Psychological Effects of False-Positive Results in Expanded Newborn Screening in China

Abstract

ObjectivesAs more families participate expanded newborn screening for metabolic disorders in China, the overall number of false positives increases. Our goal was to assess the potential impact on parental stress, perceptions of the child's health, and family relationships.MethodsParents of 49 infants with false-positive screening results for metabolic disorders in the expanded newborn screening panel were compared with parents of 42 children with normal screening results. Parents first completed structured interview using likert scales, closed and open questions. Parents also completed the parenting stress index.ResultsA total of 88 mothers and 41 fathers were interviewed. More mothers in the false-positive group reported that their children required extra parental care (21%), compared with 5% of mothers in the normal-screened group (P<0.001). 39% of mothers in the false-positive group reported that they worry about their child's future development, compared with 10% of mothers in the normal-screened group (P<0.001). Fathers in the false-positive group did not differ from fathers in the normal-screened group in reporting worry about their child's extra care requirements, and their child's future development. Children with false-positive results compared with children with normal results were triple as likely to experience hospitalization (27%vs 9%, respectively; P<0.001).ConclusionsThe results showing false-positive screening results may affect parental stress and the parent-child relationship. Parental stress and anxiety can be reduced with improved education and communication to parents about false-positive results.

Psychosocial impact on mothers receiving expanded newborn screening results

“…Our findings largely support the notion that there are few significant long-standing psychosocial challenges for mothers associated with receiving TP or FP results [25,27]. Through the course of our study, we observed a potential need for establishing prenatal and ongoing support and counseling for families.…”

“…The above table displays the descriptive statistics for each group. DASS-Depression score ranges: normal (0-9), mild (10-13), moderate (14)(15)(16)(17)(18)(19)(20), severe (21)(22)(23)(24)(25)(26)(27) and extremely severe (28+) [20]. DASS-Anxiety: normal (0-7), mild (8-9), moderate (10)(11)(12)(13)(14), severe (15)(16)(17)(18)(19) and extremely severe (20+) [20].…”

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

“…The incorporation of post-analytical interpretation and second-tier biomarker testing in the newborn screening process limits detection to high risk patients and avoids the identification of patients with ambiguous findings who face the potential of a lifetime of unnecessary monitoring [16]. With newborn screening programs continually expanding to include more conditions, the need to improve the performance of newborn screening becomes even more important in order to increase testing specificity while decreasing unnecessary parental anxiety and follow up costs due to false-positive results [33,34]. Newborn screening has the capacity to avoid the diagnostic delay and accompanying distress that may be experienced by the patient and family in this scenario, allowing for early identification and timely implementation of treatment.…”

Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening

“…The disorder could be excluded in all other suspected cases. The avoidance of repeated blood sampling in the large number of false-positive cases can eliminate unnecessary family anxiety and the accompanying increase in the frequency of hospitalization [20,24]. …”