How did it all start?
The Ministry of Health of the Russian Federation has prepared a draft order that establishes a list of medical
Indications for termination of pregnancy, includingincluding the active phase of tuberculosis, rubella before the 20th week of pregnancy, disease caused by the human immunodeficiency virus (HIV) stage IV, mental and behavioral disorders associated with the use of psychoactive substances, schizophrenia, inflammatory diseases of the central nervous system, renal failure, congenital absence limbs, specified in the document.
In addition, the medical indication is the state of physiological immaturity of a pregnant woman until the age of 15 years.
In this case, the decision on abortion is made by a council of doctors individually for each pregnant woman, the stage, form, degree and phase of the disease are taken into account, the document emphasizes.
What's wrong with the new idea of the Ministry of Health?
According to the project, from indications for interruptionpregnancy officials can rule out malformations of the fetal nervous system. We are talking about anencephaly, microcephaly, hydrocephalus, anomalies of the spinal cord, disorders of the respiratory system, digestion, genitals, urinary system (except in the case of a single kidney), musculoskeletal system (except for the absence of bones) and other congenital anomalies. A number of syndromes are also mentioned in the document. In addition to the well-known Down syndrome, Edwards, Patau, Turner and other syndromes can be excluded from the list of indications for abortion.
Simply put, if the amendments are adopted, a woman will have to bear a fetus and give birth to a child, even if she knows that he is not viable or will appear with a profound disability.
We will tell you more about syndromes that can be excluded from the list of indications for termination of pregnancy.
How do I get chromosomal abnormalities?
Chromosomes are thread-like structuresin cells that contain genes. Genes carry the instructions needed to create every part of a child's body. When an egg and sperm come together to form an embryo, their chromosomes join together. Each child receives 23 chromosomes from the mother's egg and 23 chromosomes from the father's sperm—for a total of 46. Sometimes the mother's egg or the father's sperm contain the wrong number of chromosomes. When the egg and sperm come together, this error is passed on to the child.
Edwards syndrome
Trisomy 18 - or trisomy 18 on chromosome - a chromosomal abnormality. It is also called Edwards syndrome, after the doctor who first described it.
"Trisomy" means that the child hasan extra chromosome in some or all of the cells in the body. In the case of trisomy 18, the child has three copies of chromosome 18. This causes many of the child's organs to develop abnormally.
A clenched hand with overlapping fingers is characteristic of Edwards syndrome.
There are three types of trisomy 18:
- Complete trisomies 18: lThis chromosome is in every cell in the baby's body. This is the most common type of Edwards syndrome
- Partial trisomy 18.The child only has part of the extrachromosome 18. This extra part can be attached to another chromosome in the egg or sperm (this is called a translocation). This type of trisomy 18 is very rare.
- Mosaic trisomy 18.The extra chromosome 18 is only present in some of the baby's cells. This form of trisomy 18 is also rare.
How many children have trisomy 18?
Trisomy 18 is the secondaccording to the prevalence of the type of trisomy syndrome after trisomy 21 (Down syndrome). About 1 in 5,000 children are born with trisomy 18, and most of them are girls.
This condition is even more common, but many babies with trisomy 18 do not live until the second or third trimester of pregnancy.
The main symptoms of trisomy 18
Children with trisomy 18 are often born very small and fragile. They typically have many serious health and disability problems, including:
- Severe developmental delay
- Cleft palate, clenched fists with overlapfingers that are difficult to separate, small head (microcephaly), small jaw (micrognathia), deformed feet, chest, low-set ears, slow growth
- Defects of the lungs, kidneys and stomach / intestines, various heart defects.
How is trisomy 18 diagnosed?
Doctor may suspect trisomy 18 during ultrasoundpregnancy, although this is not an accurate way to diagnose the condition. More accurate methods take cells from the amniotic fluid (amniocentesis) or the placenta (chorionic villus sampling) and analyze their chromosomes. Often in the early stages of pregnancy, it is not possible to identify Edwards syndrome, like many chromosomal diseases.
After birth, the doctor may suspect trisomy 18based on the face and body of the child. A blood sample can be taken to check for a chromosomal abnormality. A chromosomal blood test can also help determine how likely it is that a mother will have another baby with trisomy 18.
Is there any treatment for trisomy 18?
There is no cure for trisomy 18. Treatment for trisomy 18 consists of supportive care to ensure the child has the best possible quality of life.
What are the prospects for children with trisomy 18?
Because trisomy 18 causes such severephysical defects, many babies with this condition do not live to see birth. About half of full-term babies are stillborn. Boys with trisomy 18 are more likely to be born dead than girls.
Of those infants who survive, less than 10% survive to their first birthday. Children who survive this milestone often have serious health problems that require extensive care.
Patau syndrome
Sometimes it can be very difficult to understand that an unborn child has trisomy 13, also known as Patau syndrome.
What is Trisomy 13?
Trisomy 13 is a genetic disorderwhich occurs in a child when he/she has an extra 13th chromosome. In other words, they have three copies of their chromosome 13 when they should only have two. This occurs when cells divide abnormally during reproduction and create extra genetic material on chromosome 13.
The extra chromosome can come from eithereggs, or from sperm, but doctors believe that the chances that a woman will have a baby with any chromosomal abnormality increases after 35 years.
Extra chromosome 13 causes seriousmental and physical problems. Unfortunately, most babies born with this condition do not live until their first month or year. But some can live for years.
Polydactyly in Patau syndrome
This is because there are two different typestrisomy 13. Babies may have three copies of chromosome 13 in all or only some of their cells. Symptoms depend on how many cells have an extra chromosome.
How is Patau syndrome diagnosed?
The doctor may detect physical signstrisomy 13 during routine fetal ultrasound in the first trimester. Or it can be found in tests such as cell-free DNA screening (NIPT) or PAPP-A (plasma protein A associated with pregnancy).
These are all screening tests.This means they cannot give a definitive answer as to whether the child actually has trisomy 13. They only alert the doctor that the child is more likely to have trisomy 13 and that more tests are needed to confirm. You will most likely need chorionic villus sampling (CVS) or amniocentesis to be 100% sure.
Birth defects
Children with trisomy 13 are often low in weight withbirth. They usually have problems with the structure of the brain, which can also affect the development of their face. In a child with trisomy 13, the eyes may be close-set, as well as an underdeveloped nose or nostrils, and a cleft lip or palate.
Other trisomy 13 birth defects includecleft lip or palate; clenched hands, extra fingers or toes (polydactyly), hernias, kidney, wrist or scalp problems, low-set ears, small head (microcephaly), undescended testicles.
Babies born with trisomy 13 can have many health problems, and over 80% of them live no longer than a few weeks. Those that do can have serious complications, including:
- Difficulty breathing, congenital heart defects, hearing loss, high blood pressure (hypertension)
- Limited intellectual abilities, neurological problems, slow growth
- Pneumonia, seizures, trouble feeding or digesting food
Is there a cure?
There is no cure for trisomy 13 and treatmentfocuses on your child's symptoms. These can include surgery and therapy. Although, depending on the severity of your child's problems, some doctors may wait and consider any measure based on your child's chances of survival.
Doctors cannot predict how long a child will live. Often, babies born with trisomy 13 rarely make it to adolescence
Turner syndrome
Turner syndrome is a rare genetic disordera disease that occurs only in girls. This can cause problems ranging from short stature to heart defects. Sometimes the symptoms are so mild that they are not diagnosed until the woman is a teenager or young adult.
Causes of Turner syndrome
Turner syndrome occurs when a womancertain genes that are usually found on the X chromosome are missing (women have two X chromosomes, men have an X and a Y). Some girls with Turner are actually missing an entire copy of the X chromosome. For others, only part of one containing a specific set of genes is missing.
Studies have shown that 99% of the time a fetus lacks a chromosome, a miscarriage occurs. But in about 1% of cases, these children are born, and they are diagnosed with the syndrome.
Turner syndrome symptoms
Signs of Turner syndrome may appear even beforebirth, and they give parents some idea that their child may be born with the condition. An ultrasound scan of a fetus with this syndrome may show heart and kidney problems or fluid buildup, but not early in development.
At birth or in infancy, girls mayThere may be a number of physical features that indicate this condition. These include swollen hands and feet or height below average at birth, low-set ears and low hairline, arms turned outward at the elbows, short fingers and toes and narrow fingernails and toenails, growth retardation, heart defects, drooping eyelids. ;and etc.
Also, women with this syndrome suffer from learning disabilities, the inability to pass puberty normally (due to ovarian failure, loss of the menstrual cycle, infertility
Complications of Turner syndrome
From birth and continuing throughout a person's life, Turner syndrome can be associated with other health conditions. They can include:
- Heart problems due to its physical condition, hearing loss, vision problems
- Increased likelihood of diabetes and high blood pressure
- Kidney problems, which can increase the likelihood of high blood pressure and urinary tract infections.
- Immune disorders such as diabetesinflammatory bowel disease and hypothyroidism (when your thyroid gland cannot produce enough hormones for your body to function properly)
- Bleeding in the digestive tract
- Scoliosis, which is a curvature of the spine, and osteoporosis, which causes brittle bones.
- Learning disabilities, mental health problems
- Obesity
Diagnostics of the Turner syndrome
If the ultrasound shows something abnormal duringpregnancy, the doctor may want to examine your baby's chromosomes using a karyotype. This test compares chromosomes by arranging them in a row. To obtain samples from your doctor, your doctor may recommend:
- Amniocentesis. This is when the protective fluid that surrounds the baby is taken from the uterus.
- Blood sample. This can help you figure out if your baby is missing all or part of the X chromosome.
- Chorionic villus sampling (CVS). The doctor takes tissue samples from a portion of the placenta for examination. This test is usually done between 10-12 weeks of gestation.
- Cheek scraping or skin sample analysis.
If the diagnosis is not made before or at birth, other lab tests that check hormones, thyroid function, and blood sugar levels can help diagnose it.
Because of the problems associated with Turner syndrome, doctors also often recommend kidney, heart, and hearing exams.
Turner syndrome treatment
Providing medical care often requires a team of specialists that is built around the specific needs of each individual, because cases vary so much.
There is no cure, but most girls willtake the same basic treatments during childhood and adolescence. Use growth hormone injections several times a week and estrogen therapy from about puberty until the woman reaches middle age at menopause. This hormonal treatment can help a woman grow up and achieve sexual development in adulthood.
Almost all women with this condition require fertility treatment to become pregnant. And carrying a child can be dangerous to your health.
How did the Ministry of Health respond after criticizing the new order?
Draft order of the Ministry of Health establishinga list of medical indications for termination of pregnancy, does not cancel abortion at the request of a woman for up to 12 weeks. This was reported to Novaya Gazeta in the ministry.
According to him, the draft order contains onlyan updated list of medical indications for abortion. After 12 weeks, a woman can still terminate a pregnancy for up to 22 weeks for "social reasons" (in the case of rape). If the health or life of the mother or child is threatened, abortion is possible at any time.
The ministry noted that last time the listmedical indications for abortion were revised in 2007. “Taking into account the development of medical science, changes in the approach to the treatment of various pathologies during pregnancy, at present, based on the proposals of all the main freelance specialists in all profiles of medical care, a draft of a new order has been prepared,” she explained.
According to the draft document, the list of indicationsIt is proposed to include renal failure, inflammatory diseases of the central nervous system, the active phase of tuberculosis, rubella before the 20th week of pregnancy, disease caused by the human immunodeficiency virus (HIV) stage IV, as well as schizophrenia and other mental disorders. The draft order has now been submitted for public discussion.
Earlier today, Deputy Chairman of the State Duma Committee onissues of family, women and children Oksana Pushkina called the document "a disaster." She explained her position by the fact that the new list not only shortens the list of medical indications for abortion, but also limits the right of women to terminate pregnancy by this list.
What's the bottom line?
The draft order itself is proposed for publicdiscussions until December 23. Recall that in November, the Ministry of Health spoke out against the exclusion of abortion from the compulsory medical insurance system. According to the department, there is a fairly comprehensive prevention program. Earlier, the chief freelance fertility specialist proposed the creation of special facilities for performing abortions outside the health care system.
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