Regulatory landscape of providing information on newborn screening to parents across Europe

International audienceNewborn 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

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

International audienceNeonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together

Pregnancy, smoking and birth outcomes

This review summarizes the epidemiology and consequences of maternal smoking in pregnancy, with emphasis on the adverse effects on birth outcomes. In developed countries, approximately 15%, and in developing countries, approximately 8% of women smoke cigarettes, and adolescents and women from lower socioeconomic groups are more likely than other women to smoke while pregnant. Maternal smoking during pregnancy is the largest modifiable risk factor for intrauterine growth restriction. A meta-analysis of recent studies showed that the pooled estimate for reduction of mean birthweight was 174 g (95% confidence limits 132–220 g). Other studies confirm a weaker association between maternal smoking and preterm birth. The population attributable risk of low birthweight due to maternal smoking in the UK is estimated to be 29–39%. Tobacco smoke toxins damage the placenta and may lead to placental abruption, abortion or placenta praevia. Infants of mothers who smoke in pregnancy are at an increased risk of respiratory complications including asthma, obesity and, possibly, behavioral disorders. These effects may be dose-related, as there is good evidence that mean birthweight decrements are greater with increased numbers of cigarettes smoked during pregnancy. Cotinine is a useful indicator of tobacco smoke exposure in pregnant women and higher levels in body fluids have been related to lower birthweights. Maternal genetic polymorphisms of the cytochrome P (CYP)450 and glutathione-S-transferase (GST) subfamilies of metabolic genes influence the magnitude of the effect of nicotine exposure on birth outcomes through their influence on nicotine metabolism. Greatly increased risk of cigarette smoke-induced diseases, including low birthweight, has been found in individuals with susceptible genotypes. Interventions to control maternal smoking are also considered