Search results for "prenatal"
showing 10 items of 419 documents
Structural effects and neurofunctional sequelae of developmental exposure to psychotherapeutic drugs: experimental and clinical aspects
2004
The advent of psychotherapeutic drugs has enabled management of mental illness and other neurological problems such as epilepsy in the general population, without requiring hospitalization. The success of these drugs in controlling symptoms has led to their widespread use in the vulnerable population of pregnant women as well, where the potential embryotoxicity of the drugs has to be weighed against the potential problems of the maternal neurological state. This review focuses on the developmental toxicity and neurotoxicity of five broad categories of widely available psychotherapeutic drugs: the neuroleptics, the antiepileptics, the antidepressants, the anxiolytics and mood stabilizers, an…
Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis
2022
Cockayne’s syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility of earlier prenatal diagnosis of CS by coelocentesis at 8 weeks of gestation respect to amniocentesis or villocentesis. Three couples at risk for CS asked to perform prenatal diagnosis by coelocentesis. Coelomic fluid was aspired from coelomic cavity in four singleton pregnancy at 8 weeks of gestation and 40 foetal cells were recovered by micromanipulator. Maternal DNA contamination was evaluated by quantitative fluorescent PCR (QF-PCR) and target regions of foetal DNA containing parental mutations of ERCC6 gene were amplified a…
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
2006
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…
Why People Born During World War II are Healthier
2017
War leads civilians to suffer. This can take extreme forms, such as during periods of intense violence or famines. But also outside of such episodes, civilians’ lives during wars can be harsh, as they suffer from poorer nutritional situations, stress, recessions, and sub optimally functioning health care systems. The more extreme types of suffering are proven to lead to a worse health among those prenatally exposed to them. But long-run effects of prenatal exposure to the latter circumstances have thus far largely been unexplored, even though in many wars more pregnant women are exposed to these “everyday” circumstances than to the extreme circumstances. We study the general, population-wid…
Fasting During Pregnancy and Children's Academic Performance
2011
Conventionally studied educational interventions tend to be costly and may be subject to “fade out”. In contrast, experiences during the prenatal period can have large and persistent effects on academic performance, even when quite brief. In this paper, we consider a relatively mild and commonly-experienced prenatal exposure – that occasioned by daytime fasting during the lunar month of Ramadan. In register data from England, we find that test scores at age seven are approximately .05 to .08 standard deviations lower for Pakistani and Bangladeshi students exposed to Ramadan in early pregnancy. We argue these “intent to treat” estimates are downward biased relative to fasting’s effect due to…
In UteroRamadan Exposure and Children's Academic Performance
2014
A large literature has linked the in utero environment to health in adulthood. We consider how prenatal nutrition may shape human capital acquisition in childhood, utilising the month-long Ramadan fast as a natural experiment. In student register data for Pakistani and Bangladeshi families in England, we examine whether Ramadan's overlap with pregnancy affects subsequent academic outcomes at age 7. We find that test scores are 0.05-0.08 standard deviations lower for students exposed to Ramadan in early pregnancy. Our results suggest that brief prenatal investments may be more cost effective than traditional educational interventions in improving academic performance.
Fetal presentation of Morquio disease type A.
1992
A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsu…
Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta
2014
BACKGROUND: Prenatal exposure to endocrine disrupting compounds (EDCs) has previously shown to alter epigenetic marks. OBJECTIVES: In this work we explore whether prenatal exposure to mixtures of xenoestrogens has the potential to alter the placenta epigenome, by studying DNA methylation in retrotransposons as a surrogate of global DNA methylation. METHODS: The biomarker total effective xenoestrogen burden (TEXB) was measured in 192 placentas from participants in the longitudinal INMA Project. DNA methylation was quantitatively assessed by bisulfite pyrosequencing on 10 different retrotransposons including 3 different long interspersed nuclear elements (LINEs), 4 short interspersed nuclear …
Paper 6: EUROCAT member registries: organization and activities.
2011
BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…
Sonographic Prognostic Factors in Prenatal Diagnosis of SCT
2003
<i>Objective:</i> A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic factors regarding tumor morphology and vascularity associated with the development of hydrops in utero. <i>Methods:</i> Over a 10-year period, we identified 7 fetuses with SCT diagnosed antenatally and managed at the University of Mainz. We retrospectively reviewed the charts of mothers and infants and recorded data on prenatal diagnosis, tumor si…