Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.
Gaucher disease (MIM 230800) is the most common storage disorder, caused by hereditary deficiency of the lysosomal enzyme of glucocerebrosidase (EC 3.2.1.45). Human glucocerebrosidase gene (GBA) is mapped in locus lq21, it is 7.5 kb long and consists of 11 exons. According to the data of the largest human gene mutation databases, there are over 300 currently described pathogenic variants of GBA gene, most of them are related to the development of Gaucher disease. Aim. To identify rearrangements in the GBA gene which conditioned the development of Gaucher disease in Ukrainian patients, to compare their spectrum with the variants in patients from Slavonic and other European countries and to evaluate genotype-phenotype associations for this disease. Methods. The Sanger's method of direct automated sequencing using ABI 3130 analyzer (Applied Biosystems). Results. The application of different molecular and genetic approaches, including direct sequencing of gene sequence, allowed us to identify 96.8 % of mutant alleles in Ukrainian patients with Gaucher disease. Also six new and previously not described rearrangements of the GBA gene sequence were identified. Conclusion. The comparison of genotypes with clinical form of the disease, identified in patients, demonstrated that our results do not contradict the current recognized genotype-phenotype correlations, which allow predicting the type and clinical course of the Gaucher disease to some degree.
K e y w o r d s:Gaucher disease, GBA gene.
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