- Dr. Kaitlin Dupuis MD CCFP
Memory trick: Screening in Preconception & Prenatal Periods
List FIVE items on a patient's history that would warrant prenatal referral to Medical Genetics. Answers in the blog post below.
Feeling overwhelmed with the number of items to remember in a SAMP question about preconception/prenatal screening? Simplify the ethnicity based screening recommendations by remembering the four main recommendations:
A = Ashkenazi
If your patient has Jewish Ashkenazi ancestry, they should have an Ashkenazi Jewish Screening Panel ordered (for hematopoietic stem cell abnormalities)
B = Blood
If your patient is not Caucasian with Northern European ancestry or First Nations/Inuit, you will likely need a hemoglobin electrophoresis to screen for hemoglobinopathies (recommended for individuals of African, Mediterranean, Middle Eastern, Asian, Southeast Asian and Hispanic/South/Central American descent)
C = Cystic Fibrosis
If your patient is of Caucasian ancestry, with a family history of cystic fibrosis, they should be screened for CF mutations
D = Disease of Tay-Sachs
If your patient is of French Canadian, Ashkenazi Jewish and Cajun ancestry, they need screening for Tay-Sachs Disease
Other genetic disorders, congenital malformations, developmental delays, learning disabilities in the patient’s personal or family history warrant referral to medical genetics. Consider referral with a personal history of infertility, multiple miscarriages (>3 or all male fetuses). Also consider referral for a family history of unexplained sudden death or death of children at a young age (may indicate a metabolic condition).
Recommendations from the Centre for Effective Practice: Preconception Health Care Tool. November 2015.