New home screening program for liver disease in newborns

Parents in British Columbia are being asked to check their newborn’s stool colour in an effort to detect early signs of a rare but fatal liver disease, as part of the Biliary Atresia Home Screening Program launched by Perinatal Services BC.

When parents are discharged from the maternity unit, they are given a stool colour card that contains photos of normal and abnormal infant stool colours. Parents are asked to check their newborn’s stool colour against the colour card every day for the first month after birth.

Biliary atresia is a liver disease resulting from blockage of the bile duct, which prevents bile from leaving the liver, resulting in damage and scarring that can lead to death by the age of two if not treated. The disease begins to affect newborns in the first month of life. While it is normal to see jaundice in the first few days after birth, some babies may have jaundice that lasts longer than two weeks as well as pale yellow, chalk white, or clay-coloured stools, an indication that very little or no bile is reaching the intestine.

The preferred treatment is the Kasai procedure, a surgical method that re-establishes bile flow from the liver to the intestine by joining the two. The diseased bile duct is removed, and a small segment of the small intestine is attached to the liver at the spot where bile is expected to drain.

The effectiveness of this surgery depends on timing. If the Kasai procedure is performed in the first two months of life, it has an 80 per cent chance of success. But after three months, it drops to 20 per cent. If the procedure is unsuccessful, a liver transplant is required.

That is why detecting biliary atresia early is so important. There is no single blood test for biliary atresia, so stool colour is the main tool for early detection.

“We need to build awareness among parents and health care providers about the need to look at stool colour as a disease indicator,” says Dr. Richard Schreiber, Director, BC Pediatric Liver Transplant Program, BC Children’s Hospital and Professor of Pediatrics, University of British Columbia. “Poor outcomes due to late diagnosis and surgery of infants three months of age or older remain a problem throughout Canada and elsewhere in the world.”

The Biliary Atresia Home Screening Program is the first of its kind in Canada. The program is based on best practices in Taiwan as well as research conducted in BC and Quebec involving over 9,500 families. The stool colour card used in BC also has a Quick Response code, so parents can use their smartphones to sign up for weekly text or email reminders to check their baby’s stool. The reminders are available in 12 languages.

“BC is the first province in Canada to implement this unique type of home screening program,” says Kim Williams, Provincial Executive Director, Perinatal Services BC. “There are no blood tests or samples to collect, and it is family-centred—done at home by parents or other family members. Parents can feel empowered because they are taking a proactive role in identifying a life-threatening disease and improving the health of their newborns.”

“As an infant, my biliary atresia was nearly missed,” says Natalie Williams, a 16-year-old advocate from Vancouver Island. “My diagnosis was on the later side due to lack of awareness of medical professionals regarding both stool colour and prolonged jaundice. I am now 16-years-old and had a successful Kasai procedure. However, very few children are as lucky. Through my Facebook page, I have seen far too many infants have poor outcomes primarily due to late diagnosis. This is why I feel the new screening program is very important as it can help diagnose an infant earlier and give them a better chance of the Kasai procedure being successful and ultimately a better chance of overall survival. The screening program is giving parents the power and knowledge to help save their babies’ lives. I don’t think it gets much better than that.”

Perinatal Services BC, an agency of the Provincial Health Services Authority, provides leadership, support, and coordination for the strategic planning of perinatal services in British Columbia in collaboration with regional health authorities and other key stakeholders. PSBC is the central source in BC for evidence-based perinatal information. Download biliary atresia resources from www.perinatalservices.bc.