My wife and I are thinking about having another child. Our first child was born when my wife was 36 years old, she is now 41 years old. I read that the older a woman is, the higher the risk of having a child with Down syndrome. Are there other risks that increase as the mother ages, such as autism or health problems? Can these risks be tested for in early pregnancy in the same way as Down syndrome?

Many modern women, for a number of reasons, prefer to postpone having a child until later in life. Many people want to get an advanced degree and build a career before they have children. Some people want to wait to get married or are getting married a second time. According to statistics, if in 1970 one in a hundred women gave birth after 35 years, now every seventh does so. Although many people choose to give birth later, you are right that as a woman ages, the risk of having a child with Down syndrome increases. The risk of developing other chromosomal abnormalities also increases. In addition to the development of abnormalities associated with the set of chromosomes, women after 40 years of age increase the likelihood of having a child with other health problems. Before listing them, we would like to remind you that most women over 35 years of age have normal pregnancies and give birth to healthy children!

Here are some risks that increase with maternal age:

• Gestational diabetes.
• Preeclampsia.
• Miscarriage.
• Premature birth.
• Problems with the placenta (placenta previa, placental insufficiency).
• Stillborn children.

As for autism, maternal age has no effect on its development in the child. However, some experts believe that the age of the father may play a decisive role here: there is an increased risk of having a child with autism from fathers over 40 years of age. But it is worth taking into account that the development of autism in a child is influenced by the family’s health history and some other factors.

Unfortunately, today there is no way to detect the development of autism and other neurological problems in a fetus. However, there is a non-invasive prenatal screening, which helps to identify abnormalities in fetal development. This method is a breakthrough in modern medicine and has been used since 2012. Previously, doctors relied on screening results, which consisted of ultrasound results and some blood tests. However, such screening only helped to suspect chromosomal abnormalities. For example, his results showed the likelihood of having a child with Down syndrome, but in fact the woman gave birth absolutely healthy baby.

Example of a non-invasive prenatal test

Many doctors still prefer to carry out such screening, and also suggest that pregnant women over 35 years of age undergo amniocentesis or chorionic villus sampling, which give a more accurate result than the screening described above. However, both of these procedures are invasive and in rare cases can lead to miscarriage.
A non-invasive test is currently the most accurate and safe method for detecting abnormalities in fetal development.

Essentially, this test is a regular blood test. To obtain the results, an analysis is carried out of extracellular fetal DNA, which circulates in the mother's blood and has the same value as the child's DNA. In order to carry out the analysis, a woman only needs to donate venous blood. Typically, the test can be performed as early as the 10th week of pregnancy. Such a test is the best option for parents who are concerned that their child may develop abnormalities.

If you really want this baby and are able to conceive, remember that your age should not be a barrier. There are no guarantees in life: a young woman can give birth to a child with health problems, and women over 40 can give birth to healthy children. There is a high probability that your child will be absolutely healthy. Discuss your concerns with your doctor, and be sure to show him your medical records and your wife's previous pregnancy history.

November 27, 2017 Author admin

Becoming a mother after 40 years is decided every year more women. If such a tendency is considered normal in the West, in our country it is criticized and even ridiculed. Strange, isn't it? After all, it seems that at 40 years old a woman leading healthy image life, is experiencing his prime, has a lot of experience and often a good career.

However, childbirth at the age of 40 and after in our country sometimes becomes an unfulfilled desire. Why is childbirth after 40 years not recommended and pregnancy cannot occur? What are the dangers of childbirth in adulthood, and what advantages does it have?

Why is it difficult to get pregnant after 40?

Not only age, but health status, an acquired bouquet of diseases can prevent a woman in adulthood from not only giving birth to a healthy baby, but even becoming pregnant. According to many doctors, women over 35 years of age and above already have a couple of chronic diseases that can worsen during pregnancy. After all, pregnancy is still a big burden even on a young body, not to mention a mature one.

The main reasons why pregnancy does not occur are the following::

• Hormonal imbalance.
• Ovulatory failures.
• Menstrual irregularities.
• Congenital gynecological pathologies.
• Diseases of the uterine mucosa.
• Pathological processes and neoplasms on the ovaries.
• Obstruction of the fallopian tubes.
• Adhesive processes and chronic diseases.
• Diseases not related to the reproductive system.

Diseases can affect the possibility of not getting pregnant as much as carrying the pregnancy itself.:

• Hypertension and hypotension.
• Kidney and liver diseases.
• Problems with the cardiovascular system.
• Pathological processes in the circulatory system.

Due to so many problems, many women after 40 years do not decide to have a child. However, such problems have become much younger and can become an obstacle in a young woman’s path.

Of course, with age, more and more often adult woman Non-ovulatory menstrual cycles are observed, in which the egg does not mature and is released. At the same time, this does not sound like a sentence of infertility. It just takes a woman more time to conceive.

And yet, much still depends on the state of the reproductive system in a man, who may have problems with sperm activity. Therefore, if a woman is planning a pregnancy at the age of 40, she needs not only to visit a doctor to examine the condition of her body. Your partner should also visit the doctor.

What are the dangers of childbirth at 40 and after?

Childbirth in adulthood is associated with many problems that can arise at any stage of pregnancy and during labor for both the expectant mother and her baby. Don't forget that late birth has its advantages. However, it is worth remembering the bad side of the coin in order to be prepared for anything that may happen.

The danger of late labor may manifest itself in the form of the following phenomena::

• Miscarriage. It has been proven that for a woman over 40 years of age the risk of miscarriage is 33 percent, while for a young woman it is only 10 percent. Basically, termination of pregnancy is caused in adulthood by gross genetic disorders in the developing fetus.
• Exacerbation of chronic diseases. For example, diseases associated with blood pressure and kidneys can aggravate the symptoms early toxicosis. They often lead to the development of gestosis in its complex manifestations. For example, in the form of seizures, preeclampsia, which can in turn lead to stroke, coma.
• Development of diabetes in pregnant women. Even insulin injections may be necessary to maintain health. And unfortunately diabetes which made itself felt even before pregnancy can lead to premature birth, placental abruption, development of late toxicosis and aggravate early toxicosis.
• Problems with the placenta. A woman over 35 years of age has a high probability of premature placental abruption, malpresentation, aging, and chronic insufficiency.

Childbirth at 40 years of age often ends in caesarean section. This is due to the fact that mature woman very often there is weak labor activity, a high probability of soft tissue rupture. talk about natural childbirth after a caesarean section, if a woman has decided to give birth not for the first time, it is simply not advisable. No competent doctor would dare to undertake such an adventure.

A number of complications that may arise also affect the baby himself. For example:

• Risk of chromosomal abnormalities.
• Congenital defects in appearance.
• Hypoxia during labor.
• High risk of mortality in the first year of life.
• Underweight.

With age, the risk of chromosomal abnormalities that may appear in a child increases steadily. Fortunately, today medicine has stepped far forward and all sorts of risks can be calculated in advance and identified at a short stage of pregnancy. To do this, the woman needs to discuss her decision to have a baby with doctors - a geneticist and a gynecologist, and do not forget to monitor her health.

Giving birth at 40 and after has advantages

Despite the high probability of developing pathological processes, childbirth at 40 years old has a number of positive qualities. It is believed that pregnancy rejuvenates a woman, makes her think positively and be more attentive to her health, as she would in everyday life.

A woman in adulthood already has a certain life experience. She is wiser and more attentive to the child and can give him much more than some young girls. The decision to give birth at 40 does not come spontaneously. It is mostly deliberate and the woman is already ready for all the difficulties that may arise on her way.

Pregnancy and the birth of a baby after 40 years have a beneficial effect on a woman’s body.

Experts noted that the risk is reduced:

• Stroke and heart attack.
• Osteoporosis.
• Diseases of a gynecological nature.
• Infections of the genitourinary system.

It should be recognized that childbirth after 40 years leads a woman to an easier passage through menopause and late menopause. She blossoms and begins to experience a new stage of her life. In terms of energy, a woman in adulthood is in no way inferior to a young girl.

As a result, late pregnancy for a woman is an excellent chance for changes in better side. Don't worry about possible risks, they should be excluded. In this case, giving birth at the age of 40 and after will be an excellent decision for a woman to return to her youth again and experience all the delights of conscious motherhood.

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But when my son was 2 years old, I became pregnant. Didn't start at the right time critical days, and the test showed pregnancy. This news took me by surprise - after all, we were no longer planning children. At that time I was 39 years old and my husband was 41 years old. And family relationships at that time in our family were, to put it mildly, difficult.

I cried a lot at that period of my life, because I understood that no one, not a single person in our family, would be happy about this news. But at the same time, I felt that this child was given to us for a reason.

Photo source: heroine archive

I didn’t tell my husband about my situation right away, only a week later. This news left him confused. He was not at all ready for this and did not speak to me for a whole week. Our relations at that time were very strained.

Only a few people knew about the pregnancy

At 2.5 months I went to get tested at the clinic to register for pregnancy. The gynecologist treated my visit calmly. To her question whether to continue the pregnancy, I answered positively.

Then only I, my husband and my close friend knew about my interesting situation.

Questions about my pregnancy and my child began immediately after the first ultrasound. The ultrasound doctor attached a small photograph to all my medical papers. I didn’t attach any importance to it, because I decided that everyone does this now, and I was even glad at how much progress we had made.

But it turned out that there was no time for joy and jokes. This is a photo of a cervical fold, which is an indicator of pathology - Down syndrome. I donated blood - the result was again not good - there is a high risk of having a child with a genetic disease.

Photo source: heroine archive

I realized the seriousness of the situation when my husband and I went to the office for an appointment with a geneticist. The doctor explained to us that the results of the ultrasound, blood test, my 40-year-old age, my negative Rh factor- all this indicates that the child will be born either with Down syndrome, or with a genetic disease, or both. And in my case, the doctor wanted to convey the full reality of the situation.

The probability was 1:3

When the doctor saw that I had herpes on my lip and asked me a few questions, I read genuine horror in her eyes. She began to explain to us what amniocentesis is and how important it is for me to have it done.

I tell my husband.

the doctor cut off.

Photo source: heroine archive

I still wouldn't go for an abortion

I asked the doctor for the opportunity to talk and discuss everything with my husband not in the office, but in the corridor. There we decided not to do this analysis, but signed up at the reception for the next ultrasound. I understood that if the results of amniocentesis were disappointing for us, I would not have the strength to confront this situation.

The geneticist was outraged by our “irresponsible” decision. But this decision was ours. And we were ready to go to the end.

“Why are you holding on to this child so much?”

I went to the next ultrasound alone, without my husband. The male doctor was very strict and dissatisfied:

This is your first and last pregnancy? Why are you holding on to her so much?!

I understood that doctors have a flow of people, that medicine is about numbers, and doctors actually saw bad situations in their work practice. And I was calm about their attitude towards me. But for me these were not just numbers and indicators, for me this was a person, my child, and already alive!

The doctor moved the sensor over my stomach for a long time and suddenly, unexpectedly for me, he said:

I don’t know where you’re so extreme, but I hope we’ll break through!

This one word “we will break through” was enough to strengthen my confidence that I was doing the right thing.

My mother's faith that my child was healthy grew inside me.

Photo source: heroine archive

She hid her pregnancy even from her parents

The pregnancy proceeded as usual. I hid it from everyone, including my parents. I understood that there would be only one advice - abortion.

Internally, I fought for my child and did not want to waste my energy listening to people's fears and doubts. I decided for myself that I would accept and not abandon any child - healthy or sick. But I drove bad thoughts away from myself - I didn’t study the literature on this issue, I didn’t sit on the forums.

I went into labor calmly. For the first time, I didn’t negotiate with any of the doctors, I didn’t pay anyone. There was peace and tranquility inside me. And with my height of 1 meter 59 centimeters, I gave birth to the largest child in the hospital at that time - 4,830 grams, 58 cm. I gave birth myself, without ruptures or consequences. But the child suffered a birth injury - Erb-Duchenne paresis.

The baby was born large in weight, but according to some medical indicators, he was as mature as a premature baby. They didn’t give me the child right away. He was breathing heavily and spent several days in the incubator.

Photo source: heroine archive

Discharged healthy

A few days later we were transferred to Mother and Child for examination and treatment. The terrible genetic diagnoses were not confirmed! We were examined by highly qualified specialists from this center, and for almost a month we were under the supervision of attentive and sensitive doctors and nurses. They were discharged absolutely healthy.

I spent a month at the Mother and Child center. I shared this time with other mothers, supporting and encouraging them in difficult situations.

Our baby was born special: blue-eyed, fair-haired, and not at all like older children. And only by the age of one year did some common features with my brother and sister become noticeable. And his character is special - the boy is cheerful and playful, affectionate, gentle and very sensitive.

My husband, having been without me for a month, got bored and began to appreciate more the moments when we were together, realizing my role in his life.

Photo source: heroine archive

A mother is the first and often the only person who can save a child’s life. I understood at that moment that this was my responsibility and no one else’s.

After this baby, we had another child, also a boy. Now we have 4 children - Edda, Thaddeus, Felix and Filat. People are not born with many children, they are made. Our daughter is 18 years old, and three sons are growing up, one of whom I had to fight for.

My character has changed a lot thanks to motherhood, and the degree of my responsibility has changed. We have to be more organized, disciplined and patient. There are still internal changes happening in me, because children grow and change, and they are all different.

It's not always simple, but children are happiness for me. I try to appreciate every moment when we are together, and I am glad that we have such a big family.

Are doctors wrong?

Based on ultrasound and blood tests at the end of the 1st trimester, doctors do not give accurate forecasts, they only evaluate the likelihood of having a child with genetic problems. If a special computer program shows that the risk is higher than 1:360, the woman is invited for a consultation at a medical genetic center. About 4 percent of pregnant women in Belarus are at high risk.

Then they are offered to undergo clarifying diagnostics, for example, amniocentesis, when amniotic fluid is taken for examination. Thus, doctors receive cells in which they examine the set of fetal chromosomes and give an almost 100% answer whether the child has a chromosomal disease or not.

Many people are afraid to do this test given the risk of miscarriage. In fact, the risk is small - only 1% - the same as for any pregnant woman without additional procedures. Every 9th woman who has undergone such a diagnosis is now diagnosed with chromosomal abnormalities in the fetus, so doctors consider such a diagnosis justified.

And even after learning about serious illnesses, not all Belarusians decide to terminate their pregnancy, although for medical reasons this can be done up to 22 weeks.

With Down syndrome, the child has 46 chromosomes instead of the normal ones, like everyone else healthy people, there is one more chromosome - 47. Due to the extra chromosome 21, Down syndrome is also called trisomy 21.

When can a child get sick?

Down syndrome is a disease that develops in a child during conception or in the first days after conception. A child cannot develop Down syndrome after birth. That is why it is possible to identify Down syndrome in a child during pregnancy.

How common is Down syndrome?

Down syndrome is the most common chromosomal disorder (a disorder in which the number of chromosomes is abnormal). The second most common chromosomal disease is.

The incidence of Down syndrome is approximately 1 case in 600-800 births.

Who can have a child with Down syndrome?

Any woman can have a child with Down syndrome, even if she and her partner are completely healthy, and there has never been such a disease in the family. And yet, there is a major risk factor that increases the likelihood of having a child with Down syndrome: the age of the expectant mother.

The risk of having a child with Down syndrome increases with the age of the pregnant woman:

• At age 20, the risk is approximately 1 in 1,600 (that is, out of 1,600 pregnant women, 1 will have a child with Down syndrome)
• At 25 years old: 1 in 1300
• At 30 years old: 1 in 1000
• At 40 years old: 1 in 365
• At 45 years old: 1 in 30

The age of the child's father does not affect the risk of Down syndrome. This is explained simply. In women, eggs are present in the ovaries from the moment of birth, which means that during life all harmful factors (radiation, contact with harmful chemicals, smoking, etc.) “accumulate” in them. In men, sperm are renewed every 72 days, so they do not are at risk of accumulation of all harmful factors.

How does Down syndrome manifest in a child?

Basic character traits Down syndrome is dementia and some physical defects (for example, characteristic appearance). Some children may experience accompanying illnesses internal organs, for example, heart defects, hearing loss, kidney underdevelopment, defects digestive system, defects in the development of the skeletal system and others.

Dementia with Down syndrome varies greatly from minimal, when the child is able to study in a special school and even acquire a simple profession, to severe dementia, when the child is practically incapable of learning.

In developed countries, children with Down syndrome are not social outcasts, and parents affectionately call such children special. The attitude of his parents towards the disease has a huge influence on the development of a special child. At proper education, caring and working with a child can achieve very good results.

Approximately 25-30% of children with Down syndrome die in the first year of life. However, on average, people with Down syndrome live 49 years, and some reach 60 years of age.

How to find out if a child has Down syndrome before he is born?

In order for future parents to know what to expect after the birth of a child, a series of examinations are carried out during pregnancy to identify Down syndrome in the unborn child. These tests are called screening for Down syndrome

Normally, human cells contain 23 pairs of chromosomes. One of the chromosomes of each pair is inherited from the father, and the other from the mother. The genetic mechanisms of the development of Down syndrome involve a quantitative disruption of autosomes, when additional genetic material is added to the 21st pair of chromosomes. The features that are characteristic of Down syndrome are determined by the presence of trisomy 21.

The appearance of an additional chromosome may be due to a genetic accident, a violation of cell division after fertilization, or the inheritance of a genetic mutation from the father or mother. Taking into account such mechanisms, genetics distinguishes 3 variants of karyotype abnormalities in this syndrome:
- mosaicism;
- simple (regular) trisomy;
- unbalanced translocation.

Approximately 94% of Down syndrome cases are due to regular trisomy. In this case, three copies of chromosome 21 are present in all cells due to a violation of the separation of paired chromosomes during meiosis in the paternal or maternal germ cells.

About 1-2% of cases of this syndrome occur in the mosaic form, caused by impaired mitosis in only one cell of the embryo, which is at the gastrula or stage. In mosaicism, trisomy 21 of chromosome is detected only in derivatives of this cell. The rest of the cells have a normal chromosome complement.

A form of Down syndrome occurs in 4-5% of patients. In this case, chromosome 21 or its fragment is translocated (attached) to one of the autosomes along with it during meiosis into the newly formed cell. The most common “objects” of translocation are chromosomes 14 and 15, less often – 22, 13, 4 and 5.

Such chromosome rearrangement may be accidental or inherited from one of the parents, who is a carrier of a balanced translocation and has a normal phenotype. In the case where the father is the carrier of the translocation, the possibility of having a baby with Down syndrome is only 3%. If carriage is associated with the mother’s genetic material, the probability increases to 10-15%.

Factors that increase the likelihood of having children with Down syndrome

The birth of a child with this syndrome is not associated with the lifestyle, region of residence and ethnicity of the parents. The only reliably established factor that increases the likelihood of having such a child is the age of the mother.

In particular, if in women under 25 years of age the risk of having a sick child is only 1 in 1400, by 35 years - 1 in 400, by 40 - 1 in 100, by 45 - 1 in 35. This is due, first of all, to an increase the risk of chromosome nondisjunction and decreased control over the process of cell division. However, statistics claim that 80% occur in mothers under 35 years of age. This is because the birth rate is higher in younger women. According to some data, the father's age over 42-45 years also increases the risk of such an anomaly.

If one of the identical twins has this syndrome, the second will have this pathology in 100% of cases. For fraternal twins, as well as sisters and brothers, the possibility of such a coincidence is extremely small.

Other risk factors include the following: maternal age less than 18 years, the presence of people with Down syndrome in the family, carriage of a translocation by one of the spouses, consanguineous marriages, as well as random events that disrupt the proper development of germ cells or the embryo.

Thanks to preimplantation diagnostics, conception using assisted reproductive technologies significantly reduces the likelihood of a child with this syndrome being born to parents at risk.

Down syndrome is a rare genetic disorder characterized by physical and mental developmental delays, often independent of heredity. In most cases, Down syndrome can be determined without resorting to special tests, since the external signs in sick children are the same, many of them can be detected from birth. There is a possibility of determining the birth of a baby with such a deviation during the woman’s pregnancy.

Instructions

Take a closer look at their appearance, because children born with Down syndrome have a number of external similarities with each other that strikingly distinguish them from healthy babies: - small stature that does not correspond to their age; short neck, unnaturally thick for a baby, with folds of skin; - short legs and arms, sometimes with impaired distance between the fingers; - “monkey” fold running across the palm; - undeveloped weak muscles that lead to a sagging abdomen, drooping shoulders; - small, deformed ears; - tongue and mouth of a distorted shape, leading to a distortion of the overall facial expression. The tongue is often out of the mouth; - flat, depressed; - curvature of the teeth, which grow much later than ordinary ones, and in a chaotic order; - white spots on the iris of the eye - Brushwild's spot, which does not affect vision; - Mongoloid narrow eye shape with raised outer corners.

Pay attention to deviations in the baby’s health, since Down’s disease develops complications that should alert parents who are unsure about normal development child: - hearing loss; - heart defect, which can be diagnosed at birth; - visual impairment; - weakened thyroid function; - disorders in the development of the spinal cord; - frequent infectious diseases.

Decide together with the future father of the unborn baby whether you should conduct a series of tests to determine possible genetic and other abnormalities in the development of the child that could lead to the formation of Down syndrome in the fetus. Modern medicine offers a number of tests during pregnancy to diagnose the disease in the early stages: 1. Ultrasound at 10-13 weeks to determine the presence of cervical subcutaneous fluid in the fetus. This method does not give a 100% guarantee, since only a normally developing fetus at such a stage early the neck is visible.2. Biochemical blood test for human chorionic gonadotropin and alpha-feto protein, which are carried out from 10 to 18 weeks of pregnancy. The level of AFP does not always depend on the condition of the fetus; it is influenced by many factors in the mother's lifestyle.3. Amniocentesis is a research-based method amniotic fluid, which can lead to spontaneous abortion, infection of the fetus or mother, damage amniotic sac, to prolonged contractions for 5-6 hours.

With the help of the listed tests and studies, only the possibility with some degree of probability of the presence of Down syndrome in the fetus is determined, but none of them gives 100% certainty. It is likely that the baby in the expectant mother’s belly is quite healthy, and the methods of collecting certain materials from a pregnant woman for testing are unsafe for the health and even the life of the unborn baby.

Sources:

• detection of down syndrome

There is no cure for Down syndrome because it is not a disease, but a genetic condition caused by the presence of an extra chromosome. For this reason, children with Down syndrome are not considered sick or disabled, but rather people with developmental disabilities.

According to the data World Organization Healthcare, one in 700 on the planet is born with Down syndrome. This is not due to any external or internal factors. This ratio does not depend on climate zones, countries, social level, nationality and health of parents, etc. Boys are born with the same frequency. A child with Down syndrome can be born in any family to parents with a normal chromosomal “set”.

Doctors call Down syndrome a genetic accident. The additional 47th determines physiological characteristics, due to which the child develops more slowly than his peers (and sometimes even in a completely different way).

Early diagnosis the presence of an “unnecessary” chromosome is now carried out during motherhood. Doctors assess the risk of giving birth to a baby with Down syndrome using ultrasound and biochemical tests. If the probability is high, expectant mother They are sent for even more in-depth examinations to a geneticist. The diagnosis can be confirmed or refuted by studying the chorionic villi - the outer embryonic membrane - and amniocentesis (“checking” the amniotic fluid).

A preliminary diagnosis of “Down syndrome” can also be made during an examination of an already born child if characteristic features(light weight, narrow eyes, crooked little finger, flat bridge of the nose, always slightly open mouth, etc.). However, chromosomal tests will be needed to confirm.

Despite the fact that Down syndrome is not a disease, diseases such as myopia, heart disease, and problems with hearing and speech often appear along with it. Some concomitant diseases are treated.

It is wrong to consider children with Down syndrome as “mentally abnormal”! They can be taught to speak well, read, write, draw, play musical instruments etc. In this case, the most important thing is not treatment in special institutions, but the “ordinary” children’s life activities. It is more difficult for children with Down syndrome to generalize, prove, reason and focus on anything, but they, for example, have a highly developed visual memory, they easily remember images they see and learn texts.

Sources:

• why is a child born with down syndrome

– a fairly common genetic pathology. All children with this diagnosis have many similar features, so they look very similar to each other. Only a genetic study can definitively confirm the diagnosis.