Causes of fetal development abnormalities. Congenital malformations of the fetus

Unfortunately, even in young and healthy married couples there is a possibility of having children with genetic or physical impairments. For their early identification, prenatal analysis for fetal pathology (screening) is provided.

information Screening is a complex of medical studies, tests and analyzes aimed at preliminary identifying a group of pregnant women who are more likely to have a certain disease than others.

When are tests taken?

At (10-14 weeks) a combined test is carried out, including the determination of biochemical markers: β-hCG and PAPP-a - “double test”, and the thickness of the nuchal space (TN) of the embryo is measured using ultrasound.

If pathology is suspected, a repeat study of biochemical markers is carried out within 15-20 weeks: α-fetoprotein (ACE), hCG and free estriol - a “triple test”. When interpreting the results obtained and determining the risk of chromosomal pathology of the fetus, it is necessary to take into account the data obtained in the first trimester of pregnancy.

Screening results can be confirmed or refuted using diagnostic invasive methods - chorionic biopsy and amniocentesis, while obtaining material of fetal origin that allows for genetic research.

At 20-22 weeks of pregnancy, almost all developmental defects are diagnosed by ultrasound examination internal organs.

Collection of material for research

During pregnancy, a woman’s body receives substances secreted by the placenta or penetrated into her blood from the fetus. During a biochemical analysis of the mother's blood taken from a vein, the concentration of these substances (markers) is determined, which makes it possible to judge the course of pregnancy and the development of the fetus.

Interpretation of analyzes

Of course, a geneticist should decipher tests for fetal pathology. No less important is the presence and assessment of risk factors (mother’s age over 35 years, consanguineous marriage, the presence of children with chromosomal abnormalities, abnormal ultrasound results, taking medications prohibited during pregnancy, etc.). One thing that can be noted is that the ratio of the concentration of the studied biochemical markers in the blood changes. For example, in the first trimester of pregnancy with Down syndrome (trisomy 21), the concentration of PAPP-a is significantly reduced, and β-hCG is increased compared to normal values for a given period.

Should we trust the analyses?

Combined screening in the first trimester of pregnancy makes it possible to identify up to 90% of fetuses with chromosomal abnormalities, while false positive results about 6%. The effectiveness of the “triple test” practically coincides with the performance of the combined test: 85-90% with 5% of false positive results.

additionally It's worth knowing that biochemical analysis blood test for fetal pathology only determines the likelihood of the presence of chromosomal pathology. If the indicators are changed, more in-depth studies (chorionic villus biopsy or amniocentesis) must be carried out.

If there is a discrepancy between test results and diagnostic methods, it is best to double-check everything again. So, for example, if an ultrasound did not reveal any abnormalities, and the analysis turned out to be positive, then this could be the same 5-6% of false-positive cases, or an incorrect ultrasound.

What to do when a pathology is detected?

If it is confirmed that the fetus has developmental defects that are incompatible with life, doctors recommend terminating the pregnancy. In other cases, the final decision will be yours!

IN modern world the level of medical technology has reached enormous heights - now most of the detected intrauterine pathologies are subject to correction, for example, some complex heart defects are eliminated with the help of surgical interventions in the first days after the birth of the baby. Unfortunately, medicine has not yet learned how to correct genetic pathology in a child.

What to do if you suspect and/or detect a pathology in a child – your mother’s heart will tell you! I wish you the right decisions and healthy babies!

Who needs to see a geneticist when planning a pregnancy and definitely before it occurs?

There is such a thing as genetic risk groups. These groups include:

Married couples with hereditary family diseases;

Consanguineous marriages;

Women with an unfavorable history: having repeated miscarriages, stillbirth, infertility without an established medical cause;

Exposure of future parents to unfavorable factors: radiation, prolonged contact with harmful chemicals, use of teratogenic drugs during the period of conception, i.e. causing deformities of the fetus, action;

Women under 18 and over 35 and men over 40 years old, because At this age, the risk of mutations in genes increases.

Thus, almost every second couple (more and more often women give birth after 35, doctors diagnose infertility, and first pregnancies end in miscarriages) should undergo a genetic consultation when planning a pregnancy.

When is genetic counseling necessary in early pregnancy?
Early pregnancy is the most important and vulnerable period of fetal formation. Various unfavorable situations can potentially disrupt the development of the organs of the unborn child. Patients are concerned about how it will affect the development of the child and whether they should have an abortion if they inadvertently in the early stages of pregnancy:

Got sick with influenza, ARVI, rubella, chicken pox, herpes, hepatitis, HIV-infected, etc.

Accepted medications, the annotation of which states “contraindicated during pregnancy”;

They took alcohol, drugs, smoked (“drunk conception” - how dangerous is that?);

We treated the teeth with an X-ray examination and did fluorography;

They sunbathed, rode horses, went mountain climbing, diving, dyed their hair, got piercings, etc.

Laboratory diagnosis of malformations during pregnancy

And now the desired pregnancy has come. Is it possible to find out early on whether everything is okay? Modern medicine answers this question positively. Obstetricians-gynecologists and geneticists have at their disposal a variety of diagnostic methods that make it possible to judge with high probability the presence of developmental defects even when the child is in the womb. The chances of accuracy are increasing due to improvements in ultrasound technology and laboratory diagnostics. And in last years Screening research methods are being used more and more widely. Screening is a massive “sifting” study. It is carried out on all pregnant women to identify risk groups. Why is it carried out for everyone? Because statistics show that among mothers who gave birth to children with Down syndrome, only 46% were over 35 years old. And only 2.8% had a history of giving birth to children with chromosomal diseases or developmental defects. This once again proves that chromosomal pathology is the lot not so much of patients at risk, but of young unburdened families who do not have any diseases.

Screening methods include determination of biochemical markers (BM) in maternal blood serum and ultrasound of the fetus. Such BMs in the first trimester are pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG). In the second trimester, these BMs are alpha-fetoprotein (AFP), hCG and estriol. In the first trimester, BM examination is carried out from 8 to 12-13 weeks of pregnancy (early prenatal screening), in the second - from 16 to 20 weeks of pregnancy (late prenatal screening or triple test).

AFP is the main component of the blood of the developing fetus. This protein is produced by the fetal liver and is excreted into the fetal cavity in urine. ovum, is absorbed through the fruit membranes and enters the mother’s blood. By examining blood from the mother's vein, one can judge its quantity.

It must be said that an increase or decrease in the amount of AFP by 2.5 or more times compared to the norm is significant for diagnosis. For example, with anencephaly (absence of the brain), this figure increases 7 times!

All parents want their babies to be healthy. But at the stage of pregnancy, few people think that the child may be born with some kind of impairment. However, the likelihood similar situation must be taken into account by doctors. After all, many problems in a baby’s development can be successfully corrected even before he is born, and some disorders are so serious that it is better to know about them in advance and make appropriate decisions. The topic of our conversation today will be intrauterine defects fetal development. Let's talk about what congenital malformations of the fetus are, what the reasons for their appearance are, we'll tell you how they are determined (screening, analysis) and prevented.

Causes of fetal malformations

Doctors say that there are many factors that can cause developmental abnormalities in children at the stage intrauterine development. More often similar violations are explained by various genetic defects - either hereditary or acquired due to various failures in the process of embryogenesis.

Problems at the genetic level can be caused by the influence of insufficiently favorable factors external environment, For example, ionizing radiation, exposure to aggressive chemical substances and even some medications.

Also, malformations can occur due to illnesses of the mother, due to the fact that there is a serious lack of vitamins and minerals in the body. The influence of bad habits on the fetus is also dangerous.

Sometimes genetic defects are passed on to children from one of the parents or occur after the genetic information of a man and a woman is combined.
It is worth noting that in most cases, a genetic mutation of the fetus causes the cessation of its development even before early stages pregnancy.

Congenital defects fetal development

All anomalies, as well as malformations of the fetus, can be divided into two main groups. These are hereditary and congenital pathologies.

Hereditary defects include Shereshevsky Turner syndrome, Down syndrome, color blindness, hemophilia, ptosis, etc.

And congenital - heart defects, hernias, joint dislocations, deformities of the maxillofacial area, congenital malformations nervous system etc.

It is worth noting that most often developmental anomalies are explained by a combination of the presence of a hereditary predisposition and the influence of aggressive factors.

Determination of fetal malformations

For timely detection possible violations In the development of the fetus, the expectant mother has to undergo a lot of research. In fact, prenatal diagnosis of fetal malformations is a rather complex process. And one of the most important stages of such diagnostics is screening for fetal malformations. This is a whole range of examinations, which is carried out at the twelfth, twentieth and thirtieth week of pregnancy. Analysis for fetal malformations helps detect biochemical serum markers of chromosomal pathologies in the blood.

In the first trimester of pregnancy, at 12 weeks of pregnancy, the expectant mother must undergo a so-called double test. A blood test can determine the amount of free β-subunit of hCG in the blood, as well as PAPP-A (pregnancy-associated plasma protein A). The analysis is supplemented by ultrasound data.

In the 2nd trimester of pregnancy, an analysis is carried out for the level of total hCG or the free β-subunit of hCG, for AFP (alpha-fetoprotein), as well as for the amount of free (unconjugated) estriol. The analysis is necessarily supplemented by ultrasound results.
When the 30th week of pregnancy approaches, an ultrasound scan of the uterus and fetus is performed.

The most informative diagnostics congenital malformations of the fetus - a research method using ultrasound. Ultrasound examination allows us to identify a variety of anomalies - to suspect genetic disorders, and to identify abnormal formation of organs, etc.

HCG research allows you to determine intrauterine pregnancy, its abnormal change can be observed in some chromosomal pathologies.
Too high alpha-fetoprotein can be detected with the development of open defects of the central nervous system, and a decrease in this substance indicates the likelihood of developing Down syndrome.

The amount of estriol should gradually increase as the fetus develops.

It is worth noting that blood tests for fetal malformations are not always informative. Fluctuations in indicators may be explained emotional state the expectant mother, her health problems, non-compliance with the diet, and even an error during blood sampling and the actual research.

In the event that the results of ultrasound and blood tests are alarming and show high probability fetal malformations, the doctor may advise the expectant mother to undergo invasive methods diagnostics:

Chorionic villus biopsy - collection and examination of part of the cells of the fertilized egg, allows to identify the presence of genetic pathologies;

Amniocentesis - taking a certain amount amniotic fluid, in the first trimester, such a study helps to identify hyperplasia of the adrenal cortex, and in the second - chromosomal pathology and ailments of the nervous system;

Placentocentesis is a study of the placenta lobe, carried out from the twelfth to the twenty-second week of pregnancy and allows to identify the presence of genetic pathologies;

Cordocentesis - taking a certain amount of blood from the umbilical cord developing fetus, such a study allows you to determine the presence of blood diseases and infection of the fetus;

Fetal skin biopsy - performed to identify certain skin conditions.

Prevention of fetal malformations

Extremely important role competent prevention of possible fetal malformations plays a role. Conscious preparation of men and women for pregnancy is the main measure to prevent such problems. The right approach before the baby is born allows you to quickly achieve desired conception, ensure a trouble-free course of pregnancy and childbirth, and also affects the health of the baby throughout his life.

Both parents need to be examined in advance for the presence of hidden infections and to determine the presence of possible chronic ailments. Visiting a competent geneticist is extremely important. Such a doctor helps to find out whether any diseases will appear in the child, identifies a tendency to genetic diseases, analyzing the health characteristics of representatives previous generations.

The most important factor for successful development and birth healthy baby is correct healthy image life, both during the entire period of gestation and long before conception. For the expectant mother It is imperative to give up bad habits, eat a healthy and balanced diet, and eliminate the influence of aggressive factors: physical, chemical and biological. To prevent complications while carrying a baby, it is necessary to promptly treat existing diseases. Directly during pregnancy, it is extremely important to follow all the recommendations of a qualified gynecologist, undergo the necessary examinations that allow timely detection of possible deviations V natural development fetus

Fetal developmental defects are serious problem which often requires making unpleasant decisions, such as artificial interruption pregnancy. But some problems of this kind can be corrected during pregnancy or shortly after the birth of the child.

Folk recipes

Expectant mothers should not use most medications and herbal preparations, as they can disrupt the normal course of pregnancy and even cause fetal malformations. But some herbs for pregnant women can be of great benefit.

So herbal remedies can come in handy when you need to calm down and make it easier to fall asleep. Excellent choice it will become ordinary mint. To prepare the medicine, grind peppermint leaves. Brew a teaspoon of this raw material with a glass of boiling water and leave under the lid for ten to fifteen minutes.

Strain the finished drink and add honey and lemon to it if desired. Drink this tea one or two glasses a day, no more.

To successfully carry a pregnancy, it is extremely important to consult a doctor at the stage of planning conception, follow the advice of a specialist and undergo all the necessary examinations during all three trimesters.

Pregnancy is a joyful and at the same time anxious anticipation of the mystery of nature that is about to happen. Throughout the entire path of the baby’s intrauterine development, the mother listens sensitively to his every movement and anxiously awaits the results of all the tests taken and the results of any research completed. Everyone wants to hear the same phrase from doctors: “Your child is healthy.” But this is not always the case.

There are various fetal pathologies that are diagnosed on different dates pregnancy and force parents to make a serious decision - whether the baby will be born or not. Painful deviations from the normal development process can be congenital or acquired.

Since the causes of pathologies in the fetus may be due to genetics or external factors, there are differences between congenital and acquired abnormalities. The former are present from the very moment of conception and are most often diagnosed in the early stages, while the latter can appear in the child and be detected by doctors at any stage of pregnancy.

Congenital

Congenital genetic pathologies of the fetus are called trisomy in medicine. This is a deviation from the norm of a child’s chromosomes, which appears in the earliest stages of its intrauterine formation.

Pathologies caused by an incorrect number of chromosomes:

• Down syndrome - problems with the 21st chromosome; signs - dementia, specific appearance, growth retardation;
• Patau syndrome - disorders with the 13th chromosome; manifestations - multiple defects development, idiocy, polyfingeredness, problems with the genitals, deafness; sick children rarely live beyond 1 year;
• Edwards syndrome - pathologies of the 18th chromosome; symptoms - small lower jaw and mouth, narrow and short palpebral fissures, deformed ears; 60% of children do not live to see 3 months, only 10% reach 1 year.

Diseases caused by an incorrect number of sex chromosomes:

• Shereshevsky-Turner syndrome - the absence of an X chromosome in a girl; signs - short stature, infertility, sexual infantilism, somatic disorders;
• polysomy on the X chromosome manifests itself slight decrease intelligence, psychosis and schizophrenia;
• polysomy on the Y chromosome, symptoms are similar to the previous pathology;
• Klinefelter syndrome affects boys, signs are weakened hair growth on the body, infertility, sexual infantilism; in most cases - mental retardation.

Pathologies caused by polyploidy (the same number of chromosomes in the nucleus):

• triploidy;
• tetraploidy;
• the reason is fetal gene mutations;
• lethal before birth.

If the causes of fetal pathology during pregnancy are genetic character, they can no longer be corrected, such diseases are incurable. The child will have to live with them all his life, and the parents will have to sacrifice a lot to raise him. Of course, among patients with Down syndrome, for example, there are talented, even gifted people who have become famous throughout the world, but you need to understand that these are a few, happy exceptions to the rules.

Purchased

It also happens that an embryo can be absolutely healthy genetically, but acquires deviations during its uterine development under the influence of a variety of unfavorable factors. These could be illnesses the mother suffered during pregnancy, poor environmental conditions, poor lifestyle, etc.

Acquired pathology of the fetus during pregnancy can affect a variety of organs and systems. Among the most common are the following:

• deformation or absence (complete, partial) of internal organs (most often the brain is affected) or parts of the body (limbs, for example);
• anatomical defects of the facial skeleton;
• heart defects;
• non-closure of the spinal canal;
• cerebral hypoexcitability (perinatal) manifests itself after the birth of a baby in the form of low muscle tone, lethargy, drowsiness, reluctance to breastfeed, lack of crying, but this pathology is treatable;
• cerebral hyperexcitability (perinatal) is also successfully treated, symptoms are severe tension, prolonged crying, screaming;
• hypertensive-hydrocephalic syndrome is characterized by increased head volume, bulging fontanel, disproportions between the facial and cerebral lobes of the skull, and developmental delays.

IN special group One can also identify deviations from normal intrauterine development, the causes of which are very difficult to determine. This is how nature ordered it, and nothing can be done about it. These include:

• detected on different stages pregnancy pathology of the fetal umbilical cord: it can be too long or very short, loss of its loops, nodes, abnormal attachment, thrombosis and cysts - all this can lead to the death of the child;
• multiple births (including conjoined twins);
• many- and ;
• pathologies of the placenta: hyperplasia (it is too heavy weight) and hypoplasia (if its weight is less than 400 g), heart attack, chorioangioma, trophoblastic disease, placental insufficiency;
• Some doctors also call incorrect presentation of the fetus a pathology.

Each of these deviations requires doctors and parents to have a special attitude towards the child they are carrying, extreme care, and most importantly, remaining calm. In order not to hear a disappointing diagnosis from a doctor, you need to try to exclude from your life all factors that could cause acquired fetal pathologies. This is within the power of every woman expecting a child.

Stars with Down syndrome. People with Down syndrome can be gifted. Celebrities with this congenital pathology include artist Raymond Hu, champion swimmer Maria Langovaya, lawyer Paula Sazh, actors Pascal Duquenne and Max Lewis, musician and composer Ronald Jenkins.

Causes

Prevention of fetal pathologies involves excluding from the life of a young mother those factors that can provoke the development of intrauterine abnormalities. The most common causes of such diseases include the following.

Heredity

If you know that you have genetic abnormalities in your family, even before conception you need to undergo a series of examinations and.

Unfavorable environmental conditions

Mom's work at a chemical plant, in a laboratory with toxic substances, living next to large industrial enterprises or a radiation zone can lead to irreversible consequences.

Wrong lifestyle

External deformities of newborns are very often caused by smoking, alcoholism, drug addiction, and insufficient or poor nutrition of the mother during pregnancy.

Diseases

Viral and bacterial diseases can result in the most dangerous pathologies for the baby:

• flu up to 12 weeks ends either in a miscarriage, or the child will be completely healthy;
• flu after 12 weeks can lead to pathologies of the placenta;
• rubella is fraught with deafness, blindness, glaucoma and damage skeletal system fetus;
• toxoplasmosis, transmitted through cats, provokes the development of microcephaly, meningoencephalitis, dropsy of the brain, damage to the eyes and central nervous system;
• hepatitis B: intrauterine infection of the fetus with this virus is dangerous, as a result, 40% of children can be cured, but 40% die before the age of 2 years;
• cytomegaly can be transmitted to the baby in the womb, and he runs the risk of being born blind, deaf, with cirrhosis of the liver, damage to the intestines and kidneys.

Sexually transmitted diseases are no less dangerous for the intrauterine development of the fetus:

• herpes can be transmitted to a child and cause pathologies such as microcephaly, malnutrition, blindness;
• a fetus infected with syphilis has a specific rash, damage to the skeletal system, liver, kidneys, and central nervous system;
• Gonorrhea leads to eye diseases, conjunctivitis, generalized infection (sepsis), amnionitis or chorioamnionitis.

To avoid such dangerous consequences For the life and health of the unborn baby, parents must do everything possible to eliminate the above reasons. Leave with harmful work, move away from the industrial area, quit smoking and drinking, eat nutritiously, avoid diseases and treat them at the first symptoms. You can find out about fetal pathology as early as 12 weeks, when the first examination for its presence is carried out.

Talkative statistics. With maternal alcoholism, toxicosis is found in 26%, fetal death child - in 12%, miscarriages - in 22%, difficult births - in 10%, premature babies- in 34%, birth injuries - in 8%, asphyxia - in 12%, weakened newborns - in 19%.

Diagnostics and timing

Prenatal diagnosis Deviations in fetal development are a complex and capacious process. One of the most important stages-, which is a set of examinations prescribed to pregnant women at 12, 20 and 30 weeks. Typically, this is a blood test for the presence of biochemical serum markers of chromosomal disorders. Typically, checking the fetus for pathology includes the following activities.

Blood tests

I trimester (double test):

• free β-subunit (its concentration) of hCG;
• PAPP-A: plasma protein A.

II trimester (triple test for fetal pathology):

• either total hCG is detected, or, as in the first trimester, the free β-subunit of hCG;
• α-fetoprotein (AFP protein);
• free estriol (unconjugated).

An ultrasound is a mandatory addition to blood tests. Evaluation of results is always comprehensive. However, a blood test for fetal pathology, coupled even with an ultrasound, cannot give a 100% guarantee, therefore, if abnormalities are suspected, invasive diagnostic methods are performed: chorionic biopsy and cordocentesis.

Chorionic villus biopsy

This is obtaining chorion tissue for the detection and prevention of chromosomal diseases, carriage of chromosomal abnormalities and monogenic diseases. It is performed in the form of a puncture of the uterus, which can be performed through the abdominal wall, vagina or cervix with special forceps or an aspiration catheter.

Those parents who want to know how to determine fetal pathology in the early stages can use this analysis, since its main advantage is that diagnostics can be performed already at 9-12 weeks, as well as quickly obtaining results (2-3 days). Indications:

• age over 35 years;
• the presence of a child with congenital malformation, monogenic, chromosomal diseases;
• heredity of chromosomal abnormality, gene mutation;
• at 10-14 weeks of pregnancy, according to echography, the thickness of the collar space is more than 3 mm.

This test for fetal pathology is quite painful and can provoke bleeding, but with experienced medical personnel everything goes without complications.

Cordocentesis

This is a method of obtaining umbilical cord (cord) blood from a child for research. It is usually performed in parallel with amniocentesis (analysis amniotic fluid). Possible no earlier than 18 weeks.

Under infiltration anesthesia, a puncture is made through the abdominal anterior wall with a needle and pumped out of the umbilical cord vessel required amount blood. Such examination of the fetus for pathologies can reveal chromosomal and hereditary diseases, Rhesus conflict, hemolytic disease.

Ultrasound

One of the most accurate and reliable diagnostics is ultrasound examination. Many parents are concerned about which fetal pathologies can be detected during pregnancy by ultrasound, and which ones may remain, as they say, “behind the scenes.”

Ultrasound at week 12 reveals:

• CNS defects (anencephaly);
• absence of the peritoneal anterior wall (gastroschisis);
• pathology of the fetal spine;
• umbilical hernia (omphalocele);
• absence of limbs;
• Down syndrome.

At week 20, almost all visible pathologies of the fetus can be diagnosed on ultrasound. This is explained by the fact that most of the baby’s internal organs and systems are already well formed.

At week 30, an ultrasound examination can only confirm or refute data obtained by other methods (using a blood test, cordocentesis, chorionic villus biopsy).

Now - about what fetal pathologies ultrasound does not detect:

• blindness;
• mental retardation;
• deafness;
• minor organ defects in the fetus - obstruction of the liver ducts, defects of the heart septum;
• genetic diseases: Duchenne myopathy, cystic fibrosis, phenylketonuria;
• chromosomal pathologies of the fetus - Edwards, Patau, Turner syndrome.

However last group Of these deviations, doctors still do not escape the attention of doctors, since they can be identified by testing the pregnant woman’s blood for fetal pathology and other diagnostic methods.

A young mother herself cannot feel any symptoms that something is wrong with her baby. Only a set of diagnostic measures at different stages of pregnancy can reveal abnormalities. Thus, signs of fetal pathology in the early stages, detected by ultrasound, should be visually noticeable. These are external deviations in its development: the shape of the skull, size ratio, features of skin folds, etc.

Unfortunately, there are cases when a child is born with pathologies that were not detected prenatally. This happens either due to inexperience and lack of professionalism medical personnel, or due to malfunction or dilapidation of ultrasonic equipment.

Data. Thanks to ultrasound, up to 80% are detected on time congenital pathologies in the fetus, of which in 40% of cases pregnancies are terminated due to severe defects leading to disability or incompatible with life.

At-risk groups

There is a group of women who fall under the most close attention geneticists, since the risk of developing abnormalities is very high. They have mandatory Blood is taken to determine fetal pathology and other diagnostic measures are carried out at different stages of pregnancy. These are the following cases:

• age over 35 years;
• if the family already has a child with a pathology;
• previous miscarriages, stillbirths, missed pregnancies;
• heredity (if one of the parents has Down syndrome);
• long-term use of strong medications during pregnancy;
• the effect of radiation on the mother's body.

If a woman is at risk, she is given a detailed consultation on how to find out if the fetus has pathologies, and all necessary measures are prescribed for this. The main purpose of such screenings is to find out whether the child can be helped and whether such a pregnancy should be left until delivery.

Attention: radiation! If a young mother has been exposed to radiation, she must inform the doctor about this, since it is for this reason that children are most often born with irreversible and incorrigible external deformities.

Forecasts

Further developments largely depend on the period at which fetal pathologies are detected (the earlier, the better) and what kind of abnormality was diagnosed. The doctor can only give advice, but the parents themselves make the decision.

If the genetic mutation is strong and entails the inevitable death of the child (in utero or in the first year of life), abortion is proposed. If external deformities are few, modern plastic surgery works wonders, and the child in the future may look the same as other children. Each case is too individual and unique, and therefore requires a special approach.

If pathologies of fetal development have been identified, parents should first of all listen to the opinion of doctors. If the deviations are too serious and will make the baby’s life unbearable in the future, and at the same time the young couple has every chance of conceiving a healthy child next time, doctors suggest termination of pregnancy. Each case is unique and requires an individual approach.

The right decision can be made by weighing all the pros and cons. You must not panic or despair: this will only make the situation worse. Modern medicine works wonders, and one must rely entirely on professional opinion an experienced doctor who knows a lot about this.