Appropriate and timely education about newborn screening (NBS) helps to foster benefits such as prompt follow up, to promote parents' autonomy via informed consent and minimize the harms such as reducing the impact of NBS false-positive results. The aim of this study was to ascertain how mothers are informed about NBS in the Czech Republic and to identify the variables associated with awareness about NBS. The questionnaires evaluating awareness and its determinants were mailed to a random sample of 3000 mothers 3 months post-delivery. The overall response rate was 42%. We analysed 1100 questionnaires and observed that better awareness about NBS was significantly associated with age, parity, number of information sources, child health status, size of maternity hospital and an obstetrician as the source of prenatally obtained information. Although the majority of mothers (77%) in our study recalled being informed by a physician or nurse in the neonatal ward, results have revealed that over 40% of participants did not have sufficient awareness about the principal aspects of NBS. Several measures including seminars for healthcare providers and the development and distribution of new educational materials were adopted to improve parental education about NBS in the Czech Republic.

Department of Pediatrics and Adolescent Medicine Charles University 1st Faculty of Medicine and General University Hospital Ke Karlovu 2 128 04 Prague 2 Czech Republic;

Institute for Medical Humanities 1st Faculty of Medicine Charles University Karlovo náměstí 40 128 08 Prague 2 Czech Republic

Institute of Physiology 1st Faculty of Medicine Charles University Albertov 5 128 00 Prague 2 Czech Republic;

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Loeber J.G., Burgard P., Cornel M.C., Rigter T., Weinreich S.S., Rupp K., Hoffmann G.F., Vittozzi L. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J. Inherit. Metab. Dis. 2012;35:603–611. doi: 10.1007/s10545-012-9483-0. PubMed DOI

Gurian E.A., Kinnamon D.D., Henry J.J., Waisbren S.E. Expanded newborn screening for biochemical disorders: The effect of a false-positive result. Pediatrics. 2006;117:1915–1921. doi: 10.1542/peds.2005-2294. PubMed DOI

Tluczek A., Orland K.M., Nick S.W., Brown R.L. Newborn screening: An appeal for improved parent education. J. Perinat. Neonatal Nurs. 2009;23:326–334. doi: 10.1097/JPN.0b013e3181a1bc1f. PubMed DOI PMC

DeLuca J.M., Kearney M.H., Norton S.A., Arnold G.L. Parents’ experiences of expanded newborn screening evaluations. Pediatrics. 2011;128:53–61. doi: 10.1542/peds.2010-3413. PubMed DOI

Schmidt J.L., Castellanos-Brown K., Childress S., Bonhomme N., Oktay J.S., Terry S.F., Kyler P., Davidoff A., Greene C. The impact of false-positive newborn screening results on families: A qualitative study. Genet. Med. 2012;14:76–80. doi: 10.1038/gim.2011.5. PubMed DOI

Burgard P., Rupp K., Lindner M., Haege G., Rigter T., Weinreich S.S., Loeber J.G., Taruscio D., Vittozzi L., Cornel M.C., et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J. Inherit. Metab. Dis. 2012;35:613–625. doi: 10.1007/s10545-012-9484-z. PubMed DOI

Etchegary H., Nicholls S.G., Tessier L., Simmonds C., Potter B.K., Brehaut J.C., Pullman D., Hayeems R., Zelenietz S., Lamoureux M., et al. Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice. Eur. J. Hum. Genet. 2016;24:1530–1534. doi: 10.1038/ejhg.2016.55. PubMed DOI PMC

Miller F.A., Hayeems R.Z., Carroll J.C., Wilson B., Little J., Allanson J., Bytautas J.P., Paynter M., Christensen R., Chaktraborty P. Consent for newborn screening: The attitudes of health care providers. Public Health Genom. 2010;13:181–190. doi: 10.1159/000240966. PubMed DOI

Tluczek A., Koscik R.L., Farrell P.M., Rock M.J. Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics. 2005;115:1692–1703. doi: 10.1542/peds.2004-0275. PubMed DOI

Davey A., French D.P., Dawkins H., O’Leary P. New mother’s awareness of newborn screening, and their attitudes to the retention and use of screening samples for research purposes. Genom. Soc. Policy. 2005;1:41–51. doi: 10.1186/1746-5354-1-3-41. DOI

Araia M.H., Wilson B.J., Chakraborty P., Gall K., Honeywell C., Milburn J., Ramsay T., Potter B.K. Factors associated with knowledge of and satisfaction with newborn screening education: A survey of mothers. Genet. Med. 2012;14:963–970. doi: 10.1038/gim.2012.87. PubMed DOI PMC

Backer C., Murphy R., Fox J.R.E., Ulph F., Calam R. Young children’s experiences of living with a parent with bipolar disorder: Understanding the child’s perspective. Psychol. Psychother. 2017;90:212–228. doi: 10.1111/papt.12099. PubMed DOI

Guidelines for Newborn Bloodspot Screening and Follow-Up Care. [(accessed on 27 July 2019)]; Available online: http://www.mzcr.cz/Legislativa/dokumenty/vestnik-c6/2016_12065_3442_11.html.

Newborn Blood Screening—Czech Official Web Pages. [(accessed on 12 September 2019)]; Available online: www.novorozeneckyscreening.cz.

Act No. 372/2011 Coll., on Health Services and the Terms and Conditions for the Providing of Such Services (The Act on Healthcare Services) [(accessed on 3 July 2015)]; Available online: http://portal.gov.cz/app/zakony/zakonPar.jsp?page=0&idBiblio=75500&recShow=17&nr=372~2F2011&rpp=50#parCnt.

Institute of Health Information and Statistics of the Czech Republic . Mother and Newborn 2013. Institute of Health Information and Statistics of the Czech Republic; Prague 2, Prague, Czech Republic: 2015.

Suriadi C., Jovanovska M., Quinlivan J.A. Factors affecting mothers’ knowledge of genetic screening. Aust. N. Z. J. Obstet. Gynaecol. 2004;44:30–34. doi: 10.1111/j.1479-828X.2004.00171.x. PubMed DOI

Davis T.C., Humiston S.G., Arnold C.L., Bocchini J.A., Jr., Bass P.F., 3rd, Kennen E.M., Bocchini A., Kyler P., Lloyd-Puryear M. Recommendations for effective newborn screening communication: Results of focus groups with parents, providers, and experts. Pediatrics. 2006;117:S326–S340. doi: 10.1542/peds.2005-2633M. PubMed DOI

Arnold C.L., Davis T.C., Frempong J.O., Humiston S.G., Bocchini A., Kennen E.M., Lloyd-Puryear M. Assessment of newborn screening parent education materials. Pediatrics. 2006;117:S320–S325. doi: 10.1542/peds.2005-2633L. PubMed DOI

Lang C.W., Stark A.P., Acharya K., Ross L.F. Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis. Am. J. Med. Genet. A. 2009;149:2424–2429. doi: 10.1002/ajmg.a.33074. PubMed DOI PMC

Al-Sulaiman A., Kondkar A.A., Saeedi M.Y., Saadallah A., Al-Odaib A., Abu-Amero K.K. Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening. Biomed. Res. Int. 2015;2015:718674. doi: 10.1155/2015/718674. PubMed DOI PMC

Nicholls S.G., Southern K.W. Parental information use in the context of newborn bloodspot screening. An exploratory mixed methods study. J. Community Genet. 2012;3:251–257. doi: 10.1007/s12687-012-0082-4. PubMed DOI PMC

Ulph F., Wright S., Dharni N., Payne K., Bennett R., Roberts S., Walshe K., Lavender T. Provision of information about newborn screening antenatally: A sequential exploratory mixed-methods project. Health Technol. Assess. 2017;21:1–240. doi: 10.3310/hta21550. PubMed DOI PMC

Detmar S., Hosli E., Dijkstra N., Nijsingh N., Rijnders M., Verweij M. Information and informed consent for neonatal screening: Opinions and preferences of parents. Birth. 2007;34:238–244. doi: 10.1111/j.1523-536X.2007.00176.x. PubMed DOI

Moody L., Choudhry K. Parental views on informed consent for expanded newborn screening. Health Expect. 2013;16:239–250. doi: 10.1111/j.1369-7625.2011.00710.x. PubMed DOI PMC

Nicholls S.G., Southern K.W. Informed choice for newborn blood spot screening in the United Kingdom: A survey of parental perceptions. Pediatrics. 2012;130:e1527–e1533. doi: 10.1542/peds.2012-1479. PubMed DOI

Waisbren S.E., Albers S., Amato S., Ampola M., Brewster T.G., Demmer L., Eaton R.B., Greenstein R., Korson M., Larson C., et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003;290:2564–2572. doi: 10.1001/jama.290.19.2564. PubMed DOI

Tarini B.A., Christakis D.A., Welch H.G. State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results. Pediatrics. 2006;118:448–456. doi: 10.1542/peds.2005-2026. PubMed DOI

Goldenberg A.J., Comeau A.M., Grosse S.D., Tanksley S., Prosser L.A., Ojodu J., Botkin J.R., Kemper A.R., Green N.S. Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review. Matern. Child Health J. 2016;20:693–700. doi: 10.1007/s10995-015-1869-9. PubMed DOI PMC

Howard H.C., Knoppers B.M., Cornel M.C., Wright Clayton E., Senecal K., Borry P. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur. J. Hum. Genet. 2015;23:1593–1600. doi: 10.1038/ejhg.2014.289. PubMed DOI PMC

Botkin J.R., Rothwell E., Anderson R.A., Rose N.C., Dolan S.M., Kuppermann M., Stark L.A., Goldenberg A., Wong B. Prenatal Education of Parents About Newborn Screening and Residual Dried Blood Spots: A Randomized Clinical Trial. JAMA Pediatr. 2016;170:543–549. doi: 10.1001/jamapediatrics.2015.4850. PubMed DOI PMC

Informing Parents about Newborn Screening: A European Comparison Study

Regulatory landscape of providing information on newborn screening to parents across Europe