2 genetic tests in consecutive miscarriages

Miscarriage is always a fear for couples who are preparing to become parents and an obsession, even psychological torment for mothers who have had a miscarriage. So what are the causes of recurrent miscarriages?

Repeated miscarriage is defined as two or more miscarriages. After three miscarriages in a row, should a complete physical examination and tests to find out what is causing the miscarriage?

Here are some of the most common causes that can lead to recurrent miscarriage like:
2.1. Genetic problems Genetic problems that lead to abnormal fetal growth can be a major cause of miscarriage. Either partner or even both may have a genetic predisposition to pass the abnormality on to the fetus. One study reports that 50-60% of all miscarriages during the first trimester of pregnancy are due to chromosomal abnormalities. In this case, conducting genetic testing to find the cause is extremely necessary.

2.2. Abnormal hormone levels Miscarriage can also occur when the lining of the uterus is not fully developed. The end result is that the fertilized egg runs the risk of not having the best environment for nesting and nurturing. This can be attributed to abnormal hormone levels. Women with thyroid and adrenal gland problems and women with diabetes are often at a higher risk of miscarriage due to hormonal imbalances. In addition, elevated prolactin levels can also disrupt the normal growth of the lining of the uterus.
2.3. Structural problems Problems with the structure or shape of the uterus can cause miscarriage, usually by interfering with the implantation of a fertilized egg. Uterine fibroids are noncancerous tumors in the wall of the uterus. Fibroids can cause infertility if they block the opening of the fallopian tube(s) or if their location affects the normal functioning of the uterine lining. The septum, (a fibrous wall that separates the uterine cavity), can be poorly implanted and prone to miscarriage. Another cause of structural problems is exposure to DES, which results in a T-shaped uterus that also contributes to pregnancy loss.
2.4. Cervical problems Another cause of miscarriage is “cervical incompetence,” meaning that the cervical muscles are weakened and cannot close as the developing fetus grows and reaches certain weight, which puts pressure on the opening of the cervix.

2.5. Infections Infections such as measles, rubella, herpes simplex, ureaplasma, cytomegalovirus, and chlamydia can affect fetal development and, in some cases, lead to miscarriage.
2.6. Environmental factors Another possible cause of miscarriage comes from the mother's inhalation of environmental toxins such as the use of marijuana, tobacco, caffeine and alcohol. Most doctors suggest that women limit or avoid their use during pregnancy.
2.7. Immunological causes One type of immune problems that can cause miscarriage are antiphospholipid antibodies. Blood tests are used to detect the presence of these antibodies. If present, medication to help thin the blood may be given. Options are: take baby aspirin (81mg) daily, which usually starts at ovulation and lasts until pregnancy, or Heparin, a drug that is injected and used to thin the blood. Another type of immunological causes of miscarriage are those that prevent a woman's normal protective response to the embryo.

Learn about factor V Leiden (FV) gene mutations Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that leads to thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels.
People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called deep vein thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys.
Factor V Leiden mutation is associated with a slightly increased risk of miscarriage. Women with this mutation are two to three times more likely to have multiple miscarriages (recurrent) or miscarriages in the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (pre-eclampsia), fetal growth retardation, and placental abruption. premature separation from the uterine wall (placental abruption). However, an association between factor V Leiden mutations and these complications has yet to be confirmed. Most women with thrombotic factor V Leiden have difficulty having normal pregnancies.
Factor II prothrombin G20210 (FII) gene mutation status

The prothrombin 20210 mutation, also known as a factor II mutation is an inherited condition that increases your blood's chances of forming dangerous blood clots.
All individuals make the protein prothrombin (also known as factor two) that helps blood clot. However, there are some individuals who have a DNA mutation in the gene used to make prothrombin (also known as prothrombin G20210A or a factor II(two) mutation). They are believed to have an inherited hemophilia (blood clotting disorder) known as prothrombin G20210A. When this happens, they make too much of the protein prothrombin.
Prothrombin G20210A and propensity to clot formation: normally, the protein prothrombin is produced to help with blood clotting and is produced in greater amounts after blood vessels are damaged. So people with a mutation in the prothrombin gene will produce more prothrombin protein than normal. Since there is more prothrombin protein in the blood, this increases the tendency to form blood clots.
Testing for prothrombin G20210A by prothrombin testing is done by taking a blood sample and using genetic testing to look at the prothrombin gene. DNA is isolated from the blood cells and the prothrombin gene is examined for mutations in the DNA code. If a gene change is found (20210th character moved from G to A), the person has a prothrombin (or factor II) mutation.
The methylenetetrahydrofolate reductase (MTHFR) mutation causes hyperhomocysteinemia The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a form of folate called 5,10-methylenetetrahydrofolate into another form of folate called 5-methyltetrahydrofolate. This is the main form of folate found in the blood and is required for the multi-step process of converting the amino acid homocysteine ​​into another amino acid, methionine.

3.2. Karyotype Tests – Chromosomes What is a Karyotype Test? The karyotype test looks at your size, shape, and chromosome number. Chromosomes are the parts of your cell that contain your genes. Genes are part of DNA passed down from your mother and father. They carry information that determines unique characteristics, such as height and eye color.
The normal person has 46 chromosomes, divided into 23 pairs, in each cell. One of each pair of chromosomes comes from your mother and the other from your father.
If you have more or less than 46 chromosomes, or if there are any abnormalities in the size or shape of the chromosomes, it could mean that you have an inherited disease. Karyotype testing is often used to help find genetic defects in a developing baby.
What is the role of Karyotype testing? Humans have 46 chromosomes. Newborns inherit 23 from their mother and 23 from their father. Sometimes, babies have an extra chromosome, a missing chromosome, or an abnormal chromosome. Karyotype testing will see if any of these have happened to your child. The most common things doctors look for with karyotype testing include:
Down syndrome (trisomy 21): The baby has an extra, or third, chromosome 21. This affects how they look and baby's learning. Edwards syndrome (trisomy 18): A baby has an extra 18th chromosome. These babies often have problems and most don't live longer than a year. Patau syndrome (trisomy 13): A baby with an extra chromosome 13. These babies often have heart problems and severe intellectual impairment. Most will not live more than a year. Klinefelter syndrome: If a boy has an extra X chromosome (XXY), the child may go through puberty at a slower rate and may not be able to have children. Turner syndrome: A baby girl has a missing or damaged X chromosome. It causes heart problems, neck and low height. Purpose of Karyotype test

Karyotype tests can be used for more than just birth defects. If you're having trouble getting pregnant or have had multiple miscarriages, your doctor may want to check you and your partner for chromosomal problems.
You can also find out if you have a disorder that can be passed on to your child. Your doctor may also test your baby to see if there is a genetic problem. Also find out the cause of some physical or developmental problems your child or young child has.
Chromosome testing can tell if an infant is a boy or a girl in rare cases. Certain types of cancer can cause chromosomal changes. Karyotype testing can help you get the right treatment.
When is the Karyotype test indicated? Karyotype testing can only be done during certain weeks of pregnancy. Your doctor will recommend which karyotype test is right for you based on how far along you are in your pregnancy and your risks. Your child is more likely to have a chromosomal problem if:
You are 35 or older. You have another child or a family member with a chromosomal disorder. You or your partner have something abnormal in your chromosomes. You have a history of miscarriage or stillbirth. In fact, there are many causes of consecutive miscarriages that come from both active and passive factors. However, when miscarriages occur in a row, it is mostly due to health problems. In this case, the couple should take the initiative to go to the hospital for examination and appropriate treatment.
Vinmec International General Hospital is a prestigious medical unit with a team of doctors with many years of experience in diagnosing and treating problems related to Obstetrics and Gynecology, genetic testing. Currently, the hospital provides many comprehensive maternity services to help couples feel secure to accompany the doctor throughout the pregnancy to have a healthy pregnancy.