Genetics and Prenatal Genetic Care

CGT or Carrier Genetic Testing is an advanced genetic test. It determines whether future parents are carriers of specific genetic mutations that could cause severe diseases in their children. CGT is, therefore excellent prevention of some genetic defects if you are planning a pregnancy naturally or with the help of assisted reproduction. Most of us are carriers of genetic mutations even though we are completely healthy. However, if both parents are carriers of a genetic mutation on the same gene, there is a certain probability of the birth of a sick child. At UNICA clinics, we offer an extended panel of the CGT PLUS test, which detects 455 male and 519 female genes, including 66 genes linked to the sex X chromosome. CGT gives couples with positive results an option to decide if they want to use the genetic examination of the embryos created by the union of their germ cells. They can also choose to use a donated egg or sperm from tested donors and thus prevent the transmission of the disease to the child.

The method of pre-implantation genetic testing for aneuploidy (PGT-A) aims to select an embryo with a standard number of chromosomes. One of the main causes of infertility is the embryos with an abnormal set of chromosomes. These do not lead to pregnancy, cause miscarriage or the birth of a disabled child. We take a few cells from the blastocyst stage embryo for this testing. Using the OCTAX NaviLaseTM laser, we disrupt the integrity of part of the embryo's envelope and carefully remove the cells by biopsy. We send these to a genetic laboratory, which evaluates the most suitable embryos for transfer from a genetic point of view.

This screening aims to detect genetic diseases and chromosomal defects, such as Down's, Patau's or Edwards' syndrome. The examination, also called a contingency test, consists of two parts: blood sampling in the 10th to 11th week and ultrasound examination in the 12th to 13th week of pregnancy.

We thoroughly examine the blood taken from the patient in a certified laboratory and determine the level of pregnancy hormones and glycoproteins.

We plan the ultrasound examination date according to the careful measurement of the fetus. An experienced certified sonographer performs the examination, guaranteeing a sensitivity of more than 90%. It mainly focuses on measuring the so-called NT (Nuchal Translucency) and the evidence of NB (Nasal Bone). The so-called IT (Intracranial Translucency) can be visualised in most cases. With this, the sonographer examines the IV space of cerebral ventricles, which will detect possible defects of the neural tube in time.

During the examination, sonoanatomy of the fetus can also be performed, which can detect a whole range of congenital developmental defects, such as limb defects, cleft defects, defects of the anterior abdominal wall and, in some cases, congenital heart defects.
If, after the examination, we suspect or have a positive finding for any of the defects, we will arrange a consultation with a specialized geneticist. He will then propose a solution in the form of NIPT (Non-Invasive Prenatal Testing) or sampling of amniotic fluid or chorionic villi.

In the 20th to 22nd week of pregnancy, we perform an ultrasound examination that thoroughly examines the fetal organs and focuses on structural anomalies. We examine the fetus's skull and focus on its brain and face (profile and lips). We also check the chest, the heart's location and the upper body's upper part on ultrasound. We examine the organs in the abdominal cavity and check the integrity of the diaphragm, kidneys and genitals.
We also evaluate the spine, the skin covering above it and individual limbs with an ultrasound examination.

1) The MaterniT™ GENOME test uses state-of-the-art technology and offers the widest spectrum of examinations of all available non-invasive tests. This test analyzes each chromosome. The test can be performed from the 10th week of pregnancy, and we know the results within five working days from the delivery of the sample to the USA laboratory. The test is suitable for singleton pregnancies and pregnancies in the IVF program. 2) The MaterniT™ 21 PLUS test, as the only non-invasive test, provides a direct answer in the form of NEGATIVE/POSITIVE, i.e. YES/NO and not just a numerical risk. Its advantage is also the lowest percentage of non-reproducible results <1.5%. The test can be performed from the 10th week of pregnancy, and we know the results within five working days from the delivery of the sample to the USA laboratory. The test is suitable for single and multiple pregnancies and pregnancies in the IVF program. 3) HARMONY Prenatal test. The most frequently performed test detects trisomies of chromosomes 21, 18, and 13, aneuploidy of sex chromosomes, DiGeorge syndrome, and determines the sex of chromosomes X and Y. The result is in the form of a numerical risk, which is very accurate. Without trisomy, → risk is lower than 1/10000 (0.01%). The percentage of non-reproducible results is <4.0% (USA); we even got below 1.7% during our practice. The test can be performed from the 10th week of pregnancy, and we know the results within five working days from the delivery of the sample to the USA laboratory (± two days). The test is suitable for single and multiple pregnancies and pregnancies in the IVF program.