Patricia A Boyd

Hôpital Saint-Vincent-de-Paul – Hôpitaux universitaires Paris Centre, Lutetia Parisorum, Île-de-France, France

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Publications (32)110.63 Total impact

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    ABSTRACT: Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 03/2013; · 2.30 Impact Factor
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    ABSTRACT: The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe. Cases of SIA delivered during January 1990 to December 2006 notified to 20 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. In total 1133 SIA cases were reported among 5126, 164 registered births. Of 1044 singleton cases, 215 (20.6%) cases were associated with a chromosomal anomaly. Of 829 singleton SIA cases with normal karyotype, 221 (26.7%) were associated with other structural anomalies. Considering cases with normal karyotype, the total prevalence per 10 000 births was 1.6 (95% CI 1.5 to 1.7) for SIA, 0.9 (95% CI 0.8 to 1.0) for duodenal atresia and 0.7 (95% CI 0.7 to 0.8) for jejunoileal atresia (JIA). There was no significant trend in SIA, duodenal atresia or JIA prevalence over time (RR=1.0, 95% credible interval (CrI): 1.0 to 1.0 for each), but SIA and duodenal atresia prevalence varied by geographical location (p=0.03 and p=0.04, respectively). There was weak evidence of an increased risk of SIA in mothers aged less than 20 years compared with mothers aged 20 to 29 years (RR=1.3, 95% CrI: 1.0 to 1.8). This study found no evidence of a temporal trend in the prevalence of SIA, duodenal atresia or JIA, although SIA and duodenal atresia prevalence varied significantly between registers.
    Archives of Disease in Childhood - Fetal and Neonatal Edition 09/2012; 97(5):F353-8. · 3.45 Impact Factor
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    ABSTRACT: OBJECTIVES: To examine trends in the prevalence of congenital heart defects (CHDs) in Europe and to compare these trends with the recent decrease in the prevalence of CHDs in Canada (Quebec) that was attributed to the policy of mandatory folic acid fortification. STUDY DESIGN: We used data for the period 1990-2007 for 47 508 cases of CHD not associated with a chromosomal anomaly from 29 population-based European Surveillance of Congenital Anomalies registries in 16 countries covering 7.3 million births. We estimated trends for all CHDs combined and separately for 3 severity groups using random-effects Poisson regression models with splines. RESULTS: We found that the total prevalence of CHDs increased during the 1990s and the early 2000s until 2004 and decreased thereafter. We found essentially no trend in total prevalence of the most severe group (group I), whereas the prevalence of severity group II increased until about 2000 and decreased thereafter. Trends for severity group III (the most prevalent group) paralleled those for all CHDs combined. CONCLUSIONS: The prevalence of CHDs decreased in recent years in Europe in the absence of a policy for mandatory folic acid fortification. One possible explanation for this decrease may be an as-yet-undocumented increase in folic acid intake of women in Europe following recommendations for folic acid supplementation and/or voluntary fortification. However, alternative hypotheses, including reductions in risk factors of CHDs (eg, maternal smoking) and improved management of maternal chronic health conditions (eg, diabetes), must also be considered for explaining the observed decrease in the prevalence of CHDs in Europe or elsewhere.
    The Journal of pediatrics 07/2012; · 4.02 Impact Factor
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    ABSTRACT: To review changes in and impact of prenatal screening and diagnosis. Population-based congenital anomaly register study. Oxfordshire. Congenital anomalies confirmed and those suspected prenatally, delivered 1991-2008. Analysis of proportions of congenital anomalies confirmed and those suspected prenatally. Birth prevalence, prenatal detection rates, pregnancy outcomes. A total of 2651 (2.3%) infants/fetuses had a congenital anomaly diagnosed. There were 3839 suspected or confirmed cases, 2847 due to a prenatal suspicion, of which 1659 had an anomaly confirmed at delivery, and 1188 false-positive diagnoses, 91% due to reporting ultrasound normal variants. The percentage of prenatal notifications rose from 48% in 1991-93 to 83-88% from 1996 to 2003 and dropped to 61% in 2006-08, partly reflecting changes in the reporting of normal variants. Reporting these increased the prenatal diagnosis rate from 53 to 63% with an increase in false-positive rate from 0.09 to 1.04%. A total of 722 (44% of prenatally detected affected fetuses) resulted in termination; 48% of these had chromosome anomalies, 34% had isolated structural anomalies, 7% had multiple anomalies, 10% had familial disorders; 42% had lethal anomalies and 58% would probably have survived the neonatal period giving an estimated 20% reduction in birth prevalence of congenital anomalies compatible with survival because of terminations. There has been an improvement in prenatal detection of congenital anomalies over the two decades studied. The recognition that reporting normal variants, although increasing prenatal detection rates, leads to an increase in false-positive diagnoses has had an impact on practice that has redressed the balance between these two effects.
    BJOG An International Journal of Obstetrics & Gynaecology 06/2012; 119(9):1131-40. · 3.76 Impact Factor
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    ABSTRACT: BACKGROUND: The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe. METHODS: Cases of SIA delivered during January 1990 to December 2006 notified to 20 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. RESULTS: In total 1133 SIA cases were reported among 5126, 164 registered births. Of 1044 singleton cases, 215 (20.6%) cases were associated with a chromosomal anomaly. Of 829 singleton SIA cases with normal karyotype, 221 (26.7%) were associated with other structural anomalies. Considering cases with normal karyotype, the total prevalence per 10 000 births was 1.6 (95% CI 1.5 to 1.7) for SIA, 0.9 (95% CI 0.8 to 1.0) for duodenal atresia and 0.7 (95% CI 0.7 to 0.8) for jejunoileal atresia (JIA). There was no significant trend in SIA, duodenal atresia or JIA prevalence over time (RR=1.0, 95% credible interval (CrI): 1.0 to 1.0 for each), but SIA and duodenal atresia prevalence varied by geographical location (p=0.03 and p=0.04, respectively). There was weak evidence of an increased risk of SIA in mothers aged less than 20 years compared with mothers aged 20 to 29 years (RR=1.3, 95% CrI: 1.0 to 1.8). CONCLUSION: This study found no evidence of a temporal trend in the prevalence of SIA, duodenal atresia or JIA, although SIA and duodenal atresia prevalence varied significantly between registers.
    Archives of Disease in Childhood - Fetal and Neonatal Edition 02/2012; · 3.45 Impact Factor
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    ABSTRACT: The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.
    European journal of human genetics: EJHG 01/2012; 20(5):521-6. · 3.56 Impact Factor
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    ABSTRACT: Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue. Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters). Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation. Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
    Archives of Disease in Childhood 10/2011; 96(10):954-9. · 3.05 Impact Factor
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    ABSTRACT: 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. Each registry description provides information on the history and funding of the registry, population coverage including any changes in coverage over time, sources for ascertaining cases of congenital anomalies, and upper age limit for registering cases of congenital anomalies. It also details the legal requirements relating to termination of pregnancy for fetal anomalies, the definition of stillbirths and fetal deaths, and the prenatal screening policy within the registry. Information on availability of exposure information and denominators is provided. The registry description describes how each registry conforms to the laws and guidelines regarding ethics, consent, and confidentiality issues within their own jurisdiction. Finally, information on electronic and web-based data capture, recent registry activities, and publications relating to congenital anomalies, along with the contact details of the registry leader, are provided. The registry description gives a detailed account of the organizational and operational aspects of each registry and is an invaluable resource that aids interpretation and evaluation of registry prevalence data.
    Birth Defects Research Part A Clinical and Molecular Teratology 03/2011; 91 Suppl 1:S51-S100. · 2.27 Impact Factor
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    Patricia A Boyd, Martin Haeusler, Ingeborg Barisic
    Birth Defects Research Part A Clinical and Molecular Teratology 03/2011; 91 Suppl 1:S1. · 2.27 Impact Factor
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    ABSTRACT: The European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe, funded by the European Union, which has been in operation for more than 30 years. It currently surveys more than 1.7 million births per year, including 31% of births in the European Union, and includes almost all population-based European congenital anomaly registries as its members. EUROCAT member registries collect data, ascertained from multiple sources, on all major structural congenital and chromosomal anomalies. EUROCAT surveillance relates to three areas: prevalence, primary prevention, and prenatal screening. This article describes the history of EUROCAT and gives an overview of the current methodology and work of EUROCAT covering the database content and management, coding and classification of anomalies, core surveillance, prevalence tables, statistical monitoring. The monitoring of new developments in prenatal diagnosis, medication during pregnancy, use of folic acid, and investigation of clusters and exposures are overseen by working groups responsible for organizing research and producing regular reports. The EUROCAT Web site includes current data on prevalence rates and prenatal detection rates-an example of information useful to clinicians, public health service managers, and patients.
    Birth Defects Research Part A Clinical and Molecular Teratology 03/2011; 91 Suppl 1:S2-15. · 2.27 Impact Factor
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    ABSTRACT: This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.
    European journal of human genetics: EJHG 02/2011; 19(2):231-4. · 3.56 Impact Factor
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    ABSTRACT: To provide current population-based prevalence and prenatal diagnosis rates (PND) for specified major congenital anomalies in England and Wales to enable monitoring of the Fetal Anomaly Screening Programme (FASP). Secondary analysis of prospectively collected registry data. Seven multiple-source, population-based congenital anomaly registers, members of the British Isles Network of Congenital Anomaly Registers (BINOCAR) in 2005 and 2006. 2,883 births with congenital anomalies from a total of 601,545 live and stillbirths. PND and birth prevalence of selected congenital anomaly groups/subtypes (anencephaly, spina-bifida, serious cardiac, diaphragmatic hernia, gastroschisis, exomphalos, bilateral renal agenesis, lethal/severe skeletal dysplasia, cleft lip with or without cleft palate [CL + /- P]). Of the selected anomaly groups, the most frequently reported were serious cardiac (14.1 per 10,000 births [95% CI 13.0-15.2]) and CL + /- P (9.7 per 10,000 births [8.9-10.5]); the least frequent were bilateral renal agenesis and lethal/severe skeletal dysplasia (< 1.5 per 10,000 births). The PND varied for different anomalies from 53.1% (95% CI 43.5-65.2) for serious cardiac anomalies to 99.6% (95% CI 97.9-100.0) for anencephaly. Least variation in PND rates was for anencephaly (range 98.9-100%) and gastroschisis (93.5-100%); greatest variation was for serious cardiac (43.5-65.2%) and lethal/severe skeletal dysplasias (50.0-100%). BINOCAR registers can, uniquely, provide contemporary data on PND and birth prevalence rates to enable monitoring of the ultrasound component of FASP at a national and regional level, allowing comparisons between populations to be made, planning of resources facilitated and assistance for parents making informed decisions on whether to enter the screening programme.
    Journal of Medical Screening 01/2011; 18(1):2-7. · 2.35 Impact Factor
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    Ester Garne, Helen Dolk, Maria Loane, Patricia A Boyd
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    ABSTRACT: The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be useful for comparative purposes to clinicians and public health service managers involved in the antenatal care of pregnant women as well as those interested in perinatal epidemiology.
    Journal of Medical Screening 01/2010; 17(2):97-8. · 2.35 Impact Factor
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    ABSTRACT: To investigate whether there is an association between risk of congenital anomaly and annual ward level exposure to air pollution in England during the 1990s. A geographical study was conducted across four regions of England using population-based congenital anomaly registers, 1991-1999. Exposure was measured as 1996 annual mean background sulphur dioxide (SO(2)), nitrogen dioxide (NO(2)) and particulate matter (PM(10)) concentrations at census ward level (n=1474). Poisson regression, controlling for maternal age, area socioeconomic deprivation and hospital catchment area, was used to estimate relative risk for an increase in pollution from the 10th to the 90th centile. For non-chromosomal anomalies combined, relative risks were 0.99 (95% CI 0.93 to 1.05) for SO(2), 0.97 (95% CI 0.84 to 1.11) for NO(2) and 0.89 (95% CI 0.75 to 1.07) for PM(10). For chromosomal anomalies, relative risks were 1.06 (95% CI 0.98 to 1.15) for SO(2), 1.11 (95% CI 0.95 to 1.30) for NO(2) and 1.18 (95% CI 0.97 to 1.42) for PM(10). Raised risks were found for tetralogy of Fallot and SO(2) (RR=1.38, 95% CI 1.07 to 1.79), NO(2) (RR=1.44, 95% CI 0.71 to 2.93) and PM(10) (RR=1.48, 95% CI 0.57 to 3.84), which is of interest in light of previously reported associations between this cardiac anomaly and other air pollutants. While air pollution in the 1990s did not lead to sustained geographical differences in the overall congenital anomaly rate in England, further research regarding specific anomalies is indicated.
    Occupational and environmental medicine 10/2009; 67(4):223-7. · 3.64 Impact Factor
  • Patricia A. Boyd, Jean W. Keeling
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    ABSTRACT: Congenital malformations are an important cause of prenatal, perinatal, and infant mortality and morbidity. Three percent of newborns have a single major malformation and 0.7% have multiple major defects. The frequency is much higher prenatally, the majority aborting spontaneously. During the past 50 years, infants with major anomalies have become the focus of increasing and diverse professional expertise and consume a large slice of health budgets in developed countries where their importance as a cause of perinatal mortality has grown as deaths from intrapartum problems have declined and better neonatal care has improved the survival of normally formed low birth weight babies (see Chapter 11). Clinical interest in malformations has been enhanced because sophisticated surgical and anesthetic management makes correction of some major defects possible. This and the recognition of syndromes, their mode of inheritance, and sometimes their etiology requires detailed information from the pathologist in respect to those babies who die, or where termination of pregnancy has been carried out. There has been rapid expansion of both prenatal diagnostic and screening tests, and in the many different types of disorder that can be detected prenatally. This, and increasing interest in the pathology of the spontaneously aborted fetus, means that pathologists need to be acquainted with malformations in the fetus at an earlier stage of development than previously encountered. They must also recognize the following: that the natural history of congenital malformations is not always known; that malformations are now being defi ned earlier in gestation; that documentation of abnormalities at different stages is vital; that some disorders may have distinct, gestation-related manifestations; that a major malformation may have different etiologies and thus different recurrence risks; and that coexisting minor dysmor-phism may indicate a syndrome diagnosis or a specifi c etiology. Recognition of the difference between a collection of associated defects that may constitute a syndrome and a chain of events consequent on a single malformation resulting in a sequence of malformations or progressive deformity is important. Detailed observation of normal embryonic and fetal development and of structural abnormalities in the fetus has increased our awareness of the pathogenesis and natural history of many malformations. Our understanding of their etiology has progressed at a much slower rate.
    07/2009: pages 123-161;
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    ABSTRACT: The diagnosis of duodenal atresia is commonly made prenatally, either as an isolated lesion or due to its association with other chromosomal abnormalities (Robertson et al. in Semin Perinatol 18:182-195, 1994; Hemming and Rankin in J Prenat Diagn 27:1205-1211, 2007). The aim of this study was to describe the prevalence of associated anomalies, prenatal diagnostic accuracy and survival of cases of congenital duodenal atresia in our institution. All cases of duodenal atresia registered with our local congenital anomaly register over a 10-year period, 1995-2004 inclusive, were studied, including those resulting in termination of pregnancies, stillbirths, intrauterine deaths and neonatal deaths. To ensure high-case ascertainment, data were cross checked with prenatal ultrasound, cytogenetic laboratory, pathology department and neonatal surgical data base. Data were analysed for associated anomalies, accuracy of prenatal diagnosis and neonatal outcomes. A total of 65 patients were initially diagnosed as having duodenal atresia, of these 4 were subsequently excluded (1 postnatal normal bowel and 3 high jejunal atresias). In the remaining 61 cases, 35 (57%) had an association with other congenital abnormalities and 26 (43%) were isolated anomalies. Thirty-five were male and 26 female (M:F = 1.4:1). Twenty-one out of 29 (72%) patients prenatally diagnosed, compared with 14 out of 32 (44%) patients diagnosed postnatally had associated anomalies. Duodenal atresia was suspected on routine prenatal ultrasonography at 20-week gestation in 33 cases and confirmed in 29 (48%) cases with 4 false-positive diagnoses (1 normal bowel and 3 high jejunal atresias). No prenatal diagnosis was made in 32 (52%) babies. Of the 61 cases, 53 were live births with 2 early neonatal deaths (1 cardiac and 1 VACTERL), 5 terminations, 2 intrauterine deaths and 1 stillbirth (Fig. 3). Overall neonatal survival was 96% (51 cases). Mortality in the group diagnosed prenatally was 34 % (10 cases). This study shows an overall increased association of duodenal atresia with Down's syndrome. In the group diagnosed prenatally, mortality as well as the association with other congenital anomalies was found to be higher. We have demonstrated a greater prenatal diagnostic accuracy, but confirm postnatal outcomes similar to previous studies.
    Pediatric Surgery International 07/2009; 25(8):727-30. · 1.22 Impact Factor
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    ABSTRACT: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include information about livebirths, fetal deaths with GA > or = 20 weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube defects were not included in the study. Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from a multiple pregnancy. Additional non-cerebral major malformations were diagnosed in 38 cases (44%) and karyotype anomalies in eight cases (9%). Median GA at TOPFA was 21 weeks. Among livebirths 61% were diagnosed prenatally at a median GA of 31 weeks (range 17-40 weeks) and median GA at birth was 37 weeks. Fourteen liveborn infants (34%) died within the first year of life with the majority of deaths during the first week after birth. Congenital hydrocephalus is a severe congenital malformation often associated with other congenital anomalies. CH is often diagnosed prenatally, although sometimes late in pregnancy. A high proportion of affected pregnancies result in termination for severe fetal anomaly and there is a high mortality in livebirths.
    European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 05/2009; 14(2):150-5. · 2.01 Impact Factor
  • BMJ (online) 02/2009; 339:b3428. · 17.22 Impact Factor
  • Epidemiology. 01/2009; 20.
  • W Sherwood, P Boyd, K Lakhoo
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    ABSTRACT: The aim of this study is to establish the postnatal diagnosis and outcome of all abdominal cystic lesions diagnosed antenatally over a 13-year period. All prenatally suspected and postnatally confirmed intra-abdominal cysts seen and delivered between 1991 and 2004 were identified. Antenatal diagnosis, gestational age at delivery, sex and postnatal diagnosis and outcome were recorded. Fifty-five patients were identified with an antenatal diagnosis of abdominal cystic lesion. There were 53 live births and 2 intrauterine deaths. In 13 cases (24%) the cyst had resolved on a postnatal scan. Sixteen (29%) required surgical intervention postnatally. Twenty-six (47%) were given a "non-specific" diagnosis of abdominal cyst antenatally. Three (11%) of these non-specific cysts had resolved on postnatal scan. A "specific" diagnosis of the abdominal cyst was made antenatally in 29 cases (53%) of which 12 (43%) had the diagnosis confirmed postnatally. In ten (35%) of these there was a normal postnatal scan. Antenatal ultrasound scans may not reliably predict the exact pathological diagnosis of abdominal cystic lesions. However this study provides valuable information on the proportion of correctly diagnosed lesions and those that will persist into the postnatal period allowing more informative counselling for prospective parents.
    Pediatric Surgery International 08/2008; 24(7):763-5. · 1.22 Impact Factor

Publication Stats

483 Citations
110.63 Total Impact Points

Institutions

  • 2012
    • Hôpital Saint-Vincent-de-Paul – Hôpitaux universitaires Paris Centre
      Lutetia Parisorum, Île-de-France, France
  • 2005–2012
    • University of Oxford
      • Department of Primary Care Health Sciences
      Oxford, England, United Kingdom
  • 2010
    • Hospital of Lillebaelt
      Kolding, South Denmark, Denmark
  • 2009
    • University of Southern Denmark
      Odense, South Denmark, Denmark
  • 2004–2008
    • Oxford University Hospitals NHS Trust
      • Department of Paediatric Surgery
      Oxford, ENG, United Kingdom
  • 2000
    • The Bracton Centre, Oxleas NHS Trust
      Дартфорде, England, United Kingdom