Department of prenatal diagnosis

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Prenatal diagnosis is the most effective means of preventing hereditary pathology, allows you to move away from the probabilistic prognosis and unambiguously solve the issue of possible fetal damage. Prenatal diagnosis of congenital malformations and chromosomal diseases is carried out strictly at the recommended time of pregnancy and only at the expert level, which serves as an early detection of pathology and determines the choice of optimal obstetric tactics in the interests of the family. Since 2012, a new procedure for mass prenatal screening of pregnant women for congenital disorders of fetal development has been introduced.

Examination of pregnant women includes mandatory screening ultrasound examinations:

• within 11-13 weeks, 6 days (1 screening)
• in terms of 19-21 weeks (2 screening)

Ultrasound examinations are carried out in the State Medical Institution of the RM "MRKPC" for all pregnant women observed in the Republic of Mordovia at the terms of 11-13 weeks, 6 days and 18-21 weeks, as well as confirmatory diagnostics in case of detection of fetal malformations. Ultrasound examinations are carried out by appointment.

Noninvasive combined prenatal screening combines two main methods-ultrasound and biochemical screening. At the gestation period of 11-13 weeks and 6 days, a pregnant woman is sent to the State Medical Institution of the RM "MRKPC" with a standard referral coupon issued by an obstetrician-gynecologist of a women's consultation. With a passport and an MHI policy, for employees of law enforcement agencies (the Ministry of Internal Affairs, the Federal Penitentiary Service, the FSB, etc.), have photocopies of the passport, an employee's certificate, a referral from a departmental polyclinic, of the prescribed form. No special preparation is required before the study. a light breakfast is possible. In the department of prenatal diagnostics, ultrasound is performed on a Voluson E8 expert class device by an expert doctor who has undergone special training, has an international certificate, and also annually confirms his qualifications.

During this important study, measurements are carried out: coccygeal-parietal size, collar space, nasal bone, pulsation index in the venous duct, fetal heart rate, ultrasound Doppler examination of the uterine arteries with determination of the pulsation index, transvaginal ultrasound cervicometry. In addition, gross malformations of the fetus are excluded (megacystis, omphalocele, diaphragmatic hernia, CHD-atrioventricular canal, holoprosencephaly, acrania, reduction defects of the extremities). In the treatment room, blood is taken for maternal serum markers (pregnancy-related plasma protein A (RARP-A) and free beta-subunit of chorionic gonadotropin).

If the doctor informs you that you came to the ultrasound too early, then the study should be repeated during the period specified by the doctor.

Ultrasound is absolutely safe for you and your baby. The danger is not repeated ultrasound, but the lack of reliable information about the health of your baby.

Ultrasound data, biochemistry, a variety of individual parameters (race, presence of chronic diseases, number of fetuses, body weight, bad habits, etc.) are introduced into a special computer program "Astraia", which calculates the risk of Down syndrome, trisomy 18 and trisomy 13 chromosomes, the risk of fetal growth retardation, premature birth and preeclampsia. The risk calculation algorithm underlying this program was developed by the international association "Fetal Medicine Foundation" and is used in all European countries, as well as in countries of other continents. The accuracy of prenatal screening (detection rate) for Down syndrome is 85-95%.

The threshold value is a risk of 1:100 (1%). If the result is 1:101 or more, then you belong to a low-risk group and your examination data is transmitted to the doctor of the women's consultation. Most women who have undergone noninvasive prenatal screening fall into the low-risk group. This is not an absolute guarantee that your child will not have Down syndrome, it's just that the probability of this is extremely small in order to offer you to undergo an invasive prenatal diagnosis. In very rare cases, a born child may have Down syndrome. This is called a false-negative result. Non-invasive prenatal screening cannot guarantee the exclusion of all possible malformations in your child.

In case of detection of a high risk for chromosomal pathologies of the fetus, according to a comprehensive examination, within 2-3 days, a woman is invited to receive a geneticist in a medical and genetic consultation at the mobile phone indicated to her.

In case of a high risk (1/100 and higher) of fetal growth retardation, premature birth and preeclampsia, a pregnant woman is referred for consultation by an obstetrician-gynecologist of the GBUZ RM "MRTSKB" for further monitoring of the course of pregnancy in order to prevent the above complications.

Remember that prenatal screening in the 1st trimester is a highly effective method of early diagnosis, which is primarily aimed at identifying incurable pathology in the unborn child. It is carried out in the interests of the family, realizing the right of parents to be informed about the course of pregnancy and the condition of their child.

Dear women, you should know that the presence of a high risk does not mean that your child has a chromosomal pathology

To confirm the diagnosis of chromosomal pathology in the fetus, an additional examination is required - an invasive prenatal diagnosis.

The following invasive procedures are performed in our center:

• chorionic villus biopsy at 11-14 weeks
• placenta biopsy at 15-18 weeks
• cordocentesis at 16-19 weeks

The invasive manipulation is carried out by a specialist obstetrician-gynecologist who owns invasive diagnostic methods, with the participation of an ultrasound diagnostics doctor, a cytogenetic laboratory technician.

The risk of possible complications after these examinations does not exceed 1%.

The required scope of examination for invasive prenatal diagnosis:

1. general blood test (hemoglobin, platelets, clotting, bleeding) - the reliability of the analysis is 10-14 days;

2. general urinalysis (the reliability of the analysis is 10-14 days)

3. smear on gn and the degree of purity (the reliability of the analysis is 10-14 days)

4. blood sugar test

5. blood test for RW, HIV, hepatitis B and C.

6. blood group and rhesus factor (a patient with Rh-negative blood group must have a blood test for the presence of antibodies to rhesus factor - the validity of the analysis is 7-10 days and her husband's blood test for blood group and rhesus-factor).

7. ECG

8. consultation of a therapist

9. according to indications, consultation of an endocrinologist, cardiologist.

The results of the study are issued to the MGC after cordocentesis in 7-10 days, a biopsy of the chorion and placenta – in 7-10 days. If any abnormality of development and chromosomal pathology is detected in the fetus, the pregnant woman is sent to a prenatal consultation, where the family is informed about the diagnosis, prognosis of the disease, and also receives recommendations for further management of pregnancy.

At the gestation period of 19-21 weeks, an ultrasound examination is performed to detect malformations and echographic markers of chromosomal diseases, the condition of the placenta, the amount of amniotic fluid.

Also, in the medical and genetic consultation, a confirmatory ultrasound diagnosis of fetal HPV detected in other medical institutions is carried out.

Our UZD specialists have an international FMF certificate.

1. Julia A. Grabatova - Candidate of Medical Sciences - doctor of the highest qualification category.

2. Astashova Olga Aleksandrovna is a doctor of the first qualification category.

3. Irina E. Cherapkina is a doctor of the first qualification category.

4. Elizaveta Igorevna Sarantseva is a doctor of the first qualification category.

Nurse:

1. Korotina Galina Nikolaevna

2. Isayeva Lyubov Leonidovna

Reception hours: daily from 8.00 to 15.48 in the offices №3, №4, №6