In case of a non-developing pregnancy
Free delivery across Russia 12 000 ₽ Available on credit

In case of a non-developing pregnancy

Molecular genetic testing of aborted material for chromosomal abnormalities

Free delivery

Only available in Moscow

12 working days

From the moment the sample is delivered to the laboratory

A medical service

Possibility of tax deduction

Reliable result

Both fetal and maternal tissue screening

Many women experience pregnancy loss. Approximately one in five pregnancies ends in non-developement, spontaneous miscarriage, or stillbirth. More than half of all pregnancy losses are due to chromosomal abnormalities in the embryo. Most often such disorders occur by chance and do not recur in subsequent pregnancies.

Understanding the cause of pregnancy loss helps to assess the risks of recurrence and determine tactics to prepare for the next pregnancy.

Molecular genetic testing reveals chromosomal abnormalities and allows us to understand whether pregnancy loss was an accidental event or whether a more detailed examination of the woman is needed to find the cause.

Chromosomal abnormalities

Approximately half of all early pregnancy losses are due to an error that occurs during the formation of germ cells or at the time of fertilization. As a result of such an error, the embryo receives an abnormal number of chromosomes. This is called a chromosomal abnormality. Usually, chromosomal abnormalities occur by accident. This means that pregnancy loss is not caused by a woman doing something wrong.

Unfortunately, it is impossible to predict or prevent such an event.

Sometimes chromosomal abnormalities can be inherited from parents and lead to repeated pregnancy losses in a couple. This happens when one partner has part of one chromosome attached to the other chromosome. This is called a balanced chromosomal translocation. People with a chromosomal translocation usually have no physical signs or symptoms, but when germ cells (eggs or sperm cells) are formed, some of them have abnormal chromosomes. If an embryo is formed from such germ cells, a chromosomal disorder occurs.

Chromosomes are structures found in body cells that contain the genes that determine a person's physical state.

Normal cells contain 46 chromosomes (23 pairs)

Germ cells contain 23 chromosomes

However, quite often during the formation of germ cells, chromosomes are distributed incorrectly, and the cell may contain not 23 chromosomes, but, for example, 24.

During fertilization, when the egg and sperm fuse together, the two sets of chromosomes are combined. If an egg or sperm cell carries the wrong number of chromosomes, the chromosome set of the embryo will also be abnormal.

Depending on how much the chromosomal set differs from normal, three outcomes are possible:

1. The embryo stops developing before pregnancy occurs. Pregnancy does not occur.

2. The pregnancy occurs, but the embryo develops abnormally. This leads to pregnancy loss.

3. A child is born with a chromosomal syndrome - a severe incurable disease, such as Down syndrome, Edwards syndrome or Patau syndrome.

Chromosomal abnormalities in fetal tissues can occur in women of any age, in any health condition and lifestyle, but the risk of such abnormalities increases significantly with the age of the woman. The risk of spontaneous miscarriage by age:

  1. 9-17% from 20 to 30 years old,
  2. 20% at age 35,
  3. 40% at age 40,
  4. 80% at age 45.

Medical indications

About half of the cases of pregnancy loss in the first trimester are caused by a chromosomal abnormality. Therefore, the test is most relevant for early pregnancy loss. In later pregnancy, chromosomal abnormalities usually result in multiple malformations. If there are no malformations, it is unlikely that the test will reveal a chromosomal abnormality. Therefore, the test is more informative when the obstetrician-gynecologist suspects chromosomal abnormalities in the fetus.

The test will help you understand the cause of pregnancy loss,which will increase your chances of preventing a loss next time. The results of the test should be discussed with your doctor. The test will be most relevant in specific cases:

  1. Termination of pregnancy for medical reasons when multiple fetal malformations are detected;
  2. Repeated pregnancy loss, especially if no testing was done after the previous occurrence.

How it works

Molecular genetic testing of aborted material for chromosomal abnormalities is a medical service performed in our laboratory on the registered F-Genetics platform using the Reproline kit.

During the testing process, we select fetal tissue fragments from the aborted material. We wash them from the maternal cells and isolate a DNA sample, which we prepare for sequencing. We then examine the sample using NGS technology. The whole genome is read; that is, the test affects the entire chromosome, not just parts of it. Thanks to this technology, we can see if any chromosome or its fragment is too small or too large.

We look for chromosomal abnormalities in the sequencing results. If there are segmental abnormalities (changes in the number of copies of a fragment of a chromosome rather than a whole chromosome), we evaluate such an occurance in terms of its significance for the course of the pregnancy. We only include in the test report significant occurrences that may have influenced the non-developement of the pregnancy.

To search for chromosomal abnormalities, it is important to examine fetal DNA. But in the aborted material it can mix with the mother's DNA, and this distorts the result. If we have doubts about the purity of a sample of fetal DNA, we do additional testing and see if there is an admixture of maternal DNA. During the test, we compare the DNA in the sample to DNA from the mother's blood. You can read more about the testing technology in the Paternity sections "How it works" tab.

If the DNA of the embryo and the mother are mixed, we take a new batch of embryonic tissue and repeat the test all over again. In some cases (about 5% of samples), the biological material received by the laboratory does not contain embryonic tissue, but only maternal one. In this case, the analysis cannot be performed, and the laboratory will refund the money.  

What the result says

As a result of the test you will receive data on the chromosome set in the embryo cells: whether it is normal, and if not — how exactly it differs from the norm.

For correct interpretation of the result and understanding of further actions we recommend consult with a geneticist.

The doctor will conclude whether the pregnancy loss was an accidental event and tell you about the individual risks of repeated pregnancy loss. In some cases, the doctor may recommend karyotyping of the couple. This test determines the number and structure of chromosomes. Karyotyping may reveal balanced chromosomal translocation in either parent, a possible cause of repeated miscarriages.

If a chromosomal translocation is detected, the geneticist may suggest in vitro fertilization (IVF) with special genetic testing — preimplantation genetic testing for aneuploidy (PGT-A). This method allows an embryo with a normal number of chromosomes to be selected for transfer into the uterus.

Advantages

Examination of all chromosomes

It is not selected chromosomes that are analyzed, but the entire set. This allows to detect an abnormal number for any chromosome, as well as detect segmental abnormalities from 5Mb in size.

Quick result

The test is conducted in 12 working days after receipt of the sample in the laboratory.

Reliable result

The laboratory additionally verifies that fetal and not maternal tissue has been submitted for testing. For this purpose it is necessary to provide the mother's blood sample.

The presence of living cells in the material is not required

This is important in cases where the pregnancy loss occured some time ago and there are no longer any living cells in the tissue.

This is a medical service

Our reagents and equipment are properly tested and registered as a medical product. Therefore, you will get reliable results and the possibility of getting a tax deduction for this test.

How to undergo the testing

In case of pregnancy loss, collect the material in a clean container and call our courier at 8 800 201-83-46.

+4 °CTissues can be stored in the refrigerator

  1. The collection and preparation of biological material for transport usually takes place at the patient's clinic. We recommend to additionally submit a sample of the mother's blood from the vein into a vial with a purple cap (vial with EDTA).
  2. In some cases, such as surrogacy, the use of donor eggs, organ and tissue transplants, the blood of the biological father is necessary.
  3. It is to make sure that we have fetal and not maternal tissues submitted for testing.
  4. We will transport the material from the clinic to our laboratory ourselves. Please notify us as soon as possible if transportation is needed. A clinic representative or the patient can do this by calling 8 800 201-83-46.
  5. For sample storage and transportation, we recommend using a special preservation buffer from "First Genetics" laboratory.
  6. If our preservation buffer is not available in the clinic, sterile saline can be used. It is recommended to store the material at +4°C.
  7. We carry out the test within 12 working days from the date of receiving the material at the laboratory. We send the results in digital format to the email indicated in the application for the test. We recommend you for interpret the results of the test consult with a geneticist.

I need support

The Light in Hands Charitable Foundation supports anyone who has faced difficulties on the path to parenthood.

Losing a pregnancy can be an extremely difficult and traumatic event, regardless of the timing or circumstances in which it occurred. Allow yourself to process the loss and accept what happened so that you can then move on.

You may experience a range of emotions after pregnancy loss, which is natural:

  • Denial. At first it may be impossible to understand what happened and to believe that it really did.
  • Guilt. You may think about what you could have done differently to prevent the loss of the pregnancy.
  • Anger. Regardless of the reasons why it happened, you may be angry at yourself, your partner, your doctor, or at the will of fate. You may be angry at the unfairness of your loss.
  • Sorrow. You may experience feelings of deep sadness or a strong desire to be with your child. You may imagine what you would do with your child right now.
  • Envy. You may feel very jealous of people who are expecting a baby. You may feel like babies and pregnant women are everywhere around you.
  • Depression. You may develop symptoms of depression, such as a loss of interest or joy in familiar activities. Your eating habits or sleep patterns may change, and you may have trouble concentrating and making decisions.

Other relatives, including the child's grandparents, may be experiencing similar emotions: anxiety, grief, and a sense of helplessness.

Grief and acceptance take time.

Some emotions may pass quickly, or not come at all, and others may linger. Even when you think you've dealt with your loss, you may think back on the situation and feel angry or guilty. It may be hard for you to meet with friends who have children, and that's normal. Don't blame yourself and try to shield yourself from these painful experiences until you feel ready to move on.

Don't shy away from asking friends and family for help and accepting it.

Try to find a support group. Sharing your loss with others who have faced the same situation can help. It can be in-person support groups as well as online interaction. If the process of grieving the loss seems to linger, or if you can't cope with daily tasks, seek professional psychological help.

Many women who have suffered a pregnancy loss go through a successful pregnancy and childbirth in the future.

When the pain of your loss has subsided, you can discuss with your partner whether you are ready for another pregnancy attempt. The next pregnancy can evoke sadness about the loss of the previous pregnancy, but it can also inspire hope for the future.

Pregnancy loss

Women experience pregnancy loss far more often than many people think.

От 10 до 20%of pregnancies end in pregnancy loss

But the real number is even higher, because many miscarriages occur at such an early stage when the woman is unaware of her pregnancy. Most miscarriages are due to abnormal fetal development. And while pregnancy loss is a relatively common occurrence, it doesn't make it any easier. Understanding why it might have happened can help you survive this loss.

Typically, pregnancy loss is a one-time event.

Most women who experience it go on to have healthy pregnancies and births in the future. Less than 5 percent of women experience two consecutive pregnancy losses, and only 1 percent experience three or more. If you experience two or more consecutive losses, it is advisable to find the cause of these occurrences. But even if no cause is identified, don't give up hope. Between 60 and 80% of women with unexplained recurrent pregnancy loss will end up carrying a healthy pregnancy.

60%–80%of women with unexplained recurrent pregnancy loss end up carrying a healthy pregnancy

There are many reasons why a pregnancy stops developing.

And it is not always possible to establish the exact reason for the loss. Most pregnancy losses are not due to something the woman did wrong. And unfortunately, most pregnancy losses cannot be prevented. Hard labor, exercise, being sexually active, or taking oral contraceptives before pregnancy does not cause miscarriages. Early toxicosis also does not affect the success of the pregnancy. Some women who experience early pregnancy loss think it is due to a recent fall, anxiety, or stress. This is not the case in most situations.

Most cases are not due to something the woman did wrong

The major causes are:

1. Genetics

~50%

About half of the cases are related to chromosomal abnormalities in fetal tissues.

2. Certain health conditions in women

These include uncontrolled diabetes, infectious diseases, hormonal issues, peculiarities of the uterine structure, thyroid diseases, antiphospholipid syndrome.

3. Use of certain medications

The use of certain medications, as well as smoking more than 10 cigarettes a day and drinking alcohol in moderate doses may be associated with pregnancy loss. During pregnancy, it is better to avoid smoking and drinking alcohol, not to exceed caffeine intake of more than 100 mg per day (4-5 cups of coffee). Before taking any medication, it is recommended to carefully inspect the instructions regarding the use of the drug during pregnancy. If possible, it is recommended to avoid exposure to occupational hazards.

Most pregnancy losses occur before 12 weeks

Signs of miscarriage may include:

  1. Bloody discharge or vaginal bleedingPain in the abdomen or lower back
  2. Pain in the abdomen or lower back
  3. Fluid or tissue coming out of the genital tract

If a miscarriage has occurred, collect the fetal tissue in a clean container and bring it to your doctor. It is necessary in order to carry out the testing, to try to identify the cause of the pregnancy loss and to assess the risks of a recurrence of such occurrence.

Glossary

DNA

A molecule inside the cells of an organism that carries hereditary information. Hereditary information is encoded in DNA by linking small molecules, nucleotides, which come in four varieties. Information is stored similarly to how we compose text from symbols, but there are only four letters in the DNA alphabet.

Gene

A segment of DNA where the solution to one specific task for a cell, such as a recipe for the production of a particular protein, is stored.

Genome

All the hereditary information in a cell

Mb (megabases)

Mb (megabases) - A unit of measurement of DNA segments, 1,000,000 nucleotides, or the "letters" that make up DNA. In humans, a single gene can range in size from a few hundred nucleotides to several Mb. The genes are not arranged evenly, and the distance between them may be almost nonexistent, or up to tens of Mb. Therefore, the size of a DNA segment is not directly related to its relevance to the life of the organism.

Balanced chromosomal translocation

A rearrangement during which two chromosomes exchange fragments. Normally, this rearrangement does not manifest itself in any way, since the full set of genetic material is preserved. But during the formation of germ cells, the chromosome set is split in half, and as a result, the egg or sperm can have an abnormal, unbalanced chromosome set.

Segmental chromosomal disorder

A chromosomal disorder in which a segment of a chromosome rather than a whole chromosome is missing or excessive in cells. Depending on the size of the segment and which genes it affects, the disorder may not manifest itself in any way, or it may lead to a chromosomal syndrome or embryonic developmental arrest.

Sequencing

Determination of the nucleotide sequence in DNA. Comparing the DNA sequence in a sample to a standard human sequence allows to determine if there is an abnormality in the sample.

Chromosome

The structures in which DNA is stored in a cell. DNA is a long thin molecule. When a cell divides, it needs to divide all the DNA equally between the two new cells. In order to keep the thin strands of DNA from becoming tangled and torn, they are folded into dense, compact bodies called chromosomes. Most human cells have 46 chromosomes, 23 pairs. We inherit one set of 23 from our mother and another from our father. The germ cells contain 23 chromosomes, and when they fuse with a second germ cell, they form a complete set of 46 chromosomes.

Chromosomal abnormality

Any deviation of the chromosomal set from the normal one consisting of 23 pairs of chromosomes.

NGS

Next-Generation Sequencing, high throughput sequencing.

A sequencing technology in which the DNA sequence is simultaneously read for a large number of short segments. These segments are then assembled on a computer to create a complete picture. This technology makes it possible to examine not just a single segment of DNA, but large fragments or even the entire genome in a short period of time.

The advantages at First Genetics

Specialists

Years of experience in genetics, laboratory diagnostics and bioinformatics

Confidentiality

All data is strictly confidential and cannot be passed on to third parties

Technology

The NGS method analyses all chromosomes of the embryo and detects mosaicism and unbalanced chromosomal rearrangements

Security

Extensive control at each stage of testing

Free delivery

Free delivery of biomaterial across Russia

Consulting

You can get an online consultation regarding the results of test

In case of a non-developing pregnancy

Molecular genetic testing of aborted material for chromosomal abnormalities

Call us if you have any questions:
8 (800) 201 83 46
DNA

A molecule inside the cells of an organism that carries hereditary information. Hereditary information is encoded in DNA by linking small molecules, nucleotides, which come in four varieties. Information is stored similarly to how we compose text from symbols, but there are only four letters in the DNA alphabet.

Sequencing

Determination of the nucleotide sequence in DNA. Comparing the DNA sequence in a sample to a standard human sequence allows to determine if there is an abnormality in the sample.

NGS

Next-Generation Sequencing, high throughput sequencing.

A sequencing technology in which the DNA sequence is simultaneously read for a large number of short segments. These segments are then assembled on a computer to create a complete picture. This technology makes it possible to examine not just a single segment of DNA, but large fragments or even the entire genome in a short period of time.

Genome

Вся наследственная информация в клетке

Chromosome

The structures in which DNA is stored in a cell. DNA is a long thin molecule. When a cell divides, it needs to divide all the DNA equally between the two new cells. In order to keep the thin strands of DNA from becoming tangled and torn, they are folded into dense, compact bodies called chromosomes. Most human cells have 46 chromosomes, 23 pairs. We inherit one set of 23 from our mother and another from our father. The germ cells contain 23 chromosomes, and when they fuse with a second germ cell, they form a complete set of 46 chromosomes.

Balanced chromosomal translocation

A rearrangement during which two chromosomes exchange fragments. Normally, this rearrangement does not manifest itself in any way, since the full set of genetic material is preserved. But during the formation of germ cells, the chromosome set is split in half, and as a result, the egg or sperm can have an abnormal, unbalanced chromosome set.

Mb (megabases)

A unit of measurement of DNA segments, 1,000,000 nucleotides, or the "letters" that make up DNA.

In humans, a single gene can range in size from a few hundred nucleotides to several Mb.
The genes are not arranged evenly, and the distance between them may be almost nonexistent, or up to tens of Mb. Therefore, the size of a DNA segment is not directly related to its relevance to the life of the organism.