Genetic screenings
Many parents are certainly very concerned about the diagnosis of chromosomal and genetic abnormalities of the fetus. Fortunately, there are currently several tests that can determine the risks of chromosomal abnormalities in early pregnancy.
1. Combined screening at 11-13+6 weeks. Includes expert ultrasound (determination of ultrasound signs of chromosomal abnormalities, measurement of the thickness of the collar space, etc.), analysis of biochemical blood parameters and a comprehensive risk calculation based on ultrasound data, blood test results and the age of the pregnant woman. A screening test allows you to classify a pregnant woman into a group of high, medium, or low risk of fetal chromosomal abnormalities.
2. In accordance with international standards when detecting high-risk chromosomal abnormalities based on the results of the first screening Depending on the duration of pregnancy, the pregnant woman is offered to perform an invasive procedure - a chorionic biopsy (from week 11) or an amniocentesis (from week 15 of pregnancy). The risk of miscarriages during invasive procedures is less than 1%.
These procedures can be offered regardless of the results of the first combined screening:
- pregnant women who had chromosomal abnormalities in a previous pregnancy;
- patients with a family history of genetic/chromosomal problems;
- pregnant women who have suspected a chromosomal defect during ultrasound examination of the fetus.
Invasive procedures are performed under ultrasound control and are virtually painless. After a chorionic biopsy or amniocentesis, the patient is recommended to limit physical activity for several hours.As a rule, in our clinic, a pregnant woman is monitored in the hospital for several hours after the procedure, and ultrasound monitoring is performed again before discharge.
3. For certain groups of patients, we offer a new diagnostic test to determine fetal DNA in the mother's blood. It is possible to carry it out starting from the 10th week of pregnancy. The test has a high sensitivity (98.6% for Down syndrome), but it has certain limitations – for example, being highly accurate for the diagnosis of trisomy 21, the test does not have the same high sensitivity for detecting chromosomal and genetic abnormalities that can be determined using invasive procedures.
Fortunately, fetal chromosomal abnormalities are rare (according to the literature, from 0.5 to 1% of all newborns may have one or another chromosomal pathology). Nevertheless, the high importance of screening tests is beyond doubt – the EMC prenatal diagnostic specialists will help you determine which test is necessary in your case.
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Doctors
Dmitriy Subbotin
Ph.D. of Medical Sciences
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Nenahov Filipp
Doctor of the highest category
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Saakyan Gayane
Doctor of the first category
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Shpachenko Viktoria
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Borovkova Ekaterina
Doctor of the highest category, Professor, Doctor of Medicine
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Madan Korneliya
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Kovaleva Larisa
Specialist in Gynecological Endocrinology, Ph.D. of Medical Sciences
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Loginova Olga
Ph.D. of Medical Sciences
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Charkhifalakyan Arevik
Head of the Gynecology and Oncogynecology Clinic
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Panfilova Olga
Leading specialist in prenatal fetal diagnosis, Ph.D. of Medical Sciences
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Maximova Yuliya
Head of the Center for Aesthetic and Reconstructive Gynecology, Ph.D. of Medical Sciences
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Dmitriy Subbotin
Ph.D. of Medical Sciences
- Specializes in the treatment of urinary incontinence, uterine body polyps, uterine fibroids, endometriosis, uterine prolapse and vaginal walls, benign ovarian neoplasms, infertility
- Graduated from Perm State Medical Institute
- The author of the method of treatment of bladder prolapse by laparoscopic access
Total experience
32 years
Experience in EMC
since 2025
