Prenatal tests - what should the future mother know about them?

This article describes modern methods of research of pregnant women: invasive and non -invasive prenatal tests.

Pregnancy is the best nine months that a woman spends in anticipation of her baby. A sense of joy and happiness overflows, and I want to share these emotions with everyone around.

Now it is necessary to carefully take care of your health - with the aim of proper development of the child. For this, there is a prenatal screening, thanks to which it will be possible to exclude any deviations from the norm associated with pregnancy, as well as monitor the state of health of the developing fetus.

Prenatal tests are invasive, non -invasive: what is it, what does a future mother need to know about them?

Each time you visit a doctor, in addition to a general examination, a specialist can recommend additional tests. They are divided into mandatory and recommended research. For many women, invasive studies are mandatory - this is an urgent need. Such methods are traumatic and are associated with the puncture of the uterine wall and the fence of the genetic material of the fetus for analyzes.

At present, such unpleasant procedures are an alternative - non -invasive prenatal tests (NIPT). What it is:

• The latest modern methodology for examining pregnant women.
• I appeared in Russia five years ago. Until that time, pregnant women with suspicions of chromosomal pathologies were sent to geneticists who conducted traumatic invasive examinations.
• This method allows you to give an accurate answer to whether the child is healthy at the fetus.
• This is one of the most accurate studies of pregnant women (200 times more likely to determine the pathology in the early stages of pregnancy).
• A non -invasive prenatal test allows you to do an analysis for genetic deviations in the fetus by the blood of the mother.
• At the 9th week of pregnancy, blood cells enter the blood of the mother. They are distinguished by discovering the child’s DNA to conduct a detailed genetic analysis.

What a pregnant future mother should know about non -invasive prenatal tests:

• District gynecologists do not direct women to prenatal diagnostics, due to the fact that this service is paid.
• Such testing on a paid basis can only be done in a private prenatal center.

According to recommendations, all pregnant women, regardless of their age, may be offered prenatal screening tests for the most common malformations and chromosomal aberrations (abnormal amount of chromosomes in the fetus). Read more about invasive and non -invasive prenatal tests further.

The results of invasive and non -invasive genetic prenatal tests: terms, how is the study conducted?

These tests include the PAPP-A test, invasive and non-invasive genetic prenatal tests. Here's what the expectant mother needs to know about them:

It is worth knowing: At every visit, you will be weighed with a midwife or doctor. Maintaining normal body weight during pregnancy is a very important factor that affects the health of the developing fetus.

If, on the basis of the abnormal results of prenatal screening diagnostics, it is possible to give birth to a child with a genetic defect, the next stage of diagnosis is invasive testing. These tests include:

Amniocentesis

• The test consists in piercing the amniotic cavity through the skin on the patient's stomach to take an example of amniotic fluid.
• This procedure can be performed after the 14th week of pregnancy (early amniocentesis) or between the 15th and 20th weeks of pregnancy (late amniocentesis).
• It is called invasive, since it is associated with the risk of miscarriage at 0.5-1%.

Biopsy of the villi chorion

• It is usually carried out between 8 and 11 weeks of pregnancy, although it can be performed by 14 weeks.
• The test consists in taking a fragment of the chorion (trophoblast) for transvaginal research.
• It is burdened with the risk of gestational loss comparable to amniocentesis.
• The advantage of the method is the fast, compared with amniocentesis, obtaining the result (after about 48 hours).

Cordocentesis

• The procedure is carried out between the 18th and 23rd weeks of pregnancy and consists in selecting 1 ml of blood from the umbilical vein using a needle introduced through the patient's abdominal wall.
• Complications are found as a percentage similar to the previously described procedures (1-2% of cases).
• The most common are: miscarriage, premature birth, bleeding (usually passing), intrauterine infection, periodic heart arrhythmia, intrauterine death of the fetus.

PAPP-A test

• This test includes the determination of PAPP-A protein and a free subunit-HCG in the blood, as well as an ultrasound and ultrasound examination in the first trimester with the assessment of markers of genetic defects in the fetus by a certified doctor.
• Papp-a It is a very good screening test for determining the risk of Down syndrome, Edwards syndrome, Patau syndrome and central nervous system (central nervous system).

A special computer program will calculate such a risk based on the information received:

1. Pregnant age.
2. Fruit biometric parameters, estimated during ultrasound.
3. Biochemical indicators of the blood of a pregnant woman (PAPP -A protein and free subunit -HCG).

Dates of the test PAPP-A:Between the 11th and 13th pregnancy week.

The results of such a genetic prenatal test

• The test does not reveal everything 100% cases of trisomy and other fetal pathologies.
• The sensitivity of the dough detection syndrome is approximately 90%, while Edwards syndrome and Patau syndrome exceed 90%.
• Incorrect result The test does not immediately mean the disease in the fetus, but indicates an increased risk of chromosomal deviations in the fetus. In this case, your doctor will direct you to further - invasive prenatal tests, the description of which can be found later in this article.
• High risk It may also indicate another pathology during pregnancy, for example, the development of hypertension or preeclampsia, gestational diabetes, and therefore it is advisable to provide a pregnant woman with special care.
• Good test result It means that the risk of fetal trisomy is low, but it does not exclude 100%. In this case, invasive tests are usually not recommended.

Non -invasive genetic test: conduct, terms, results

• A new generation of premodic test, which determines the risk of trisomy of chromosomes 21, 18 and 13 The fetus (Down syndrome, Edwards and Patau).
• A small blood sample (10 ml) of the future mother is necessary for the test, plasma contains the genetic material of the child (the so -called extracellular embryonic DNA).
• The identification of genetic deviations in the fetus exceeds 99%. As a result, many pregnant women can avoid invasive tests that risk certain complications.
• The test can be carried out between 10th and 24th Weekly pregnancy, you do not need to specially prepare for it, you do not need to fast.

Test results usually available during 10-14 working days.

Remember: Only the doctor has the right to the correct interpretation of the results of the described tests. You yourself cannot correctly evaluate the risks and make a diagnosis.

Other tests before childbirth by week of pregnancy

All of the above prenatal tests are held between 10th and 24th Weekly pregnancy. At the beginning of pregnancy, a gynecologist is examined. This specialist conducts his tests, evaluating risks and assigning the simplest blood tests and not only.

The first gynecological visit should take place between 7 and 8 weeks of pregnancy. Then the future mother should pass a number of mandatory tests:

• General and physical examination: measurement of blood pressure, determination of body weight and height.
• Obstetric examination using a gynecological mirror.
• Cytological smear from the cervix (in the absence of such an examination over the past six months).
• Examination of the mammary glands.
• Assessment of the risk of pregnancy.
• Mandatory laboratory tests: blood type, immune antibodies of blood groups, morphology, urine analysis and urine precipitation, glucose on an empty stomach, test for syphilis.
• Recommended laboratory tests: HIV, HCC test, determination of antibodies against rubella and toxoplasmosis.

With every visit, the gynecologist will also recommend a healthy lifestyle for you. Examinations that the doctor should recommend to you at the first visit:

• Dentist consultation.
• Consultation of a specialist in related diseases (with a cardiologist, nephrologist, ophthalmologist, etc.).
• Ultrasound in the early stages of pregnancy.
• Additional laboratory tests: TSH, HBS antigen.

11-14 weeks pregnancy and 15-20 weeks Pregnancy:

• In subsequent visits, in addition to the general examination of the obstetrician in the gynecological chair, an ultrasound of pregnancy will also be carried out with the assessment of risk markers of genetic defects.

21-26 weeks pregnancy and 23-26 weeks Pregnancy:

• During this time, the child in your stomach is becoming more and more.
• In this regard, during a visit to the doctor’s office, they will also listen to the heart activity of the fetus and make an ultrasound of the fetus.
• This will assess the child’s anatomy with an accurate assessment of the anatomy of the heart, as well as identify possible development defects.

Between 23 and 26 weeks Pregnancy:

• Diagnosis of gestational diabetes is carried out - an oral test for a glucose load of 75 g, on an empty stomach.
• Diagnosis of toxoplasmosis (in the case of a negative result from the presence of antibodies in the first trimester of pregnancy).

27-32 weeks Pregnancy:

• You still have time to prepare for childbirth.
• The midwife and the doctor may recommend you attend lectures for expectant mothers.
• During a control examination, the doctor, as a rule, measures the weight of your body, blood pressure, evaluates the current risk of pregnancy, listens to the heart of your child and recommends mandatory laboratory tests - blood test, urine analysis and evaluating the presence of immune antibodies.
• During this period, another ultrasound examination should be carried out - a test in the third trimester, which will allow to evaluate whether the development of the fetus and the prevailing conditions in the abdominal cavity are normal.

33-37 weeks pregnancy and 38-40 weeks Pregnancy:

• Between the 33rd and 40th weeks of pregnancy, the doctor-in addition to gynecological examination, assessing the main life parameters, assessing body weight and pelvic sizes-will evaluate the activity of the fetus and listen to cardiac activity.
• The doctor will check the results of the tests.
• At the 34th week of pregnancy, during the usual gynecological examination, the smear from the vagina will be collected for referral to hemolytic streptococci.
• This is an important test - if the result is positive, that is, in your reproductive tract, such streptococci are present, during childbirth you will receive preventive antibacterial therapy so that the infection does not develop.

Between the 37th and 40th week The doctor will also try to determine the expected mass of the fetus by performing measurements during an ultrasound examination.

After the 40th week You will be sent to the hospital for KTG - a graphic recording of the heart activity of the fetus and reduction of the uterus.

Prenatal tests: risk groups

The need for prenatal tests can occur even in healthy mom and dad. But there are categories of future parents who need to carry out prenatal testing or preferably.

At-risk groups:

• Pregnant patients who were done by mandatory basic examinations, and their results spoke about the increased risk of the birth of a baby with Down syndrome, Patau syndrome or other chromosomal pathologies.
• Pregnant patients in whom the previous pregnancy ended with the birth of a baby with chromosomal pathological changes, a miscarriage in an early stages or fruit.
• Pregnant patients over the age of 35 years - eggs have a feature of aging along with the age of a woman. The reproductive function of the eggs worsens, so the risk of crumbs with chromosomal abnormalities increases.
• Pregnant patients who doubt and do not know who the father of the child is, and patients who are in close -related marriage.
• Future mom or dad, having an alcohol-dependence history, even treated. Such bad habits cause a mutation at the genetic level, a deterioration in the childbearing function, both in women and men, which leads to the development of chromosomal disorders in the unborn child.

It's important to know: A woman can undergo a prenatal study at will. For this, the direction of the genetic doctor or other specialist will not be needed.

Prenatal tests: contraindications

Despite the fact that non-invasive prenatal tests are a simple examination, there are still contraindications for its conduct. Testing is not carried out in such cases:

• If the gestational age is less than nine weeks. At this time, blood cells in the bloody system of the fetus cannot be determined. Due to the fact that the material for analysis of DNA is unrealistic, then the examination is not appointed up to nine weeks.
• If a pregnant patient has multiple pregnancy. When gesturing twins, the test can still be done, and with multiple pregnancy, it is difficult to identify the DNA of each of the fruits.
• Such diagnostics are not carried out surrogate mothers, since by the blood of a woman who is not a true biological mother, it will not be possible to identify the child’s DNA without errors.
• If the patient became pregnant as a result of IVF. It is also impossible to identify the child’s DNA if the pregnancy occurred as a result of fertilization of a donor egg.

NIPT is not performed for women who were made bone marrow transplantation or blood transfusion.

Invasive and non -invasive prenatal tests: pros and cons of

The advantages of invasive prenatal tests have long been known to all experts of obstetrics and gynecology. With their help, genetic diseases of the fetus in the early stages of pregnancy can be detected. But such methods have significant disadvantages:

• The injury of a pregnant woman
• The risk of termination of pregnancy.
• The risk of infection entering the intrauterine cavity.

But modern pregnant women may no longer be afraid of painful invasive tests, since they were replaced by another diagnostic method. Advantages of NIPT:

• Safe procedure for mother and child
• Lack of trauma
• High performance
• No need to carry out special preparatory procedures for the test

There are few disadvantages of this method of diagnosis:

• High cost of examination.
• A small number of centers in Russia that make such an analysis.
• Many scammers who pretend to be leading Russian genetic laboratories.

In the Russian Federation there are still few clinical centers that perform non -invasive testing of the health of the future mother.

Where to hand over a non -invasive prenatal test?

As mentioned above, in Russia there are still few clinics that perform such blood tests. Such leading clinical centers of the country are engaged in this:

• Genomed
• Genetico
• Genoanalyst
• Eco-clinic

These tests can also be carried out in regional prenatal centers, genetic centers and family planning centers if they have their own specially equipped laboratory with all the necessary reagents. There are no such centers in small cities. Therefore, pregnant patients have to travel to regional cities and near regions.

The cost of prenatal test

NIPT is a paid service. Its cost depends on the type: from 25 to 60 thousand rubles. The most economical option is a test with the definition of a standard minimum set of chromosomal pathologies. The most expensive test for pregnant women makes it possible to determine even the health of the fetus conceived with IVF. The effectiveness of such an analysis will be higher than that type of prenatal test.

Invasive and non -invasive prenatal tests: reviews

It is worth noting that there are few reviews about the non -invasive method of prenatal diagnosis, since it has not been widespread. But women note the high accuracy of the results and therefore not at all sorry for the money invested in the passage of this procedure. Here are reviews about invasive and non -invasive prenatal tests:

Olga, 22 years old

At first I did NIPT. The result was such that other diagnostic methods had to be done. As a result, I am satisfied with the test, since the result is accurate, it is not at all painful and safe for the baby.

Alla, 29 years old

This is my first pregnancy. At first I made a non -invasive prenatal test. The result was negative, due to which the need for invasive and other studies disappeared. I am satisfied that you do not need to suffer from pain and worry about the baby after invasion.

Svetlana, 38 years old

During the second pregnancy, two years ago I was appointed an invasive research method. I read on the Internet what kind of procedure it was and scared. I decided to make a non -invasive prenatal test first. The result is negative. I refused to do other research and do not regret it: it does not hurt, and most importantly safe for the child.

Video: Non -invasive prenatal genetic test Prenetix