Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes ...
Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare ...
The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel. Main Outcomes and Measures The primary...
Further, given the use of screening tools that are sensitive, there is also a risk of over diagnosis. These situations may be distressing to families and without adequate follow-up care, potentially harmful. To prepare for this, health worker training will include supportive communication approaches...
(2016). Advances in newborn screening for Pompe disease and resulting clinical outcomes. Expert Opinion on Orphan Drugs: Vol. 4, No. 1, pp. 21-29. doi: 10.1517/21678707.2016.1107472doi:10.1517/21678707.2016.1107472Chien, Yin-HsiuHwu, Wuh-Liang...
International Journal of Neonatal Screening Article Newborn Screening for SCID: Experience in Spain (Catalonia) Ana Argudo-Ramírez 1,*,† , Andrea Martín-Nalda 2,†, Jose Manuel González de Aledo-Castillo 1 , Rosa López-Galera 1,3, Jose Luis Marín-Soria 1, Sonia Pajares-García 1,...
Sample collection must be convenient and affordable for population-based screening. Currently, NBS tests are performed using a dried blood spot (DBS) on filter paper (NBS cards) so it is highly desirable for any new test to use these cards. Some of the aforementioned assays, however, are ...
© American College of Medical Genetics and Genomics Review Open Newborn screening 50 years later: access issues faced by adults with PKU Susan A. Berry, MD1, Christine Brown, MS2, Mitzie Grant, PhD3, Carol L. Greene, MD4, Elaina Jurecki, MS, RD5, Jean Koch, BA6, Kathryn Moseley, ...
4 This difference has been found in both selective and universal screening programs despite similar prevalence of drug use between the 2 groups.5-7 While CPS reports can facilitate referral to substance treatment programs and social services, they can also lead to emotional, social, and legal ...
Consent may differ if we had not explicitly excluded genetic or pharmacologic tests on the consent forms, described pilot tests for detecting new disorders as part of newborn screening, or if parents were not part of an ongoing cohort study. As participants had self-selected into the parent ...