With advances in technology, prenatal diagnosis can provide mothers-to-be with information, not only about the gender of their baby, but also the physical and genetic health. Will you be able to use advanced prenatal techniques to help diagnose a fetal abnormality?

Ultrasound and amniocentesis

In the Cytogenetics simulation, you will begin your mission in an ultrasound examination room where a young mother-to-be receives an abnormal ultrasound result. Your task is to find the underlying cause and to inform her about possible outcomes for her unborn child and any potential future children.

Array comparative genomic hybridization

In order to find the underlying cause of the abnormality, you will perform Array Comparative Genomic Hybridization (Array CGH) using an amniocentesis sample which you isolated previously. You will learn the basic principles of Array CGH and how to analyze the results. In order to confirm your findings, you will also perform karyotyping on both fetal and parental samples. You will learn how to prepare amniocentesis and blood samples for karyotyping, as well as how to analyze the results.

Parent consultation

Based on the results and information collected during the counseling with the parents, you will identify the underlying cause of the fetal abnormality. Your final task is to explain this and the associated medical condition to the mother, before advising her about future risks.