What is fetal malformations: diagnosis, causes

Pregnancy is a wonderful period in the life of every woman - an anxious expectation of the birth of a new man. Every minute, the mother listens carefully to her child, enjoys his every movement, responsibly passes all the tests and patiently waits for the results. And any woman wants to hear that her child is absolutely healthy. But, unfortunately, not every parent hears this phrase.

In medical practice, there are various types of fetal pathologies that are installed in different trimesters of pregnancy and pose a serious question for parents whether to leave a child or not. Development problems can be of two types: acquired and congenital.

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About varieties of pathologies

As mentioned earlier, pathologies are:

  • Congenital.
  • Acquired.

The cause of deviations can be both genetic and external factors. Congenital appear even at the stage of conception, and with proper medical qualifications of a doctor are detected at the earliest possible date. But acquired can appear at any time of fetal development, they are diagnosed at any stage of pregnancy.

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Congenital pathologies and their varieties

Doctors call all fetal malformations associated with genetics trisomy. They appear at the first stages of intrauterine development and mean deviations from the number of chromosomes in a child. Such pathologies are:





  • Patau Syndrome. With this diagnosis, there is a problem with chromosome 13. This syndrome manifests itself in a variety of malformations, multi-fingering, deafness, idiocy and problems with the reproductive system. Unfortunately, children with this diagnosis have little chance of surviving to one year old.
  • Down Syndrome is a notorious diagnosis that has been causing a strong resonance in society for many years. Children with this syndrome have a specific appearance, suffer from dementia and stunted growth. Violations occur with chromosome 21.
  • Edwards syndrome in most cases ends in death, only 10% of newborns survive to a year. Due to the pathology of the 18th chromosome, children are born with noticeable external abnormalities: small eye slits, deformed ear shells, and a miniature mouth.

Syndromes fall into a separate category due to problems with sex chromosomes. They include:

  • Klinefelter's syndrome - is characteristic of boys and is expressed by mental retardation, infertility, sexual infantilism and lack of body hair.
  • Shereshevsky-Turner syndrome affects girls. Short stature, disturbances in the somatic system, infertility and other disorders of the reproductive system are also observed.
  • Polysomies on the X- and Y-chromosomes are expressed by a slight decrease in intelligence, the development of psychoses and schizophrenia.

Sometimes doctors diagnose a disorder such as polyploidy. Such violations promise a fetal death.

If the cause of the fetal pathology is in gene mutations, then it is already impossible to cure or fix something. When they are born, children are simply obligated to live with them, and parents, as a rule, sacrifice many to ensure a decent existence for them. Of course, there are great examples of people who, even with a diagnosis of Down syndrome, have become famous throughout the world for their talent. However, you need to understand that these are happy exceptions rather than common cases.





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If we talk about acquired CDF

It also happens that fetal malformations are diagnosed in a healthy child. The reason is that deviations can develop under the influence of a wide variety of external factors. Most often, these are diseases that the mother suffered during the period of bearing the child, a harmful environmental situation or an unhealthy lifestyle of the parents. Such acquired pathologies can “hit” absolutely any system in the fetus.

The most common disorders include the following pathologies:

  • Heart disease.
  • Problems directly with internal organs (their deformation or even partial or complete absence. For example, sometimes there are CMD of the fetal kidney. Depending on the severity of the deviation, it is possible to solve the situation using modern medical advances. However, CMD of the fetal lungs often ends in the death of the baby), as well as disorders with limbs and other parts of the body. Often in such situations, the brain suffers.
  • Often, pathologies affect the facial skeleton, forming anatomical deformations of its structure.
  • Brain hypo- and hyper-excitability are expressed in the activity of the baby, in muscle tone and in his behavior. Such pathologies are perfectly treated, thanks to modern medicine.
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CPR for no specific reason

Acquired deviations can also include those pathologies whose causes remain a mystery to doctors:

  • Multiplicity (the most famous cases are the birth of Siamese twins).
  • Abnormalities of the placenta (hyper- and hypoplasia associated with its weight).
  • Mnogo- or oligohydramnios.
  • Pathologies of the umbilical cord (mottled cases from variations in length to problems with nodes and attachments. There is also thrombosis or a cyst - all this can lead to the death of the child).

Any of these pathologies requires a responsible approach to monitoring the fetus. So that parents never hear the terrible conclusion of the doctor, during the period of the alleged conception and gestation of the future family member, one should exclude as much as possible from their life all negative factors that may cause a pathology.

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What are the causes of congenital malformations of the fetus?

To protect your unborn child from deviations, you must first understand what can serve as a reason for developmental disorders of the baby. The prevention of fetal malformations of the fetus includes the mandatory exclusion of all possible factors that provoke genetic or acquired changes.

  • Most often, anomalies are caused by inherited deviations. If similar cases were recorded in the family history of the disease, then during pregnancy planning it is necessary to consult a doctor and take tests.
  • Harmful environmental conditions are a common cause of gene and acquired mutations.
  • During pregnancy, future mothers should take care of themselves, because transferred viral and bacterial diseases can be the starting point for the development of deviations.
  • Often, violations are caused by an improper lifestyle, smoking, alcoholism, etc.
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The importance of prenatal diagnosis

Many will know what fetal malformations are during pregnancy, only after prenatal diagnosis. Such a measure is necessary for bearing a healthy baby. So why is such an inspection very important and how is it done?

When diagnosing fetal malformations of the fetus, the first step is to make a pathology screening - a set of procedures that every expectant mother undergoes for 12, 20 and 30 weeks. In other words, this is an ultrasound examination. Sad statistics indicate that many will find out what is fetal malformations on ultrasound. An important stage of the test are extensive blood tests.

Who is at risk?

Specialists identify a special group of women who have a high percentage of risk of having an unhealthy baby. At the first examination, they take blood for tests and prescribe a deep diagnosis for the possible presence of pathologies. Most often they hear the diagnosis of fetal malformations of the future mother, who:

  • Over the age of 35.
  • Get serious medication during pregnancy.
  • Fell under radiation exposure.
  • Already had a pregnancy experience with a child with an abnormality or if they have a relative with genetic abnormalities.
  • There is a history of miscarriages that have died of pregnancy or stillbirth.

About forecasts

With absolute accuracy without the necessary medical examinations, no competent doctor can make a diagnosis. Even after receiving an opinion, the specialist gives only recommendations, and the decision is up to the parents. With anomalies that will inevitably lead to the death of the child (and in some cases a danger to the life of the mother), they suggest an abortion. If the matter is limited only to subtle external anomalies, then it will be completely possible to get by with plastic surgery in the future. Diagnoses cannot be generalized and are completely and completely individual.

You can do the right thing only after rational deliberation, having weighed all the pros and cons on the scales.

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Output

With minor anomalies and mutations with which the child can live a full life, timely medical care and modern scientific achievements work wonders. In no case should you be discouraged and you should always hope for the best, fully relying on the professional opinion of the doctor.




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