By Tamara Callahan MD, Aaron Caughey MD MPP MPH
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Sample text
Decreased levels of maternal folic acid are associated with the development of NTDs. Supplementation with periconceptional folic acid effectively reduces the incidence as well as recurrence of NTDs. The risk of NTDs is doubled in cases of homozygosity for a common mutation in the gene for methyl tetrahydrofolate reductase (MTHFR), the C677T allelic variant that encodes an enzyme with reduced activity. However, even if the association were causal, this MTHFR variant would account for only a small fraction of NTDs prevented by folic acid.
Her vaginal bleeding suggests an inevitable abortion and she does not need further treatment at this time b. Her abdominal pain is concerning and she must undergo urgent laparoscopy for evacuation of the ectopic pregnancy c. This is a desired pregnancy, she should return in 48 hours to continue to follow the β-hCG level d. She should proceed with methotrexate therapy e. What additional recommendation would you make at this time? a. The patient should receive RhoGAM b. She should return in 48 hours for a follow-up test of β-hCG level c.
SCREENING PATIENTS FOR GENETIC DISEASES Many diseases are passed genetically from parents to their offspring. This is best understood using the principles of Mendelian genetics. Autosomal dominant (AD) diseases are usually inherited from one parent with the disease via a single gene defect. Risk of disease and recurrence (if the partners choose to have another child) is usually 50%. Autosomal recessive (AR) diseases require two affected alleles. Thus, assuming both parents are carriers, the risk to the child is 25%.