Medical Genetics Pregnancy Assessment Referral

The Provincial Medical Genetics Program provides pregnant people with personalized information, support and care to help them make informed decisions about their pregnancy.
The clinic focuses on assessing genetic risk and ensuring that patients understand their options and results in a compassionate and respectful environment.   

We provide the following services:
  • Diagnosing genetic conditions and providing information regarding diagnoses
  • Offering genetic counselling to help individuals to understand and navigate their diagnosis, including clarifying test results and assessing the risks of inherited conditions 

​Patient eligibility 

We serve patients from across British Columbia and the Yukon, excluding Vancouver Island residents who are served by the Victoria Genetics Clinic. Individuals need a referral from their health care provider, such as a family doctor, nurse practitioner, midwife or specialist to access care at this clinic. 

Reasons to refer a pregnant person to our program may include, but are not limited to:  
  • ​Pregnancy has an increased chance to be affected with a genetic condition due to:
    • ​Family history, including a previous pregnancy/child(ren) with single gene disorder or chromosome rearrangement (not aneuploidy)
    • Parents are both carriers for the same autosomal recessive disorder
    • One parent is affected with an autosomal dominant disorder for which they could request prenatal diagnosis
    • The pregnant person is a carrier of an X-linked disorder 
  • Obstetric ultrasound findings which indicate:
    • ​Aberrant right subclavian artery
    • Absent nasal bone (in the second trimester)
    • Anencephaly
    • Cystic hygroma or fetal hydrops identified <17 weeks gestation
    • Echogenic bowel
    • Nuchal fold thickness ≥ 7.0mm (second trimester)
    • Nuchal translucency ≥ 3.5mm (first trimester)​​
  • Screening results, including: 
    • ​High-risk, atypical or inconclusive results on prenatal cell-free DNA screening (NIPT)
    • High-risk maternal serum screen for Smith-Lemli-Opitz syndrome
    • Maternal serum alpha-fetal protein (msAFP) ≥ 400 µg/L
  • Other potential conditions:
    • ​​Chromosome abnormality in a fetus
    • One of the parents is a carrier of a chromosome rearrangement such as a translocation
    • Pregnancy conceived after transfer of aneuploid or mosaic embryo(s)
    • Pregnant person has a first-degree relative with a confirmed heritable thoracic aortic aneurysm/dissection  

​Referral steps

1Assessment

Please review the referral form in detail, ensuring all recommended testing has been completed as required.

2Complete your referral

Please complete the entire referral form, including records of any diagnostic testing and screening completed. Please include as much detail about your assessment as possible, to assist us in making an accurate decision for triage. We will return any referrals with missing or incomplete information to the referring provider’s office. 

3Send the referral

Please fax your completed form to our Pregnancy Assessment referrals fax line: 604-875-3484​ 

4Post referral

We will contact referring providers with an update on their referral, including whether their patient is eligible for our services.​

Common reasons we may decline a referral

  • ​The referral does not contain sufficient information to enable triage: e.g. if the patient is referred for concerns in the family history, please specify the exact relationship of the affected individual to the patient or fetus and provide documentation of the diagnosis
  •  The chance of a genetic disorder in the pregnancy is less than 1/200 (0.5%)
  •  The parents are carriers for different conditions that will not result in a clinically significant condition in the child: e.g. one partner is a carrier for alpha thalassemia (trait) and the other partner is a carrier for beta thalassemia (trait)
  • The patient is referred for an obstetric ultrasound finding that is not associated with a significantly increased chance of a genetic disorder in the fetus, such as absent or hypoplastic nasal bone in the first trimester, Grade 1 echogenic bowel or choroid plexus cyst(s)
  • The patient is referred for a history of a previous pregnancy affected with aneuploidy or triploidy
  • Prenatal cell free DNA screening (NIPT) failed to provide a result due to low fetal fraction, indistinguishable SNP profile, limitations of the test algorithm or insufficient quality of DNA due to laboratory processing factors 

​Contact information

Address:  

BC Women’s Hospital + Health Centre, Entrance #77
Medical Genetics Clinic​
Main floor, Room C234
4500 Oak Street 
Vancouver, BC
V6H 3N1 

Phone: 604-875-2157
Fax: 604-875-3484​​