Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate

VanVleck, Nicole; Wolf, Barry; Seeterlin, Mary; Monaghan, Kristin G.; Stanley, Eleanor; Hawkins, Harry; Taffe, Bonita

doi:10.3390/ijns1010045

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…There was a strong positive correlation between biotinidase activity and the other two enzymes measured in this study, IRT (r = 0.33) and GALT (r = 0.45) ( Figure 2). The cutoff for a profound biotin deficiency, taken as 10% of mean [24] was 7.27U, was found in only one male infant. The infant's parents were contacted in 2018, and the child was found to be developing normally.…”

Section: Biotinidasementioning

confidence: 98%

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

Pandey

Joshi

Rajbhandari

et al. 2019

IJNS

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The prevalence of metabolic disorders in Nepal is yet unknown, although many case reports occur in literature. Heel-prick blood samples from newborns were collected on Dried Blood Spot (DBS) collection cards and tested through Tandem Mass Spectroscopy and fluorescence assays for disorders included in the Swiss neonatal screening program; two cases of hypothyroidism and one case of cystic fibrosis were identified. Thyroid stimulating hormone (TSH), immuoreactive trypsinogen (IRT), hydroxyprogesterone (OHP), tyrosine (Tyr), and octanoylcarnitine (C8) showed significant differences with gestation age. Most of the parameters were positively correlated with each other except galactose, galactose 1 phosphate uridyl transferase (GALT), and biotinidase. First and ninety-ninth percentiles in the Nepalese newborns were found to be different when compared with the Swiss newborns. Congenital hypothyroidism and cystic fibrosis are candidates to be considered for a newborn screening program in Nepal. Differences between the Nepalese and Swiss newborns in parametric values that change with gestation age can be attributed to a higher survival rate of pre-term babies in Switzerland. Others could be explained in part by early and exclusive breastfeeding in Nepalese newborns.

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Section: Biotinidasementioning

confidence: 98%

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

Pandey

Joshi

Rajbhandari

et al. 2019

IJNS

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“…The hands-on time is less than the time spent preparing NGS libraries, and the analysis of the results is less time-consuming. In addition, Sanger sequencing of a single or a few genes is more cost efficient than NGS analysis (e.g., [11][12][13][14][15][24][25][26]). However, Sanger sequencing is only suitable for small or a few genes, and is unable to detect large insertions and deletions.…”

Section: Discussionmentioning

confidence: 99%

“…Most NBS programs today report pathological findings based on biochemical markers alone and do not include any second tier DBS DNA analyses [9,10]. For screening laboratories that do perform molecular analyses, Sanger sequencing has been the preferred method, especially when the suspected disease is related to one single gene or a few genes (e.g., [11][12][13][14][15]). We hereby present our current Sanger sequencing workflow in the Norwegian NBS program, including the primer sequences used for the different disorders.…”

Section: Introductionmentioning

confidence: 99%

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

Hogner,

Lundman,

Strand

et al. 2023

IJNS

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In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spot (DBS) filter cards. For monogenic disorders caused by variants in one single gene or a few genes only, Sanger sequencing has been shown to be the most time- and cost-efficient method to use. Here, we present the Sanger sequencing method, including primer sequences and the genetic test algorithms, currently used in the Norwegian newborn screening program.

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“…Indeed, when the main target of NBS is the profound BD, a lower cutoff is suggested to reduce the false positive [25]. Otherwise, a more conservative and age-related cutoff is advocated to avoid missing partial BD [29].…”

Section: Discussionmentioning

confidence: 99%

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

Semeraro

Verrocchio

Dalmazi

et al. 2022

IJERPH

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Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS test, and serum enzyme activity and/or mutational analysis are required for definitive diagnosis. In Italy, BD is included in the screening panel for inborn errors of metabolism (IEMs) that has been declared mandatory in 2016. We analyzed the data of the first 3 years of the NBS for BD in our region (Abruzzo, Italy), with the aim to describe the outcomes of this recently introduced screening program. In over 26,393 newborns screened, we found 2 carriers and 16 cases with genotype associated with partial BD. Since the serum biotinidase assay has been recently introduced in our algorithm, only three of our newborns met the criteria of genetic and biochemical confirmation, with an incidence of 1:8797, which is in the high range of what has been reported in the literature. All affected infants carried the 1330G>C (D444H) variant in compound heterozygosis, with variants known to be associated with profound BD. A variant previously not described and likely pathogenic was found in one newborn. None of the infants had signs or symptoms. The study of the distribution of the enzyme activity in our population allowed us to validate the adopted cutoff with which the program has a positive predictive value of 18% and to analyze some preanalytical factors influencing biotinidase activity: A correlation of the enzyme activity with gestational age and time at specimen collection was found. Lower mean values of enzyme activity were found in infants born in the summer.

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Improved Identification of Partial Biotinidase Deficiency by Newborn Screening Using Age-Related Enzyme Activity Cutoffs: Reduction of the False-Positive Rate

Cited by 3 publications

References 13 publications

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy

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