Published online by Cambridge University Press: 30 October 2009
Ms. C is 34 and she is getting married for the first-time. She tells her obstetrician/gynecologist that she and Mr. D are hoping to conceive quickly. Both Ms. C and Mr. D are of Ashkenazi Jewish descent. Ms. C's physician recommends that she undergo prenatal testing for a number of diseases more common in people of Jewish ancestry. Currently, the Ashkenazi Jewish panel includes up to 10 conditions depending on the laboratory (Leib et al., 2005). The conditions include severe conditions such as Tay Sachs disease and more mild conditions such as Gaucher disease type 1. Ms. C has never heard of any of the conditions, but she agrees to follow her physician's advice.
E is a healthy full-term infant male, who was born 24 hours ago. The nurses inform you that E's mother refused routine vitamin K supplementation given intramuscularly and the hepatitis B immunization because she does not want to put her son through any more discomfort than the birth process. You come to draw the newborn screen for phenylketonuria and other metabolic conditions before discharge, but she refuses.
What is prenatal testing and newborn screening?
Prenatal testing includes a number of clinical tools to provide reproductive information to individuals or couples either preconception or during pregnancy about their risks of having a child with a health disorder or condition. Prenatal testing involves a number of different types of test including genetic carrier testing, ultrasound, amniocentesis or chorionic villus sampling (CVS), or preimplantation genetic diagnosis.
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