Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

Cantú-Reyna, Consuelo; Zepeda, Luis Manuel; Montemayor, René; Benavides, Santiago J.; González, Héctor; Vázquez-Cantú, Mercedes; Cruz-Camino, Héctor

doi:10.1177/2326409816669027

Cited by 5 publications

(5 citation statements)

References 15 publications

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“…NBS in Mexico was one of the earlier NBS programs in LATAM, beginning in 1973 but paused from 1977 until 1986. In 1988, NBS for CH was formalized by rule [ 1231 ]. Currently, the National Center for Gender Equity and Reproductive Health within the MOH is responsible for NBS policies and the screening panel includes CH, CAH, PKU, GALT, CF, and G6PD [ 1232 ].…”

Section: Resultsmentioning

confidence: 99%

“…There are three different healthcare providers in Mexico that serve the population according to employment-based social insurance, uninsured public assistance, and private employer’s insurance [ 1227 , 1233 ]. Different screening approaches occur in the various hospitals, groups of hospitals, and government departments without any unified central coordination [ 1231 , 1234 , 1235 , 1236 ]. The Secretary of Health oversees the highest percentage coverage of Mexican newborns [ 1237 , 1238 ].…”

Section: Resultsmentioning

confidence: 99%

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

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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“…The birth prevalence of PA across Asia-Pacific, Europe, and North America is 0.29, 0.33, and 0.33 per 100000 newborns, respectively[ 7 ], however, it is still unknown in Mexico. This disorder appears to be very rare for the Mexican population, as determined by at least two expanded neonatal screening reports applying an acylcarnitine profile[ 8 , 9 ], even though PA comprises around 7% of all detected inborn errors of intermediary metabolism in Mexican patients[ 10 ]. To date, in the Human Gene Mutation Database ( ), there are around 25 splicing defects responsible for PA. To the best of our knowledge, the c.2041-1G>T variant has not been reported in the literature as associated with PA.…”

Section: Discussionmentioning

confidence: 99%

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

Neumann¹,

Alcántara-Ortigoza²,

Ángel³

et al. 2021

WJCC

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BACKGROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduction facilities' current methodology for screening, which focuses on the detecting multiple genetic disorders at once. Here, we report the successful application of a low-cost and fast preimplantation genetic testing for monogenic/single gene defects (PGT-M) approach for detecting propionic acidemia (PA) in embryos obtained from a confirmed heterozygous propionyl-CoA carboxylase alpha subunit ( PCCA ) couple. CASE SUMMARY A fertile 32-years old Mexican couple with denied consanguinity sought antenatal genetic counseling. They were suspected obligate PA carriers due to a previous deceased PA male newborn with an unknown PCCA /propionyl-CoA carboxylase beta subunit ( PCCB ) genotype. Next-Generation Sequencing revealed a heterozygous genotype for a pathogenic PCCA variant (c.2041-1G>T, ClinVar:RCV000802701.1; dbSNP:rs1367867218) in both parents. The couple requested in vitro fertilization (IVF) and PGT-M for PA. From IVF, 12 oocytes were collected and fertilized, of which two resulted in high-quality embryos. Trophectoderm biopsies and Whole Genome Amplification by a fragmentation/amplification-based method were performed and revealed that the two embryos were euploid. End-point polymerase chain reaction and further Sanger sequencing of the exon-intron borders revealed a wild-type PCCA male embryo and a heterozygous c.2041-1G>T female embryo. Both embryos were transferred, resulting in a clinical pregnancy and the delivery of a healthy male newborn (38 wk, weight: 4080 g, length: 49 cm, APGAR 9/9). The absence of PA was confirmed by expanded newborn screening. CONCLUSION We show that using PGT-M with Whole Genome Amplification templates, coupled with IVF, can reduce the transmission of a pathogenic variant of the PCCA gene.

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“…16 In another study Sharma et al also documented G6PD deficiency as the most prevalent disorder but contrary to our findings they reported a very high incidence of 44% of the total diagnosed cases. 17 Cantu´-Reyna et al found G6PD deficiency and hemoglobinopathies as the most frequent disorders. 18 Echeverri et al screened different IDM and listed aminoacidopathies as the commonest disorders followed by organic aciduria and Lysosomal storage disorders.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Ehtizaz¹,

Haider²,

Mahmood³

et al. 2021

JRMC

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Objective: To determine the frequency of various Inherited Metabolic Diseases (IMDs) in clinically suspected neonates and children in relation to age, gender, and distribution in rural and urban areas.Materials and Methods: A total of 275 symptomatic neonates and children were enrolled for IMDs. A complete medical history, baseline biochemical tests, cerebrospinal fluid analysis, arterial blood gases, anion gap, serum ammonia, lactate, and urinary ketones were assessed. Any significant microbiological cause for the presenting symptom was excluded. For screening of Inborn Metabolic Error simple Heel prick test was done on PerkinElmer 226 filter paper in newborns and infants. Samples were sent to Jordan for analysis. High-performance liquid chromatography combined with tandem mass spectrometry (LC-MS/MS) was the technique used in the screening of a variety of IMDs. The frequency of Inherited Metabolic Diseases and their relation with age, gender, and location was determined using the chi-square goodness of fit test. A p-value ≤ of 0.05 was considered statistically significant. Results: Of the 275 subjects screened, 47(17%) had an inherited metabolic disorder, of which 27 were male and 20 were female with a Male to Female ratio of 1.35:1. The difference in metabolic disorders was significantly different between age (p=0.01) and gender (p=0.04). Of the diagnosed cases G6PD disorder was found to be the most frequent disorder 14 (29.79%) of the total diagnosed cases, followed by Aminoaciduria in 9 (19.15%) and Carnitine Uptake Defect in 7 (14.8). Conclusion: The cases detected to have IMDs revealed a significant prevalence. G6PD was detected as the most frequent disorder. A simple Heel prick test on PerkinElmer 226 filter paper is a useful method to detect IMDs, though confirmation is usually required by other tests.

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Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital

Cited by 5 publications

References 15 publications

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

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

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

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