Genetics

Pre-implantation genetic diagnosis (PGD) refers to genetic profiling of embryos created through IVF prior to the transfer into the patient’s uterus. During PGD the embryos are screened for a number of specific genetic disorders, so as to exclude the possibility of selected embryos having these particular abnormalities.

PGD enables patients with a chronic disease in their family history to avoid passing it on to their children. A specialist may recommend PGD if patients have a family history of severe genetic diseases or previous miscarriages due to genetic disorders.

The term preimplantation genetic screening (PGS) is used to denote procedures that do not look for a specific disease but use PGD techniques to identify embryos at risk. PGS involves checking the embryos chromosomes for common abnormalities. Chromosomal abnormalities are a major cause of miscarriages and the failure of embryos to implant. They can also cause such serious medical conditions as Down’s syndrome.

PGS is normally recommended for:

• older patients ( women over 35 years old);
• patients with a history of recurrent miscarriages;
• patients with a history of unsuccessful IVF cycles after the embryo transfer stage;
• patients with a family history of chromosomal diseases.

NIPT helps to learn a lot about the baby during the first trimester. This is the most progressive way to diagnose chromosomal disorders and other abnormalities, utilized in all developed countries in the world.

The testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood.

The testing is recommended when:

• The woman is older than 35 years old;
• Possible genetic abnormalities suspicions after the ultrasound;
• The pregnancy achieved with the use of IVF or other VRT 
• The risk of genetic abnormalities detected during the biochemical screening;
• Genetic abnormalities detected in other children’s DNA;
• A history of stillbirth;
• Premature labor or recurrent miscarriage;
• Unexplained infertility.

The key advantages of NIPT include its high accuracy and safety. The possibility of diagnostic mistake is only 0.01%. 

For this testing, the mother’s venous blood is used. The blood taking procedure is completely safe for both the baby, and the mother.

One more advantage is that the testing can be performed very early in the pregnancy – in the 9th week. 

The testing can detect the following diseases and abnormalities:

• Down syndrome;
• Edwards syndrome;
• Patau syndrome;
• Turner syndrome;
• Klinefelter syndrome;
• Triple X syndrome;
• Double Y syndrome.

While analyzing the fetus’ DNA, it is possible to identify its sex.

Even though NIPT is a high-accuracy method of diagnosis, it is, nevertheless, a screening test. Which means that should any abnormalities be detected during the testing, they still must be confirmed by an invasive test, such as fetal karyotyping. 

The testing is not performed:

• Earlier then the 9th week of pregnancy;
• If selective (multifetal) reduction has been performed;
• In cases of multifetal pregnancies with three or more fetuses;
• When the baby is carried by a surrogate mother;
• When the pregnancy is achieved by means of IVF with the use of donor oocytes.

If you would like to get more information about this method of diagnosis, please, contact the clinic by phone or via the online inquiry form.