TRISOMY test

Let the baby be healthy, every future mother wishes. The risk of possible fetal involvement increases with the age of the mother, but cannot be ruled out even at a young age. Many women are afraid to undergo the invasive and often painful amniocentesis and so live in fear for months.

What kind of baby it will be and what characteristics it will inherit from us is revealed by its unique DNA. In chemical language, it is a deoxyribonucleic acid that carries a person’s hereditary information. DNA is stored in chromosomes. The nucleus of a healthy human cell contains 46 chromosomes – 23 from the father and 23 from the mother. Chromosome pairs are usually denoted by numbers from 1 to 22. The last pair are the X and Y sex chromosomes.

For the female sex it is a pair XX, for the male XY. However, the intense cell division in the first stages after fertilisation of the egg can lead to accidental division errors, for example, an extra copy of one of the chromosomes is made.

Such a trio of chromosomes is called a trisomy. Trisomy baby does not inherit from ancestors, it is not a genetic disorder. It is a new bug, acquired by an incorrectly formed egg. However, trisomy has serious consequences for fetal development. The best known is trisomy 21, the so-called. Down syndrome, trisomy 18, so-called. Edwards syndrome, and trisomy 13, Patau syndrome.

Throughout the pregnancy, the expectant mother undergoes a number of preventive examinations to determine the state of health, as well as the state of health of the fetus. Various screening tests, such as biochemical screening, ultrasound or amniocentesis, can detect possible birth defects in the baby. In particular, amniocentesis, which involves taking a sample by puncture through the abdomen into the uterus, is often a painful, invasive procedure. That is why we offer you the revolutionary TRISOMY test in our gynaecological outpatient clinic of the FRAIS Institute of Health and Beauty. It’s a quick and painless blood test that can rule out the most common genetic disorders, called. trisomies of fetal chromosomes 21, 18 and 13, which cause Down, Edwards and Patau syndromes. The test poses no risk to the baby or the mother and minimises the need for amniocentesis.

The TRISOMY test is suitable for every pregnant woman from 11. week of pregnancy. You can undergo it at your own request and after consulting a gynecologist. It is most often performed between 11. a 22. week of pregnancy. The suitability of the date is decided by the doctor after consultation with you and examination of your health condition.

The TRISOMY test is suitable in the case of:

• if you are concerned about the possibility of the fetus being affected by one of the trisomies being investigated,
• if you are over 35 years old at the time of delivery and have had a negative result on a biochemical screening, triple test, etc,
• if you have had a positive biochemical screening result and need to confirm it with further investigations, such as amniocentesis,
• if the ultrasound examination showed an increased risk of the trisomies under investigation,
• if you became pregnant after artificial insemination,
• if a chromosomal abnormality was found in the fetus in your previous pregnancy,
• if you want to avoid amniocentesis or have complications, e.g. increased risk of spontaneous miscarriage, reduced blood clotting, risk of immunization with blood group mismatch (negative Rh-factor), uterine fibroids, etc.

What tests are available

TRISOMY test – can exclude with great accuracy the presence of chromosomal disorders in the fetus as early as 11. week of gestation. It even allows you to find out the sex of the fetus. Compared to other screening methods, it has a higher sensitivity for detecting the disorders of interest, detects possible false-positive results of biochemical prenatal screening, reduces the need for amniocentesis, and poses no risk to the mother or child.

TRISOMY test XY – Provides an extended version of the TRISOMY test and detects the risk of complete trisomy of chromosomes 21, 18 and 13, chromosomal sex of the fetus and sex chromosome number abnormalities. For example, Turner syndrome 45, X, Klinefelter syndrome XXY, or syndromes XYY and XXX.

TRISOMY test + – This is a genetic laboratory test that can detect more chromosomal disorders than the TRISOMY test. The TRISOMY+ test detects the risk of trisomy of chromosomes 21, 18 and 13, sex chromosome abnormalities and selected chromosome microdeletions in which part of a chromosome is missing. These include DiGeorge syndrome, 1p36 deletion syndrome, Prader-Willi and Angelman syndromes, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, etc.