Paediatric Genetics.

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Clinical Genetics has it origins in Paediatric medicine when, in 1959, Down Syndrome was shown to be caused by an increased number of chromosomes. Today, the global prevalence of all single gene diseases at birth is approximately 10/1000 (WHO statistics).

Approximately three percent of all living newborns have a congenital difference or health problem. These conditions may be evident shortly after birth or later in the child's life.

While genetic and developmental disorders are individually rare, collectively they are the leading cause of infant mortality and childhood disability.

Genetic disorders may present

  • in an infant or fetus with congenital anomalies,
  • in the neonatal period with disease affecting any organ system, or
  • during childhood with recognition of an emerging phenotype such as developmental delays, seizures or growth disorders.

The ability to provide optimal clinical management is dependent on identification of the underlying genetic cause of disease and the strategy for selection of a genomic diagnostic test is highly dependent on the patient’s presenting clinical phenotype and the differential diagnosis.

An assessment of family history, congenital anomalies and development can assist in identifying the cause of your child’s medical presentation to:

  1. Assist/anticipate future medical issues.
  2. Guide surveillance and educational recommendations.
  3. Provide an understanding of the chance of recurrence in future pregnancies.