To assess the risks associated with the genetic characteristics of each person, at the stage of pregnancy planning, it is recommended to undergo DNA diagnostics for the carriage of hereditary diseases. The first genetic test for spouses who have encountered difficulties in conception is karyotyping. The analysis is submitted once in a lifetime, because a person's chromosome set is unchanged. The result of a karyotype is a kind of genetic passport. Normally, a woman will receive a result of 46 XX, and a man - 46 ХУ.
It is important to know that the carriage of chromosomal abnormalities may not have external manifestations, but cause serious disorders - infertility, miscarriage or even the birth of a child with developmental defects. Often a complete surprise is the receipt by a healthy person of the result of a karyotype with a change in the number of chromosomes or a violation of their structure.
Karyotyping of a married couple is not a mandatory test, but is recommended for patients in accordance with medical indications.
The medical history of patients (missed pregnancies / miscarriages in anamnesis, abnormalities in the karyotype, several unsuccessful IVF attempts, etc.) becomes the basis for recommending pre-implantation genetic diagnosis of embryos (PGD). This procedure allows only genetically healthy embryos to be selected for transfer.
Pre-implantation diagnosis minimizes the risk of having a baby with a genetic disease. In addition, genetic testing reduces the number of attempts, because embryos from the pathology will not be transferred. This is a chance for couples with genetic diseases to give birth to a healthy, blood-related child.
An important set of diagnostic measures aimed at identifying any genetic pathology of the fetus is a prenatal diagnostics during the period of gestation.
The main types of non-invasive diagnostics are widely known and mandatory for any pregnant woman. Among them:
- Ultrasound examination:
the first - at 11,5-13,5 weeks of pregnancy;
the second - at 19-22 weeks of pregnancy;
the third - with dopplerometry at 32-34 weeks of pregnancy;
- biochemical genetic screening of the first and second trimesters of pregnancy, which involves the assessment of certain blood markers to calculate the risks of genetic pathology of the fetus.
This diagnostic complex allows without injury and discomfort for a pregnant woman to identify serious hereditary pathologies in the fetus, such as Down syndrome, Edwards, Patau, and to suspect anomalies in the development of the heart or other organs already at the intrauterine level.
In addition, the DAHNO clinic has the opportunity for patients to undergo a modern study - a non-invasive prenatal test (NIPT), the accuracy of which is much higher than that of biochemical genetic screenings (the accuracy reaches 99%). NIPT is a woman's absolute confidence in the absence of common fetal genetic pathologies.
Usually invasive diagnostic methods are complementary to non-invasive ones and are carried out solely for medical reasons. Dahno Clinic specialists carry out:
- Amniocentesis - puncture of the amniotic membranes at 15-20 weeks of gestation in order to study the amniotic fluid;
- Chorionic villus sampling - to obtain chorionic tissues and their further diagnosis.
Each of the methods has its own medical indications, therefore, a doctor's consultation is mandatory.
- Complex approach;
- Modern equipment of an expert class;
- Accuracy, speed and quality of laboratory research;
- Professionalism of the team, the principle of collegial work and medical consultation;
- Individual approach;
- The atmosphere of comfort and care.