Views of Mothers about National Newborn Screening Tests Performed in Turkey

Abstract

BackgroundNewborn screening tests can detect numerous congenital diseases that may cause disability or death and be performed first in 2006 in Turkey. Newborn screenings for Phenylketonuria and congenital hypothyroidism have increased in recent years due to the emergence of new diseases. It is essential for healthcare personnel and families to carry out these screening programs in a timely, accurate, and efficient manner. Informing families, particularly mothers, about these screening tests will help more newborn babies benefit from these tests. Therefore, this study aimed to explore mothers’ views about newborn screening programs in Turkey. Materials Methods: This descriptive and cross-sectional study included 112 volunteer mothers and was conducted at Zekai Tahir Burak Hospital, Ankara, Turkey, from December 2018 to January 2019. Results: Although mothers in Turkey were to some extent informed about the screening tests, they did not have sufficient information regarding the objective of these tests. Moreover, the majority of mothers expressed a positive opinion about the tests and stated that they would have these tests done even if they had to pay for them. Conclusion: Based on the obtained results, although mothers in turkey were not sufficiently knowledgeable about screening tests and their objectives, they expressed positive views about these tests. Therefore, it is recommended that families should be informed about newborn screening tests through mass media, educational environments (pregnancy schools), and screening test centers. Therefore, it is important to organize in-service training for midwives and nurses to raise their awareness in this regard.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Also, near the end of 2022, a Turkish molecular diagnostics startup launched an exome-sequencing-based newborn DNA screening test, which has the potential to become a suite of tests for various genetic diseases [ 1059 ]. Other recent reports concerning Turkish NBS have been published: a study of lymphopenia screening from cord blood demonstrating a cheaper, less invasive alternative to TREC analyses for SCID [ 1060 ]; a report of the status of genetic diagnostic laboratories and the frequency of genetic variants associated with CF detected through the Turkish NBS program [ 1061 ]; a 5-year data review of CF screening in a tertiary care center showing low sensitivity and PPV and a need for a national study to establish new cutoff values [ 1062 ]; a 6-year data review of the CF NBS protocol also showing low PPV in 3 tertiary care facilities with a similar appeal for re-evaluation of the screening protocol [ 1063 ]; and a report showing that mothers in Turkey are not sufficiently knowledgeable about NBS and recommending that education using mass media, educational environments (pregnancy schools), and screening test centers (including increasing awareness of this deficiency among midwives and nurses) [ 1064 ]. Most recently, a report on case reviews noted that ENBS can also play a pivotal role in identifying conditions in mothers of newborns identified by NBS [ 1065 ].…”