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Background Fetal Growth restriction (FGR) is the pathological failure of a fetus to reach its biologically determined growth potential. Detection of FGR fetuses is a universally agreed key objective of antenatal care. Antenatal detection of FGR has undeniable benefits, juggling between intensive fetal surveillance and optimized timing of delivery; it reduces adverse perinatal outcomes by up to four-fold. However, FGR is still widely underdiagnosed. We aimed to identify the prevalence of FGR diagnosis in our wards and study the impact of the 2013 published French guidelines on the detection rate of FGR. The secondary objective aimed to highlight the factors of suboptimal screening in the population of non-diagnosed FGR fetuses and emphasize the screening method that led to antenatal diagnosis of FGR. Materials and methods We conducted a retrospective study at a single tertiary maternity center in Lyon-France, the Femme Mère Enfant Hospital, including the exhaustive population of FGR born after 24 + 0 weeks of gestation from 1 January 2011 to 31 December 2017. FGR was defined combining the neonatal and antenatal consensus-based definitions for early and late FGR in absence of congenital anomalies, excluding small for gestational age fetuses. For all FGR fetuses, we compared the antenatal detection rate of FGR during 2011–2013 to 2015–2017, since the French guidelines were published in December 2013. When FGR fetuses underwent an antenatal diagnosis of FGR, we retrospectively collected the characteristics that led to the diagnosis. When fetuses were not diagnosed as FGR, we retrospectively reviewed the implementation of the recommended screening method, enabling to evaluate whether screening was optimal or not. Statistical analysis was performed in July 2018, and statistical significance was regarded as a p-value <.05. Results Over the seven-year period, and among 31,052 newborns, 1020 (3.3%) infants were identified as FGR and met the inclusion criteria. The detection rate of FGR was similar before and after publication of the French Guidelines related to FGR in 2013. Indeed, 50.8% (201/395) FGR were diagnosed between 2011 and 2013 versus 52.6% (245/465) between 2015 and 2017 (p = .59). In the population of non-diagnosed FGR infants, screening was suboptimal in 80%. Symphysis-fundal height (SFH) was not measured in 10.7%, with no difference before and after 2014 (7.3 versus 11.8% p = .11). Ultrasound examination for fetal biometry had not been prescribed in spite of abnormal SFH in 47.7% of undiagnosed FGR infants. Diagnosis has been missed in 11.5% of infants because of misinterpretation of the estimated fetal weight’s centile. Conclusion FGR is widely underdiagnosed. However, the limited performances can partially be explained by the regular misuse of screening method in clinical practice. Despite the systematic third trimester ultrasound screening, the detection rate of FGR was similar to the one reported in the medical literature. The timing of routine third trimester ultrasound in low-risk women may be rethought. [ABSTRACT FROM AUTHOR]

Background: Previous studies showed disparities in prenatal screening for Down syndrome according to socio-economic status and maternal place of birth. Thus, it remains uncertain that those disparities are related to access difficulties or lack of information offered to women. Our objective was to assess the opportunity for informed choice regarding Down syndrome screening according to maternal place of birth. Methods: Data were based on French national perinatal surveys of 2010 and 2016. These surveys include several questions relative to Down syndrome screening, such as measurement of nuchal translucency and realization of maternal serum screening. We considered that women had the opportunity for choice in case of realization or refusal of prenatal screening, or realization of amniocentesis or chorionic villous sampling. We considered that women had no opportunity for choice in case of ignorance of the realization of the tests, or if the screening has not been performed because not proposed, late prenatal follow-up, or another reason or unknown reason. We used multinomial logistic regression models to assess the association between the use of the tests and women country of birth. Results: The proportion of women undergoing measurement of nuchal translucency or maternal serum screening was higher in women born in France than women born in another country After adjustment on the year of the survey, maternal age, parity, education level and type of maternity, and after exclusion of women without adequate prenatal follow-up, the opportunity for making an informed choice for Down syndrome screening was higher for women born in France than women born in another European country (ORa 2.36; 95%CI,1.8-3.0), in Maghreb (ORa 4.01; 95%CI,3.4-4.8) or in another African country (ORa 3.52(2.8-4.3). Conclusions: Disparities in the use of Down syndrome screening according to women place of birth are almost partly related to differences in the opportunity of an informed choice. [ABSTRACT FROM AUTHOR]

Developments in biomedicine have remodelled the time-honoured questions of how to define the normal and the connection between the normal and the norm. This article deals with the expansion of the idea of abnormality through a study of the practices involved in neonatal screening for cystic fibrosis in France. It is based on observations made at meetings between paediatricians and geneticists involved in the screening programme, and a seven-month study in a tertiary care centre for cystic fibrosis. On one hand, the study highlights the technical limitations of screening, which have the effect of expanding biological abnormality. On the other, it deals with the rationales and associated practices used by health care professionals for paediatric monitoring that are behind the expansion of clinical abnormality. Lastly, the consequences of those practices are analysed at the point where neonatal screening and prenatal diagnosis meet, showing how the biomedical norm, with respect to foetuses, is altered. The political and moral space in which this development has occurred is discussed. [Copyright &y& Elsevier]

SummaryBackground: Neonatal screening for cystic fibrosis has been a subject of debate over the past few years. This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child.Methods: The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated.Findings: Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. The mean cost of the screening programme was US$2.32 per screened child. 39 (34%) of the families identified by neonatal screening opted for subsequent prenatal diagnosis at least once. 12 couples would have benefited from this procedure while their first child was still symptom-free. 42 healthy children were born, and 18 pregnancies were terminated (therapeutic abortion rate of 100%).Interpretation: We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described here could provide a good model for other countries intending to initiate such a scheme. [ABSTRACT FROM AUTHOR]

Abstract: Ultrasonography has become an indispensable tool in prenatal care providing a throughout screening of the morphological abnormalities of the foetus. The examination of the upper limbs is now part of a routine screening checklist available in France since 2005. Recent progress in past years has focused on the early detection of reductional anomalies. As early as the first trimester scan, the three segments of the upper limb are apparent and transversal anomalies can be easily detected. Early diagnosis of malformations may lead to ethical considerations since women may request for medical termination of pregnancy. Apart from transversal anomalies of the limb which remain most of the time accidental, genetic syndromes may also lead to longitudinal reductions of the upper limb. In such cases, ultrasound may be helpful in genetic counselling by detecting other associate malformations. The search for associate malformations in favour of a genetic syndrome is therefore mandatory before referral to a prenatal consultation with the surgeon. Three-dimensional ultrasound and multi detector computed tomography (MDCT) are being increasingly used as additional procedures to improve diagnosis and long-term prognosis. [Copyright &y& Elsevier]