Case Study 3 Genetic and Congenital Disorders
Felicity is a very busy 29-year-old woman in a professional career. She has diabetes mellitus and is also pregnant for the first time. Because of her busy schedule, it was over three weeks after missing her menstrual cycle when she visited her family doctor to have the pregnancy confirmed. Felicity became very concerned when her physician asked if she had taken folic acid. It was all Felicity could do to remember to manage her insulin levels, and taking folic acid supplements was something she had not even considered. Her doctor told her to take 600 μg of folic acid daily and advised Felicity to return later for maternal serum marker testing.
Explain the potential teratogenic effect of folic acid deficiency on the developing fetus. What is other risk factor noteworthy in Felicity’s case?
What is the benefit of maternal serum marker testing? What other test would be particularly useful to monitor the development of Felicity’s baby in this situation?
When is the fetus most vulnerable to the effects of teratogens and why?