What's New in Newborn Screening in Manitoba

Behind the lines CPL and its partners work hard to keep newborn screening a modern quality service. Here are some of the newest changes introduced to the Newborn Screening Program.

1. Newborn Screening Cards, “Flip the Flap Back”

The new Newborn (PKU) Screening Cards have been available since spring 2010. These have been specially designed to collect the critical information needed to assure a timely, accurate service. We have included detailed orientation to the new Newborn Screening Card with an online powerpoint and detailed instructions in the Guide to Services regarding collection of bloodspots.

2. Newborn Screening for Cystic Fibrosis

Starting July 1, 2011, cystic fibrosis (CF) will be added to the conditions screened for in the newborn screening panel. Infants with elevated Immunoreactive Trypsinogen (IRT) will require a second bloodspot at 21 days of age. Babies with persistently or critically elevated IRT will be further tested for CF genetic mutations. Those with any CF mutations will be referred the Children’s Hospital CF Clinic for sweat testing, which is the confirmatory test. Initially there will be more second requests than usual, but this will decrease over time. This start-up is possible with support from the Children’s Hospital Foundation of Manitoba.

Cystic fibrosis is the most common fatal genetic disorder affecting children and young adults. It affects the lungs and digestive system. The body produces thick mucus that may interfere with lung function or digestion. Approximately one in 3,600 children born in Canada has CF.

3. Right to Refuse Screening

Parents have a right to refuse any test, treatment or procedure that is proposed by their health care provider. Your practitioner should be offering newborn screening to your newborn baby as it is one of the most effective tests available to children, but is otherwise not a mandatory test. Parents who wish to refuse newborn screening should notify their provider before the blood spot is collected, who must document the refusal on the newborn screening card and submit the card (without blood on it) to Cadham Provincial Laboratory. Parents who refuse newborn screening refuse the entire panel of tests.

4. Expanded Newborn Screening

Starting September 26, 2011, expanded newborn screening will be offered as part of the newborn screening panel in Manitoba. Expanded screening uses a technology called tandem-mass spectrometry (MS-MS) to simultaneously detect  dozens of different markers of potential metabolic disease in a baby's bloodspot. This dramatically expands the number of conditions that can be detected to include well over thirty more additional disorders of newborn metabolism. Like many other screening tests, a positive result on screening does not mean that a baby does have a metabolic condition, only that further assessment and perhaps testing is recommended. Some of the additional disorders that will be detectable with this technology include: tyrosinemia, homocystinuria, citrullinemia, arginosuccinic acidemia, maple syrup urine disease, isovaleric acidemia, multiple carboxylase deficiency, glutaric acidemia type 1, methylmalonic acidemia, medium chain acyl-CoA dehydrogenase (MCAD) deficiency, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, carnitine uptake deficiency, among many others.

Babies with suspicious results on the expanded screen will generally be requested to provide a second bloodspot sepcimen. Babies with critically abnormal results will be immediately referred to specialists at Winnipeg Children's Hospital for further assessment.

Cadham Provincial Laboratory
750 William Avenue
Winnipeg MB  R3E 3J7
E-mail:  cadham@gov.mb.ca
Phone:  204-945-6123
Fax:      204-786-4770