Clinical scenario: a family affected by a genetic disease
The clinical scenarioSonia Jamieson is 34 years old and is in the final trimester of her second pregnancy (G2, P1). Her first child Daniel was born in 2010 and presented with severe adrenal crisis. Sonia is anxious to prevent similar health problems for her next child. Genetic tests revealed that she and her husband carry a faulty gene variant (CYP21A2 deletions; see http://omim.org/entry/201910) and that Daniel has 2 copies of this gene variant.Sonia attends the obstetrics outpatient clinic and is under the care of a fetal medicine specialist. She had a non-invasive prenatal genetic test (NIPT) to determine the sex of her fetus because of a family history of Congenital Adrenal Hyperplasia (CAH). These tests showed that Sonia’s unborn child is a girl and she has been treated with dexamethasone since her pregnancy was confirmed. Sonia chose not to have subsequent chorionic villus sampling or amniocentesis to check the genotype of her unborn child.
Using Personalized Medicine and Pharmacogenetics
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