Publications by authors named "Mary T O'Mahony"

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC.

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Background: In Ireland, a 'COVID-19 death' is defined as any death in which the decedent was COVID-19 positive and had no clear alternative cause of death unrelated to COVID-19, a definition based on World Health Organization guidance.

Aims: The objectives of this audit were to determine the proportion of COVID-19 deaths notified in the Cork/Kerry region of Ireland during winter 2021-2022 which adhered to this national definition, and to determine whether COVID-19 was deemed to be the primary cause of death, or a contributory or incidental factor.

Methods: A review of all deaths in individuals who were COVID-19 positive at the time of death notified to the Department of Public Health for Cork and Kerry between 22 November 2021 and 31 January 2022 was conducted to determine whether each death adhered to the national COVID-19 death definition.

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  • Younger mothers in the UK face a higher risk of pregnancy complications like gastroschisis, which is linked to vascular disruptions, prompting a study to explore the prevalence of other similar anomalies in this demographic.
  • An analysis of data from 26 European congenital anomaly registries revealed that the UK had a significantly higher prevalence of vascular disruption anomalies (8.85 per 10,000 births) compared to other European countries (5.44 per 10,000 births), even after adjusting for maternal age.
  • The study found that younger mothers had increased rates of anomalies like gastroschisis and congenital constriction bands, while anomalies with weaker links to maternal age, such as transverse limb reduction defects,
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  • Aplasia cutis congenita (ACC) is a rare skin condition present at birth, primarily affecting the scalp, with most knowledge derived from individual case reports and small studies.
  • This study utilized data from a large European network (EUROCAT) to assess the prevalence and trends of ACC across 28 registries in 16 European countries, finding 500 cases from 1998-2017.
  • Results showed an ACC prevalence of 5.10 per 100,000 births, with significant prevalence variation across regions, and many cases (33.8%) were associated with other congenital anomalies, particularly Patau syndrome and limb defects.
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Over 19,000 residents and health-care workers in 315 RCFs were swabbed in a once - off mass swabbing of residents and staff in residential care facilities (RCFs) in the Cork/Kerry region in Ireland in April and May 2020. This exercise was in response to epidemiological evidence demonstrating increasing community transmission of COVID-19 and emerging evidence of the vulnerability of older persons, particularly those with underlying medical conditions. The effectiveness of such strategies is uncertain and may depend on both the positive case yield and efficiency of testing turn-around to ensure that timely control measures are put in place.

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Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending that women take 0.4 mg folic acid before becoming pregnant and during the first trimester, the prevalence of NTD pregnancies has not materially decreased in the EU since 1998, in contrast to the dramatic fall observed in the USA.

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  • Pierre Robin sequence (PRS) is a rare birth defect primarily causing respiratory and feeding challenges, and this study aimed to understand its epidemiology through data collected across Europe from 1998-2017.
  • Out of over 11 million births, 1,294 cases of PRS were identified, resulting in a prevalence rate of 12 per 100,000 births, with isolated cases being more common than those associated with other anomalies.
  • Findings indicated that older maternal age is linked to a higher prevalence of PRS, while survival rates were significantly lower for cases with additional chromosomal or structural anomalies compared to isolated cases, suggesting a need for further research into the factors contributing to PRS.
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Background: Schools in Ireland closed in March 2020 as part of a national strategy to contain the spread of severe acute respiratory syndrome (SARS-CoV-2). The extent to which schools contribute to the overall propagation of SARS-CoV-2 was continuing to evolve internationally.

Aims: To examine regional data on SARS-CoV-2 transmission in primary, post-primary and special schools in Cork and Kerry, two counties in southwest Ireland, during the first 6 weeks of the 2020-2021 academic year and determine the rate of in-school transmission.

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  • * A large European case-control study analyzed data from 329 VACTERL cases and over 49,000 control subjects, focusing on maternal factors like age, assisted reproductive techniques (ART), and pre-existing health conditions.
  • * Findings revealed that ART use, pregestational diabetes, and chronic lung diseases significantly increased the risk of VACTERL in children, while having twins did not show a correlation with this condition.
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Background: Public health organisations use public health indicators to guide health policy. Joint analysis of multiple public health indicators can provide a more comprehensive understanding of what they are intended to evaluate.

Objective: To analyse variaitons in the prevalence of congenital anomaly-related perinatal mortality attributable to termination of pregnancy for foetal anomaly (TOPFA) and prenatal diagnosis of congenital anomaly prevalence.

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Background: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes.

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  • Dandy-Walker malformation is a rare congenital brain defect that affects the cerebellum and fourth ventricle, and this study aimed to investigate its prevalence and detection in Europe.
  • Researchers analyzed data from 28 registries across 17 countries, finding 734 cases of Dandy-Walker malformation and variants, with a prevalence of 6.79 cases per 100,000 births.
  • The study revealed that about 87.6% of cases were detected prenatally, and more than half of the identified cases resulted in pregnancy terminations due to associated anomalies.
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  • * The prevalence of achondroplasia was found to be 3.72 per 100,000 births, with significant findings that early prenatal detection improved over time (71% in 2011-2015 compared to 36% in 1991-1995).
  • * It was noted that about 10% of cases had major associated congenital anomalies, and older paternal age (fathers over 34) was linked to a higher risk of de novo achondroplasia, while familial cases accounted for approximately
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  • - This study analyzes the prevalence and geographical differences of congenital cerebral anomalies in Europe, using data from 29 EUROCAT registries that cover approximately 1.7 million births each year.
  • - A total of 4,927 cases were identified, resulting in an adjusted prevalence of 9.8 per 10,000 births, with significant variation seen across different registries; higher prenatal diagnosis rates correlated with higher prevalence.
  • - The findings reveal that only 55% of cases were live births, and that many cases were associated with non-cerebral or chromosomal anomalies, with increases in prevalence linked to improved diagnoses over time (2005-2014).
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Women with epilepsy need to continue to take anticonvulsants during their pregnancies to prevent seizures from occurring. Since the 1980's, it has been known that the use of valproate (an anticonvulsant) in the first trimester of pregnancy is associated with an increased risk of spina bifida. Recent studies have also demonstrated increased risks of other congenital anomalies as well as a risk of cognitive impairment.

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Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT).

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Objectives:  To provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe, and evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies).

Design:  Questionnaire and population based observational study.

Setting:  24 EUROCAT registries covering 570 000 births annually in 15 countries.

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Study Question: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist?

Methods: This was a population based, observational study using data on 11,353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends.

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The EU Control of Major Accidents Hazards Directive (Seveso II) requires an external emergency plan for each top tier site. This paper sets out a method to build the protection of public health into emergency planning for Seveso sites in the EU. The method involves the review of Seveso site details prescribed under the directive.

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