Perspectives and limitations of whole exome based neonatal screening

Shubina, Jekaterina; Pavlova, N.S.; Donnikov, Donnikov A.E.; Pomerantseva, E.А.; Trofimov, Trofimov D.Yu.

doi:10.33029/2308-2402-2022-10-4-40-46

Cited by 3 publications

(2 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently the first national newborn genetic screening on the basis on whole genome sequencing (WES-screening) project "EXAMEN" has been started in the Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology (https:// clinicaltrials.gov/study/NCT05325749 (accessed on 7 May 2024)) [28]. It is aimed to obtain the initial experience of the inclusive genetic screening of newborn in Russia, to develop the methodology of creation of the newborn genetic health record and to assess frequencies of mid and low penetrance hereditary disorders in Russian population.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

Chibisova,

Markova,

Tsigankova

et al. 2024

JOHBM

View full text Add to dashboard Cite

The universal newborn hearing screening (NHS) program was implemented in Russia in 2008 to replace the high-risk newborn hearing screening. More than 95% coverage and significant improvement in early detection and intervention is achieved. Meanwhile, it was shown that current OAE-based hearing screening missed 13% of newborns with genetically ascertained hereditary sensorineural hearing loss (SNHL). The aim of the study is to assess the results of genetic investigation and NHS in a large cohort of Russian children with bilateral SNHL and to study the feasibility of implementation of combined hearing and genetic screening in Russia. Genetic, audiological and NHS data of 1292 pediatric patients with bilateral SNHL born in 2008–2021 were analyzed. GJB2 sequencing was performed for all subjects, 644 patients had pathological GJB2 genotype, 406 of them were homozygous for c.35delG variant. The group of 155 GJB2-negative patients were searched for other SNHL genes, The pathological genotypes were identified at 87 patients. The most frequent genes were STRC (21.8%), USH2A (16.1%), OTOF (8%) and SLC26A4 (6.9%). Children with confirmed genetic etiology passed NHS in 21% of cases. The perspectives of implementation of national comprehensive newborn hearing and genetic screening including whole exome sequencing technologies are discussed.

show abstract

Section: Discussionmentioning

confidence: 99%

“…The similar WES projects named BabySeq and Baby Beyond Hearing has been reported recently [29,30]. The possible role of WES-screening for early detection of multiple diseases including congenital SNHL in Russia is currently discussed [28,31].…”

Section: Discussionmentioning

confidence: 99%

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

Chibisova,

Markova,

Tsigankova

et al. 2024

JOHBM

View full text Add to dashboard Cite

show abstract

Modern view of preconception carrier screening

Talantova,

Postnikova,

Mikhailova

et al. 2024

Journal of obstetrics and women's diseases

View full text Add to dashboard Cite

The article provides an overview current literature covering the issues of preconception carrier screening. Hereditary diseases make a large contribution to disability, deterioration in quality of life and reduction in life expectancy, primarily among the child population. Treatment and rehabilitation of patients with hereditary diseases is accompanied by serious economic costs, as well as psychological and social problems. In many countries, preference for preventive measures over treatment measures is enshrined in law. Awareness of preconception carrier screening among non-genetic doctors and the general population is currently very low. The development and introduction into practical healthcare of effective approaches to the prevention of hereditary diseases is of paramount importance in reproductive medicine. Conducting expanded carrier screening before pregnancy will allow for identifying in future parents the latent carriage of hereditary diseases responsible for infertility, miscarriage, infant or child mortality, and fetal development abnormalities, as well as formulating optimal tactics to prepare and introduce pregnancy, including the use of diagnostic and preventive measures.

show abstract

Georgy Nestorovich Speransky and Pediatrics of the XXI century

Fisenko

2023

RPJ

View full text Add to dashboard Cite

The article is devoted to the founder of Russian neonatology, one of the initiators and active builders of the Soviet system of maternity and infancy care, the manager and head of the first domestic research institution in the field of pediatrics, George Nestorovich Speransky. There are consistently described stages of G.N. Speransky multifaceted activity on the management of the national system of maternity and infancy care, the creation of neonatology as a scientific discipline, the education and advanced training of pediatricians and neonatologists, the introduction of a new system of specialized training of pediatricians at pediatric faculties, the activation of scientific societies of pediatricians. The ways of the further development of domestic pediatrics, new horizons in the creation and implementation of domestic and global pediatric projects aimed at improving the quality of life and timely comprehensive medical care for children are indicated.

show abstract

Perspectives and limitations of whole exome based neonatal screening

Cited by 3 publications

References 3 publications

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

Modern view of preconception carrier screening

Georgy Nestorovich Speransky and Pediatrics of the XXI century

Contact Info

Product

Resources

About