Correlation between prenatal ultrasound and postmortem findings in 1029 fetuses following termination of pregnancy.

OBJECTIVE: A prenatal ultrasound examination and a postmortem examination provide the basis for correct diagnosis in fetuses terminated due to congenital anomalies. The aim of this study was to correlate fetal anomalies detected by ultrasound examination with those identified at autopsy following termination of pregnancy (TOP) over a 30-year period, and to evaluate the correlation between findings at different gestational ages and assess these trends over time. METHODS: The study group consisted of 1029 TOPs performed over a 30-year period, from 1985 to 2014. The gestational age ranged between 11 and 33 weeks. Prenatal ultrasound examinations were performed at the National Center for Fetal Medicine, St Olavs Hospital, Trondheim, Norway. Autopsies were performed at the Department of Pathology and Medical Genetics at the same hospital or a collaborating hospital. RESULTS: There was full agreement between ultrasound and autopsy findings in 88.1% (907/1029) of TOPs, and the main diagnosis was correct in 97.9% (1007/1029). When comparing the 15-year period of 2000-2014 with that of 1985-1999, the difference in the rates of full agreement and agreement in the main diagnosis was statistically significant. In 1.3% (13/1029) of cases, ultrasound findings were not confirmed at autopsy. There were no false-positive diagnoses leading to TOP. Throughout the 30-year period, there was an increase in early TOPs, whereas late TOPs declined. CONCLUSIONS: Our study demonstrates that there is a clear correlation between ultrasound and autopsy findings, which is continuously improving. Despite this high correlation, there is reason to continue the practice of validation to ensure the safety of the diagnostic process leading to TOP. The trend towards an earlier termination emphasizes the necessity of such a practice. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Major congenital anomalies in a Danish region.

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant mortality decreased significantly over time for cases with major congenital anomalies (p < 0.001), whereas the number and proportion of TOPFA increased. Median GA at TOPFA decreased from 18 to 15 weeks. Among the congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant mortality for congenital anomaly cases have decreased significantly, probably owing to an increase in early prenatal diagnosis and TOPFA. FUNDING: The study was funded by Region of South Denmark. TRIAL REGISTRATION: not relevant.

The effect of a policy change on late termination of pregnancy in Israel.

OBJECTIVE: To compare approval rates of late termination of pregnancy (LTOP) requests before and after a policy change in Israel in late 2007. METHODS: In a retrospective study, LTOP requests and board decisions from 2002-2007 (group 1) were compared with those from 2007-2012 (group 2) at 3 university-affiliated medical centers in Israel. Reasons for application, approval, or rejection were compared between the groups. RESULTS: There were 552 applications for LTOP. The overall approval rate for LTOP and the specific approval rate per medical indication did not differ significantly between the groups. The rate of requests due to confirmed genetic anomalies decreased from 18.4% in group 1 to 11.3% in group 2 (P=0.03). Compared with group 1, the rate of rejection for intrauterine infection increased from 8.3% to 26.3% (P=0.2), and that for pregnancy complications decreased from 62.5% to 35.0% (P=0.2) in group 2 but these differences were not statistically significant. Requests due to structural anomalies were declined because they were considered to be minor cardiac, renal, cerebral, or skeletal anomalies. CONCLUSION: The more stringent 2007 criteria for approving requests for LTOP did not affect the rate of rejection of requests due to structural anomalies between the 2 time periods.

Unchanged prevalence of Down syndrome in the Netherlands: results from an 11-year nationwide birth cohort.

OBJECTIVE: This study aims to evaluate trends in prevalence of Down syndrome (DS) births in the Netherlands over an 11-year period and how they have been affected by maternal age and introduction of prenatal screening. METHOD: Nationwide data of an 11-year birth cohort (1997-2007) from the Netherlands Perinatal Registry were analyzed. First-trimester combined screening was introduced in 2002, free of charge only for women 36 years of age or older and only on patients' request. Changes in maternal age, prevalence of DS births, and rates of births at <24 weeks (legal limit for termination of pregnancy in the Netherlands) during the study period were evaluated using logistic and linear regression analyses. RESULTS: In total, 1,972,058 births were registered (91% of the births in 1997-2007). Mean prevalence of DS was 14.57 per 10,000 births (95% confidence interval 14.43; 14.73); 85% of DS were live births. No significant trend in overall prevalence of DS births was observed (p = 0.385), in spite of a significant increase of mean maternal age during the same period (p < 0.001). The increased prevalence of DS births at ≥ 24 weeks among women ≥ 36 years of age (p = 0.011) was offset by a significant increase in the proportion of DS births at <24 weeks among women aged <36 years (p = 0.013). CONCLUSION: The proportion of DS births in the Netherlands has not changed during the period 1997-2007.

Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011).

OBJECTIVE: The objective of this study was to review the published literature on pregnancy termination following a prenatal diagnosis of Down syndrome in the United States. METHOD: A systematic search of US English-language articles (1995-2011) was conducted to identify primary research studies that reported data for pregnancies with definitive prenatal diagnosis of Down syndrome with subsequent pregnancy termination. Studies that provided indirect estimates of pregnancy termination, such as mathematical models, were excluded. The weighted mean termination rate was calculated across studies. RESULTS: Twenty-four studies were accepted. The weighted mean termination rate was 67% (range: 61%-93%) among seven population-based studies, 85% (range: 60%-90%) among nine hospital-based studies, and 50% (range: 0%-100%) among eight anomaly-based studies. Evidence suggests that termination rates have decreased in recent years. Termination rates also varied with maternal age, gestational age, and maternal race/ethnicity. CONCLUSION: This systematic review presents the largest synthesis of United States data on termination rates following a prenatal diagnosis of Down syndrome. Evidence suggests that termination rates are lower than noted in a previous review that was based on less contemporary studies and had an international focus. Heterogeneity across studies suggests that a summary termination rate may not be applicable to the entire US population.

Trends in selective abortions of girls in India: analysis of nationally representative birth histories from 1990 to 2005 and census data from 1991 to 2011.

BACKGROUND: India's 2011 census revealed a growing imbalance between the numbers of girls and boys aged 0-6 years, which we postulate is due to increased prenatal sex determination with subsequent selective abortion of female fetuses. We aimed to establish the trends in sex ratio by birth order from 1990 to 2005 with three nationally representative surveys and to quantify the totals of selective abortions of girls with census cohort data. METHODS: We assessed sex ratios by birth order in 0·25 million births in three rounds of the nationally representative National Family Health Survey covering the period from 1990 to 2005. We estimated totals of selective abortion of girls by assessing the birth cohorts of children aged 0-6 years in the 1991, 2001, and 2011 censuses. Our main statistic was the conditional sex ratio of second-order births after a firstborn girl and we used 3-year rolling weighted averages to test for trends, with differences between trends compared by linear regression. FINDINGS: The conditional sex ratio for second-order births when the firstborn was a girl fell from 906 per 1000 boys (99% CI 798-1013) in 1990 to 836 (733-939) in 2005; an annual decline of 0·52% (p for trend=0·002). Declines were much greater in mothers with 10 or more years of education than in mothers with no education, and in wealthier households compared with poorer households. By contrast, we did not detect any significant declines in the sex ratio for second-order births if the firstborn was a boy, or for firstborns. Between the 2001 and 2011 censuses, more than twice the number of Indian districts (local administrative areas) showed declines in the child sex ratio as districts with no change or increases. After adjusting for excess mortality rates in girls, our estimates of number of selective abortions of girls rose from 0-2·0 million in the 1980s, to 1·2-4·1 million in the 1990s, and to 3·1-6·0 million in the 2000s. Each 1% decline in child sex ratio at ages 0-6 years implied 1·2-3·6 million more selective abortions of girls. Selective abortions of girls totalled about 4·2-12·1 million from 1980-2010, with a greater rate of increase in the 1990s than in the 2000s. INTERPRETATION: Selective abortion of girls, especially for pregnancies after a firstborn girl, has increased substantially in India. Most of India's population now live in states where selective abortion of girls is common. FUNDING: US National Institutes of Health, Canadian Institute of Health Research, International Development Research Centre, and Li Ka Shing Knowledge Institute.

[Should medicine encourage doing? Biomedical engineering ideals and the issue of improving humans]. / La médecine doit-elle encourager le dopage? L'idéal de l'ingénieur en biomédecine et la question de l'amélioration de l'humain.

In the contemporary biomedicine, the new medicines and technologies can be used not only to cure the patients but also to enhance human capacities: genetic design, alteration of cognitive and emotional functions, increase in life-span, or to boost performances in sport... This evolution represents a paradigmatic change in the medical practice. It is not the mere restoration of health which is expected anymore. What is required is "the perfectibility of the human being". In this article, the emergence of the "enhancement technologies" is examined from an ethical and philosophical perspective.

[Towards social eugenics. Ideology and bioethics in the construction of the social policy]. / Hacia la eugenesia social. Ideología y bioética en la construcción de la política social.

The social eugenics is the real face of the biomedical application of an ideological paradigm, self-styled like "progressive", that claims the radical transformation of the western society from laicist and utilitarians positions. This article tries to decipher the historical roots, the bioethical language and the political - social implications of this paradigm, which questions the essential dignity of any human life in benefit of "new rights", constructed ex professo. For it, it exposes three analytical dimensions of his "historical possibilities" (retrospective, perspective and Forward studies), taking as an example the role of the social Policy, and especially, the doctrinal and institutional paradoxes of the "Welfare state" in Spain.

Prenatal diagnosis and selective abortion: a result of the cultural turn?

There is a growing trend in obstetric medicine of prenatal diagnosis and the selective abortion of foetuses that are likely to be born with a disability. Reasons commonly given to explain this trend include the financial implications of screening and testing policies, the disruption to families caused by the birth of a child with a disability, and the potential quality of life of the unborn child. This paper reflects upon another possible reason for this. It is argued that it is, in part, a consequence of our attitudes towards disability and a pursuit of aesthetic perfection. These attitudes arise from a social context that may be explained by considering the effect on the disabled community of the transition from modernity to postmodernity. This shift is demonstrated by inspecting some of the synonymous developments in art history. It is suggested that this "cultural turn" may have both helped and hindered people with disabilities, but the hypothesis requires further testing. This could best be achieved with a qualitative study of what motivates parental decision making in the obstetric unit.

The influence of prenatal screening and termination of pregnancy on perinatal mortality rates.

OBJECTIVES: This study concerns the possible effect of practice of prenatal screening of congenital anomalies followed by termination of pregnancy on the perinatal mortality between European countries. METHODS: Data of nine region-specific EUROCAT registries from five European countries were used to compare the pregnancy termination rate and perinatal mortality due to congenital anomalies between the registries. The impact of pregnancy terminations on the perinatal mortality rate was estimated using a calculated lethality for each congenital anomaly in the hypothetical case that no pregnancy terminations had been performed and was expressed in the 'natural' perinatal mortality rate. RESULTS: There are large differences between the EUROCAT registries in the number of pregnancy terminations for congenital anomalies. The difference between the 'natural' and regular perinatal mortality rate vary between 3.7 and 14.1 per 10 000 live births and stillbirths. The difference is greater in regions where prenatal screening is more common than in regions where this is not common. CONCLUSION: Differences in practice of prenatal screening and termination of pregnancy of congenital anomalies contribute to the variations in the overall perinatal mortality rate between European regions and countries.

Alteración de mecanismos moleculares y activación abortiva en oocitos humanos durante las fallas de fecundación: aspectos biológicos / Alteration of molecular mechanisms and abortive activation in human oocytes during the failures of fertilization

Introducción: Los primeros estudios relacionados con falla de fecundación en humanos se concentraron en la citogenética del oocito. Más recientemente, los avances en imágenes digitales y microscopía de fluorescencia han permitidos investigar eventos menos conocidos como la movilidad citoplásmica de los pronúcleos masculino y femenino y los mecanismos físicos que dirigen su unión. Objetivo: Analizar cualitativa y cuantitativamente oocitos no fecundados luego de FIV e ICSI, haciendo hincapié en la organización del citoesqueleto, estado de la cromatina, organización del áster y presencia de activaciones abortivas. Materiales y Métodos: Se estudiaron 248 oocitos clasificados como "no fecundados" luego de fertilización in vitro (FIV) e inyección intracitoplásmica de espermatozoides (ICSI) 20-40 hs post inseminación o inyección. El material se procesó para inmunofluorescencia mediante la utilización de anticuerpos monoclonales para la detección de O y ß tubulinas y O tubulinas acetiladas. El material genético se estudió por tinción con Hoechst 33258 y se analizó por microscopía óptica (UV). El análisis citogenético se realizó en 69 oocitos activados luego de ICSI de acuerdo a la técnica de Tarkowski (1966). Los resultados se analizaron estadísticamente mediante el test de Chi cuadrado. Resultados y Discusión: Inmunofluorescencia: 1) FIV: La principal causa de falla de fecundación luego de FIV fue la ausencia de penetración espermática (54,9 por ciento). De los restantes oocitos estudiados, el 11,4 por ciento mostraron una falla de activación oocitaria y el 23,9 por ciento presentaron fallas en los procesos de nucleación o migración de pronúcleos. 2) ICSI: La principal causa de falla de fecundación luego de ICSI resultó ser la falla de activación oocitaria (36,5 por ciento). Un 14,6 por ciento de los oocitos remanentes detuvieron su desarrollo en la primera placa metafásica. En general, las fallas detectadas luego de FIV ó ICSI resultaron cuantitativamente diferentes. Análisis cromosómico en oocitos activados post ICSI: El estudio cromosómico permitió identificar la presencia de activaciones abortivas, incluyendo metafases III (MIII), núcleos reticulares (NR) y núcleos telofásicos (NT) (AU)