Genetics & metabolism

Prenatal Genetic Screening & Diagnosis Service

Prenatal diagnosis refers to the detection of congenital anomalies (birth defects) or genetic diseases in the fetus prior to birth.

This service sees pregnant women for a variety of reasons, including a positive screening test or a concern identified on an ultrasound examination. Some women are seen to discuss the risks relating to their age, concerns in the family history or about potentially harmful exposures in the pregnancy.

A diagnostic test is designed to give a yes or no answer (for example, the fetus has or does not have that condition). A screening test, however, is designed to identify women who are at high risk for having a baby with one of these concerns. Women at high risk may then choose to have a diagnostic test.
In Manitoba, the current screening test that we recommend be offered to all pregnant women is called the Maternal Serum Screen. This is a screening test for Down syndrome, spina bifida and a few other conditions. Some women who meet certain criteria are offered an additional screening test called a Nuchal Translucency Ultrasound.

Ultrasound may be a diagnostic test for certain conditions such as spina bifida. Ultrasound is not a diagnostic test for many other conditions such as Down syndrome. For these conditions, the current diagnostic test in Manitoba is an amniocentesis.

This service is provided in collaboration with the Fetal Assessment Units at the Women's Centre and the St. Boniface General Hospital and the Cadham Provincial Laboratory. The service also works closely with the DNA Diagnostic and Cytogenetics Laboratories at the Health Sciences Centre.

As of July 01, 2013 the Genetics and Metabolism Program will no longer be accepting referrals for Advanced Maternal Age (AMA) as the sole indication.

Prenatal Referral Form

Notice: New Referral Policy

Flow Chart: Maternal Serum Screening in Manitoba

Information Sheet: Choroid Plexus Cyst(s)

Flow Chart: Soft Sign Adjustments Isolated Echogenic Foci and Choroid Plexus Cyst(s)

Information Sheet: Echogenic Intracardiac Focus

Maternal Age Chart

Manitoba Maternal Serum Screen Flow Chart: Screen Positive Result

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