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Point mutations

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This type of prenatal genetic diagnosis for detection of known familial mutations is especially recommended in those pregnancies in which:

  • One or both parents are asymptomatic carriers of a known mutation in recessively inherited diseases.
  • One of the parents is genetically diagnosed with a dominantly inherited disease.
  • One of the couple’s previous children is affected by an inherited disease and genetically diagnosed.
  • There is a history of fetal loss, with the presence of apparently de novo mutations, due to the risk of recurrence due to the existence of a germinal mosaicism in one of the parents.

In order to perform these genetic studies for prenatal diagnosis of hereditary diseases, in addition to sending the fetal sample (chorionic villi or amniotic fluid), it is advisable to perform a cell culture of the fetal sample in case the amount of DNA obtained in the first instance is not sufficient to complete the prenatal genetic study. This is especially important in those cases in which the genes are large or in those diseases in which there are many genes associated with their development.

Similarly, it is essential to send peripheral blood from the pregnant mother to rule out possible maternal contamination in the fetal sample, through the study of microsatellite markers (STRs).

This test is also used to characterize the sex of the fetus, which is essential for those diseases with X-linked inheritance.

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LabGenetics offers a comprehensive genetic diagnostic service, personalized, flexible to the requirements of health professionals, and continuously introduces new genetic diagnostics of hereditary and rare diseases in its portfolio of services. Our goal is to establish close collaborations that allow us to obtain accurate and appropriate results for each case, as quickly and economically as possible.