Modern and responsible approach to planned parenthood

What is Preconception Genetic Examination?

The preconception examination is a set of genetic tests that are suitable for couples at the time of planning a pregnancy, i.e. before conceiving a child (conception). The aim of these tests is to reduce the risk of giving birth to a child with a severe genetic disease.

Is Preconception Genetic Examination suitable for a couple who has no relatives with a genetic disease?

Yes, this type of examination is especially designed for couples without known genetic burden in the family. The analyses aim to disclose those genetic predispositions that cause no symptoms in their carriers. A child, who inherits these “hidden” predispositions from both parents (or a son who inherits the mutation from mother in case of X-linked disease), will be severely affected.

Is Preconception Genetic Examination also advisable in couples whose families suffers a genetic disorder?

Prime genetic examination for couples, who have a genetic disease with known molecular cause in the family, is a test that targets this disease. However, to disclose predispositions to other genetic disorders the carrier screening can also be performed and is fully recommended.

What kind of genetic tests does Preconception Genetic Examination include?

Main part of the preconception genetic examination is the “Carrier screening” test. The test examines whether an individual carries genetic predispositions (mutations) to the most common monogenic diseases, i.e. diseases caused by a mutation in a single gene. Examined genetic diseases include 1) autosomal recessive (AR) disorders, where the child‘s disability is caused by mutations in the same gene inherited from both parents (healthy carriers) and 2) X-linked diseases, where the affected son inherits from mother (a healthy carrier) the mutated gene on the X sex chromosome.

To complete preconception examination, the chromosome complement (karyotype) may also be analyzed.

What specific hereditary diseases are included in the preconception test?

Genetika Plzeň offers preconception testing in two variants. Both include karyotype examination (Cytogenetic Laboratory | Genetika Plzeň (genetika-plzen.cz)) and differ in the number of monogenic diseases tested:

Basic Preconception Test: Detection of carrier status for mutations of the three most common autosomal recessive monogenic diseases in the Czech population, or in Central Europe: cystic fibrosis, spinal muscular atrophy, and non-syndromic deafness (due to mutation of the GJB2 gene). The examination is fully covered by health insurance. Molecular Laboratory | Genetika Plzeň (genetika-plzen.cz)

Expanded Preconception Test – "Carrier Screening": Screening for carrier status of 128 autosomal recessively inherited and 23 X-linked monogenic diseases. The examination targets the most commonly occurring recessive diseases across all world ethnicities, such as: cystic fibrosis, spinal muscular atrophy, non-syndromic deafness (with GJB2 gene mutation), α and β thalassemia, sickle cell anemia, phenylketonuria, albinism type 1, and others.