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Genetic consultation prior to conception

Genetic consultation prior to conception

  • Consultation regarding risks associated to consanguinity.
  • Consultation regarding a personal or family history of genetic diseases. (Risk calculation, reproductive options, indication of genetic tests, clinical implications, discussion of the benefits and limitations of available genetic tests). Therapeutic options, prognosis and support in reproductive decision-making.
  • Consultation regarding screening for the carriers of diseases with a particularly high incidence rate among certain groups.
  • Consultation regarding the genetic causes of infertility.

Genetic prenatal consultation

  • Consultation regarding the risks associated with the mother's age, and the results of combined first and second trimester screening. Evaluation of parental anguish.
  • Consultation prior to invasive tests (nature of the test, detectable defects, techniques used, associated risks, limitations and benefits).
  • Consultation regarding the type of genetic analyses performed in invasive tests, considering ultrasound findings or family history. Discussion of new techniques such as array-CGH, indications and benefits.
  • Consultation regarding invasive test results (communication of results, clinical implications, therapeutic options, prognosis, support regarding decision-making in relation to pregnancies in progress).

Genetic consultation after legal abortion

  • Counselling consultation after legal abortion.
  • Discussion of genetic tests performed and foetal necropsy.
  • Establishment of clinical diagnosis, indication of additional genetic tests to confirm or identify a specific genetic diagnosis.
  • Genetic counselling regarding the risk of recurrence and appropriate reproductive options.

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