MGY250H1 Study Guide - Final Guide: Activin And Inhibin, Ovarian Cancer, Echocardiography

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Document Summary

To inform couples about their risk of birth defect or genetic disorder in their pregnancy. To provide couples with information for pregnancy decision making and delivery planning. To ensure optimal treatment of affected infants through early diagnosis. To provide reassurance and reduce the level of anxiety associated with reproduction. To determine recurrence risk in future pregnancies. Take blood from mother to test for fetal chromosome anomalies. This procedure does not put the fetus at risk and has a reliable primary testing method. Benign: may be inherited; common in general population; considered normal and not reported. Normal: no gain or loss detected; does not rule out all genetic conditions (97%) Pathogenic variant found: causing or capable of causing physical and/or developmental concern (1-2%) Unclear variant found: will require parental samples, may remain uncertain (1%) Unexpected findings: rare, may uncover parental disease risks. Disease identified may vary to trisomy down syndrome to learning disabilities.