a. Carrier Screening Before Marriage and Pregnancy (Pregnarisk)

Couples planning to marry or become parents, whether in consanguineous marriages or not, are advised to consult a genetic specialist regarding risks of genetic disorders.

During pregnancy, it is important to assess the potential risks to both the mother and the baby caused by certain genetic disorders. If these risks are properly evaluated, necessary precautions can be taken. Particularly when these tests are performed before pregnancy, measures can be implemented to prevent the occurrence of such disorders altogether.

Many of these risks cannot be identified through physical examination or patient history alone. They are life-threatening conditions and may lead to severe physical or intellectual disabilities in the child, or cause significant problems in vital organs.

In addition to the core screening, the package also includes the analysis of other genetic conditions that are common in the population and pose a high risk during pregnancy. These conditions cannot be detected through standard methods but can be identified through whole exome analysis.

 

Test to Be Performed

  • Whole Exome Sequencing

  • DMD

  • SMA

  • 21-Hydroxylase Deficiency

  • Alpha Thalassemia

  • Fragile X


Who Can Take the Test?

  • Individuals planning for pregnancy

  • Especially those in consanguineous marriages

  • Blood samples are taken from both partners


Number of Genes Analyzed

  • 4,480


Assessments Based on Gene Analysi

  • Evaluation of the mother’s pregnancy-related genetic risks

  • Assessment of the baby’s risk of genetic diseases during pregnancy

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