Primary prevention measures related to pregnancy can reduce the incidence of rare diseases. Several primary prevention measures are listed below.
- Educating and supporting all women in their preparation for conception and pregnancy by prescribing folic acid supplementation at least 4 weeks prior to conception and for the first 12 weeks of pregnancy.144
- Advising women who are pregnant, planning pregnancy or breastfeeding to take an iodine supplement of 150 micrograms (µg) each day.145
- Educating women of child-bearing age about the benefits of vaccination against rubella, measles, mumps, varicella, and hepatitis B prior to conception to prevent the development of congenital abnormalities.144
- Modifying diet and lifestyle risk factors associated with adverse pregnancy outcomes, such as smoking, alcohol consumption, and being overweight or obese. Lifestyle modification examples include smoking cessation and alcohol programs for pregnant women.
- Identifying and acting on factors that increase the chance of mothers having babies with rare congenital anomalies, including epilepsy, diabetes, and thyroid disorders, and providing specific preconception and pregnancy care.
- For most women with diabetes, epilepsy, BMI>30 kg/m2 or who have had a baby with a previous neural tube defect, 5 mg of folic acid/day should be taken for at least one month before conception and throughout the first trimester.144
- Diabetes treatment should be reviewed before (or early in) pregnancy to have the best control.146-149
- Women at high risk of gestational diabetes should have an early oral glucose tolerance test to identify and manage this if present.
- Epilepsy treatment should be reviewed before pregnancy to have the best control on the lowest but still effective dose of suitable medication.150,151
- Women with a personal history of thyroid disease, type 1 diabetes or symptoms of thyroid disease should be checked. Overt hypothyroidism should be treated in pregnancy (noting pregnancy-specific reference ranges).145
- Testing women with risk factors for deficiencies for Vitamin B12, iron, and Vitamin D, and prescribing supplementation if they are deficient.144
- Educating women about the recommended dietary and supplement restrictions in pregnancy (for example, avoiding mercury-containing fish).144,152
- Discussing TORCH infections (toxoplasmosis, other [for example, syphilis, varicella, mumps, parvovirus, and HIV, listeriosis], rubella, cytomegalovirus and herpes simplex), including methods to reduce exposure and transmission.144
- Screening, and where required, treating women for infectious diseases in pregnancy, including HIV, hepatitis B, hepatitis C, and syphilis.144,153
- Screening for medication use in pregnancy and advising on cessation or avoidance of potentially teratogenic medications.144
