Minnesota Gene Pool Blog

We in the business have tended to minimize this cost, suggesting that finding and saving lives and/or health of the kids with inborn errors is worth this cost. We have presumed (or hoped?) that families who go through the unsettling time when a diagnosis is not clear likely "get over it" once their child's health situation is resolved and found to be normal. These theoretical ramifications of false positives have been an unresolved issue for me for some time and I have wondered more than once whether there were any short and/or longterm consequences for the mental and psychological health of these families. So, it is with great interest that I noted this report by Waisbren and Gurien in the June 2006 issue of Pediatrics where the parents of babies who eventually were shown to not have a metabolic conditions were shown to have significant stress levels, even six months after testing. The authors suggest that this may be alleviated by better education of both parents and providers about newborn screening.

Money quote: "Although mothers in the false-positive group were interviewed at least six months after their child's diagnosis had been ruled out, they reported more worry about their child's future and rated themselves less healthy than mothers in the comparison group. Fifteen percent said their child needed extra parental care, versus 3 percent of mothers in the comparison group. After adjustment for socioeconomic factors, both mothers and fathers in the false-positive group had higher scores on the standardized Parenting Stress Index (PSI); 11 percent of mothers (versus no mothers in the comparison group) scored in the clinical range, in which treatment might be prescribed.

Waisbren and Gurian also found that false-positive tests affected the parent-child relationship: parents in the false-positive group scored more highly on two subscales of the PSI: a Parent-Child Dysfunctional Interaction scale and a Difficult Child scale. (The first asks parents to rate their agreement with statements like "I expected to have closer and warmer feelings for my child, and this bothers me"; the second has statements such as "My child makes more demands on me than most children.") "

This type of research is so important because we need to take into account these costs and work to address them. It is not fair that parents of kids who turn out to be healthy should be harmed in any way as a consequence of a program that exists to assure the health and wellbeing of all newborns and their families. By better understanding these unintended and unwelcome consequences, we can work to address and prevent them to the benefit of all.

A summary article can be accessed at: http://www.news-medical.net/?id=18240

Access to the article's abstract can be found via PubMed at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=
Abstract&list_uids=16740831&query_hl=2&itool=pubmed_docsum

Precise cite: Gurian EA, et al. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 2006 Jun;117(6):1915-21