FMU Services

Fetal Medicine Unit Services

Genetic Counselling

Prenatal Counselling:

Discussion regarding options for prenatal testing for aneupliidy should occur prior to any screening or diagnostic testing and typicallyoccur in the context of routine prenatal care. A discussion should begin with the reminder that most babies are born healthy but that all foetuses have an estimated 3% to 4% chance of being born with a birth defect or intellectual disability. Some woman have risl factors including maternal age, family history, underlying maternal medical conditions, and/or envitonmental exposures, that affect their a priori risk for specific conditions. Although there is no test that can identify all conditions, prenatal screening and diagnostic tests can shed light on some conditions

Genetic Carrier Screening:

The purpose of carrier screening is to identify individuals who carry a disease-causing genetic mutations that places them at risk for having a chid with a serious disorder. Typically, these indicuduals are asymptomatic and have a negative family history for the disorder. Most conditions included in carrier screening panels are singe-gene disorders that are inherited in an autosomal recessive pattern; therefore, both parents must be carriers in order to produce an affected offspring. The ultimate goal of this screeing process is to provide reproductive sounselling and family planning options to at-risk couples, ideally in the preconception period.