Parents' Experiences of Expanded Newborn Screening Evaluations

University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA.
PEDIATRICS (Impact Factor: 5.47). 06/2011; 128(1):53-61. DOI: 10.1542/peds.2010-3413
Source: PubMed


Abnormal results of newborn screening for common metabolic diseases are known to create substantial distress for parents. We explored parents' perceptions during diagnostic evaluations for newer disorders that are less well understood.
Thirty families completed 48 open-ended interviews before and/or after parents received confirmatory test results for their infants. Qualitative content analysis was used to analyze the data.
Parents were shocked by the notification of the abnormal test result. Their urgent and often frustrating searches for information dominated the early phase of the screening process. Treatment center personnel were mainly informative and reassuring, but waiting for results exacerbated parents' distress. Equivocal results from diagnostic testing created uncertainties for parents regarding their infants' long-term health. After counseling, some parents reported inaccurate ideas about the disorders despite exposure to large amounts of information. Regardless of the challenges and anxieties of the evaluation, nearly every parent thought newborn screening was an important program for infant health.
The evaluation of a newborn for an abnormal screening result was highly stressful for parents. To help reduce parents' distress, improvements in communications and clinical services are needed. Recommendations of useful Internet sites and discussions of this information may benefit parents. Tailoring counseling to meet the needs of culturally and educationally diverse families is needed. Families and infants with equivocal results are a new group of patients who merit comprehensive clinical follow-up.

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    • "Parents tend to experience significant emotional distress when notified about abnormal results (Moran, Quirk, Duff, & Brownlee, 2007; Tluczek et al., 2006 ). Given that most abnormal NBS results prove to be false positive, countless parents are caused needlessly to worry about their infants' well-being (Ciske et al., 2001; DeLuca, Kearney, Norton, & Arnold, 2011; Gurian, Kinnamon, Henry, & Waisbren, 2006; M ยด erelle et al., 2003), experience parenting stress (Gurian et al.; Waisbren et al., 2003), experience depressive and somatic symptoms (Sorenson, Levy, Mangione, & Sepe, 1984; Tluczek, Koscik, Farrell, & Rock, 2005), and may alter reproductive decisions (Mischler et al., 1998; Morrison & Clayton, 2011 ). Notification also occurs when women are susceptible to postpartum depressive symptoms that could be exacerbated by such news (Tluczek, McKechnie, & Lynam, 2010 ). "
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    • "The authors express their appreciation to Debra Skinner for her comments on the manuscript and assistance with coding, and to colleagues at the University of California-Davis and Rush University Medical Center for suggestions on the brochure. receiving information about NBS (Davis et al. 2006; DeLuca et al. 2011; Hasegawa et al. 2011), often because information is provided in the hospital shortly before or after birth. Parents prefer to receive this information prenatally (Detmar et al. 2007 ), as recommended by professional associations (Faulkner et al. 2006; AAP American Academy of Pediatrics (AAP) Newborn Screening Taskforce 2000). "
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