, marijuana and ecstasy affect the gestational development of a baby. These drugs have been associated with children born with low weight and significant anatomical defects, in the urinary tract and in the heart.
- Dispense with non-prescribed medications: there are medications that have no indication of use in pregnant women because they alter embryonic development causing congenital defects. A pregnant woman should never self-medicate.
The importance of medical control of pregnancy
The medical control of pregnancy, as well as consultations prior to fertilization of couples who plan to have children, are essential. The health professional is trained to detect changes in time, diagnose and treat them .
Likewise, it is also formed to provide the appropriate advice to prevent birth defects . There are two primary actions of a doctor in relation to the woman who plans to become pregnant, or who is controlling her pregnancy:
- Vaccinate: it is important that the woman has updated her vaccination schedule at the time of becoming pregnant, and that those vaccines that the doctor will indicate during pregnancy are placed.
- Control maternal pathologies: both pre-existing diseases and those arising from pregnancy, such as diabetes, hypertension or hypothyroidism, should be controlled so that they do not affect the development of the embryo or the fetus.