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All information about characteristics of humans is contained in the genetic material, the DNA molecule, which is grouped into 23 pairs of chromosomes.
Which disorders are tested?
We are able to diagnose changes in the chromosomes that cause serious physical or mental disorders. These fall into two groups: changes in the number of chromosomes (aneuploidy) and structural changes in the chromosomes.
When is testing recommended?
Prenatal diagnosis of genetic disorders is recommended in the following situations: pathological ultrasound results, poor results of biochemical markers, conception by artificial insemination, pregnancy at age 35 and later, presence of a family history of genetic disorders or spontaneous miscarriages, and if the parents have been exposed to some kind of radiation, or chemical/biological mutagens.
Aneuploidy
Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects). Such an embryo does not have the normal number of chromosomes (46).
Aneuploidy occurs during cell division when the chromosomes do not separate properly between the two cells. Such errors can occur in all individuals, but their prevalence increases with older parents. In some cases they may be the result of genetic changes that exist in the parents.
Most cases of aneuploidy result in termination of the developing fetus, but there can be cases of live birth; the most common extra chromosomes among live births are trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).
The most common aneuploidies can be diagnosed with the
QF-PCR test (the result of this test is obtained within one business day), and
cytogenetic test (the result is obtained after 12-20 days).
Both tests can be done simultaneously using the same sample.
Structural changes in chromosomes
Changes in the structure of chromosomes are rare and they include: translocations, deletions, duplications etc.
Such changes are usually inherited from a parent.
These changes can be determined only with the
cytogenetic test (the result is obtained after 12-20 days).
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