Fetal Medicine Unit Services
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
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.