PA Boyd

University of Oxford, Oxford, England, United Kingdom

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Publications (51)558.1 Total impact

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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.
    No preview · Article · Sep 2012 · Archives of Disease in Childhood - Fetal and Neonatal Edition
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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.
    Full-text · Article · Jul 2012 · The Journal of pediatrics
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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.
    Full-text · Article · Jun 2012 · BJOG An International Journal of Obstetrics & Gynaecology
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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.
    Preview · Article · Feb 2012 · Archives of Disease in Childhood - Fetal and Neonatal Edition

  • No preview · Article · Nov 2009 · Epidemiology
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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.
    Full-text · Article · Oct 2009 · Occupational and environmental medicine
  • M S Choudhry · N Rahman · P Boyd · K Lakhoo
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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.
    No preview · Article · Jul 2009 · Pediatric Surgery International

  • No preview · Article · Feb 2009 · BMJ (online)
  • 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.
    No preview · Article · Aug 2008 · Pediatric Surgery International
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    PA Boyd · C Devigan · B Khoshnood · M Loane · E Garne · H Dolk
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    ABSTRACT: To 'map' the current (2004) state of prenatal screening in Europe. (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. Europe. Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database. Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0-95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25-94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD.
    Preview · Article · Jun 2008 · BJOG An International Journal of Obstetrics & Gynaecology
  • M Choudhry · P A Boyd · P F Chamberlain · K Lakhoo
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    ABSTRACT: To assess the accuracy of the prenatal ultrasound finding of subjectively small/absent stomach bubble in the prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia (TOF/OA). A retrospective study of prenatal ultrasound scans showing small/absent stomach bubble was carried out between 1st January 1994 and 31st December 2003. There were 62 cases with prenatally suspected (n = 40) and/or post-natally diagnosed (n = 22) TOF/OA. Among the 40 cases of prenatally suspected TOF/OA 15 were thought to be isolated and 25 non-isolated. Of the 15 suspected isolated cases, 7 were normal and 8 had TOF/OA (5 isolated + 3 TOF/OA with another anomaly) at delivery. Among the 25 cases of prenatally suspected non-isolated TOF/OA, there was confirmation in only two cases, in the remaining 23 cases other anomalies were confirmed but TOF/OA was not present.Twenty-two babies with TOF/OA were identified in whom there had been no prenatal ultrasound suspicion on ultrasound scanning. Six had isolated TOF/OA and 16 had non-isolated TOF/OA. Of the 32 cases of confirmed TOF/OA,10 (31%) were suspected prenatally. If the TOF/OA was an isolated anomaly (11 cases), the prenatal detection rate was 45%. Interpretation of ultrasound findings suspicious of TOF/OA requires caution, particularly, when there are associated multiple anomalies on scan.
    No preview · Article · Jul 2007 · Prenatal Diagnosis
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    M Zaki · P A Boyd · L Impey · A Roberts · P Chamberlain
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    ABSTRACT: The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1). A retrospective chart review of all patients with a diagnosis of DM1 and pregnancy presenting to the Oxford Radcliffe Hospital between 1990 and 2004 was undertaken. Obstetric case notes were reviewed and details of all pregnancies obtained. This included data on prenatal diagnostic tests and obstetric ultrasound scans performed as well as pregnancy complications and pregnancy outcome. Maternal and fetal CTG expansion size was also recorded where available. Maternal genetic case notes were reviewed for details of maternal grip myotonia. Sixty pregnancies among 26 couples in which one of the parents was a carrier of DM1 were identified during the study period. These resulted in 36 (60%) pregnancies affected by congenital DM1 and 19 (31.7%) unaffected pregnancies. There were four miscarriages and one termination of pregnancy for non-medical reasons. Nineteen of the 36 affected pregnancies ended in termination following the antenatal diagnosis of congenital DM1 by either chorionic villus sampling (CVS) or amniocentesis. In the remaining 17 affected pregnancies (16 singleton and one twin) there was one miscarriage of an affected fetus with co-existing Down syndrome and eight perinatal deaths. The principal cause of perinatal death was respiratory failure in the early neonatal period. Antenatally noted clinical/sonographic abnormalities in these pregnancies included polyhydramnios (100%), talipes (26.6%) and borderline ventriculomegaly (13.3%). Uni- or bilateral talipes was noted at delivery in 10 of 16 (62.5%) neonates. Maternal grip myotonia was present in all but one of these cases. The antenatal findings of polyhydramnios and talipes should prompt a search for maternal grip myotonia. If present, definitive testing for congenital DM1 should be considered.
    Full-text · Article · Mar 2007 · Ultrasound in Obstetrics and Gynecology

  • No preview · Conference Paper · Aug 2006
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    ABSTRACT: To determine the outcome of antenatally suspected congenital cystic adenomatoid malformation of the lung (CCAM) over a 10 year period. This is a retrospective study of all babies diagnosed antenatally in the Prenatal Diagnosis Unit and delivered in Oxford between 1991 and 2001. Data were obtained from the Oxford Congenital Anomaly Register, theatre records, and histopathology reports. Twenty eight cases of CCAM were diagnosed antenatally. Five pregnancies were terminated. Data are available on all 23 of the pregnancies that continued and resulted in two neonatal deaths and 21 surviving babies. Eleven of the 23 cases (48%) showed some regression of the lesion antenatally, and four of these cases appeared to resolve completely on prenatal ultrasound. Three of the 23 babies (13%) were symptomatic in the early neonatal period, and three developed symptoms shortly afterwards. Seventeen of the 23 babies (74%) were asymptomatic, of whom 12 had abnormalities on chest radiograph or computed tomography scan and had elective surgery. Two babies (8%) had completely normal postnatal imaging, and three had abnormalities which resolved in the first year of life. Seventeen of the 23 babies (74%) had surgery. Histology at surgery was heterogeneous. Of the 23 live births, all 21 survivors (91%) are well at follow up or have been discharged. All babies diagnosed antenatally with CCAM require postnatal imaging with computed tomography irrespective of signs of antenatal resolution. In asymptomatic infants, the recommendations are close follow up and elective surgery for persistent lesions within the first year of life. Histology at surgery was heterogeneous, and this should be considered when counselling parents.
    Preview · Article · Feb 2006 · Archives of Disease in Childhood - Fetal and Neonatal Edition
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    ABSTRACT: To describe trends in total and live birth prevalence, regional differences in prevalence, and outcome of pregnancy of selected congenital anomalies. Population based registry study of 839,521 births to mothers resident in five geographical areas of Britain during 1991-99. Main outcome measures were: total and live birth prevalence; pregnancy outcome; proportion of stillbirths due to congenital anomalies; and secular trends. The sample consisted of 10,844 congenital anomalies, giving a total prevalence of 129 per 10,000 registered births (95% CI 127 to 132). Live birth prevalence was 82.2 per 10,000 births (95% CI 80.3 to 84.2) and declined significantly with time. The proportion of all stillbirths with a congenital anomaly was 10.5% (453 stillbirths). The proportion of pregnancies resulting in a termination increased from 27% (289 cases) in 1991 to 34.7% (384 cases) in 1999, whereas the proportion of live births declined from 68.2% (730 cases) to 58.5% (648 cases). Although similar rates of congenital anomaly groups were notified to the registers, variation in rates by register was present. There was a secular decline in the total prevalence of non-chromosomal and an increase in chromosomal anomalies. Regional variation exists in the prevalence of specific congenital anomalies. For some anomalies this can be partially explained by ascertainment variation. For others (neural tube defects, diaphragmatic hernia, gastroschisis), higher prevalence rates in the northern regions (Glasgow and Northern) were true differences. Live birth prevalence declined over the study due to an increase in terminations of pregnancy.
    Preview · Article · Oct 2005 · Archives of Disease in Childhood - Fetal and Neonatal Edition
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    D Wellesley · Boyd PA · H Dolk · S Pattenden
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    ABSTRACT: Congenital anomaly registers collect data on antenatally and postnatally detected anomalies for surveillance, research, and public health purposes. Each anomaly is coded using the International Statistical Classification of Diseases and Related Health Problems (ICD-9/ICD-10) based on body systems, allowing accurate comparisons between registers for individual anomalies. When commencing an environmental, epidemiological study, it became clear to us that there is no standard classification that takes aetiology into account. This paper describes a new classification for use in studies addressing aetiology. A classification system was evolved and piloted using cases in a study of geographical variation in congenital anomaly prevalence.1 Cases that were difficult to categorise were noted, and after discussion with a team of experts, the classification was adjusted accordingly. Results and A robust, hierarchical method of classifying birth defects into eight categories has been produced, for use at source of data registration in conjunction with, but independent of, ICD coding.
    Preview · Article · Feb 2005 · Journal of Medical Genetics
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    ABSTRACT: Firstly, to assess the completeness of ascertainment in the National Congenital Anomaly System (NCAS), the basis for congenital anomaly surveillance in England and Wales, and its variation by defect, geographical area, and socioeconomic deprivation. Secondly, to assess the impact of the lack of data on pregnancies terminated because of fetal anomaly. Comparison of the NCAS with four local congenital anomaly registers in England. Four regions in England covering some 109,000 annual births. Cases of congenital anomalies registered in the NCAS (live births and stillbirths) and independently registered in the four local registers (live births, stillbirths, fetal losses from 20 weeks' gestation, and pregnancies terminated after prenatal diagnosis of fetal anomaly). The ratio of cases identified by the national register to those in local registry files, calculated for different specified anomalies, for whole registry areas, and for hospital catchment areas within registry boundaries. Ascertainment by the NCAS (compared with data from local registers, from which terminations of pregnancy were removed) was 40% (34% for chromosomal anomalies and 42% for non-chromosomal anomalies) and varied markedly by defect, by local register, and by hospital catchment area, but not by area deprivation. When terminations of pregnancy were included in the register data, ascertainment by NCAS was 27% (19% for chromosomal anomalies and 31% for non-chromosomal anomalies), and the geographical variation was of a similar magnitude. The surveillance of congenital anomalies in England is currently inadequate because ascertainment to the national register is low and non-uniform and because no data exist on termination of pregnancy resulting from prenatal diagnosis of fetal anomaly.
    Full-text · Article · Feb 2005 · BMJ (online)
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    ABSTRACT: The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women >or=35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.
    No preview · Article · Oct 2004 · Annales de Génétique
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    PA Boyd · F Tondi · N R Hicks · P F Chamberlain
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    ABSTRACT: To study trends in termination of pregnancy for fetal anomaly over 10 years and to assess the contribution of autopsy to the final diagnosis and counselling after termination. Retrospective study with cases from a congenital anomaly register and a defined unselected population. Pregnancies resulting in termination for fetal anomaly identified from the Oxford congenital anomaly register. Details about the prenatal diagnosis and autopsy findings were retrieved from case notes. Of the 57 258 deliveries, 309 (0.5%) were terminated because of prenatally diagnosed abnormality. There were 129/29 086 (0.4%) terminations for fetal anomaly carried out in 1991-5 and 180/28 172 (0.6%) in 1996-2000. The percentage of fetuses that underwent autopsy fell from 84% to 67%. Autopsy was performed in 132 cases identified by ultrasound scan, with no evidence for abnormal karyotype. In 95 (72%) the autopsy confirmed the suspected diagnosis and did not add important further information, two cases were not classified, and in 35 (27%) the autopsy added information that led to a refinement of the risk of recurrence (reduced in 17, increased in 18); in 11 of these 18 cases it was increased to a one in four risk. Though there has been an increase in the rate of terminations of pregnancy for fetal anomaly, there has been a decline in the autopsy rate. When a prenatal diagnosis was based on the results of a scan only, the addition of information from an autopsy by a specialist paediatric pathologist provided important information that changed the estimated risk of recurrence in 27% of cases and in 8% this was to a higher (one in four) risk.
    Preview · Article · Feb 2004 · BMJ (online)
  • Y Patel · PA Boyd · P Chamberlain · K Lakhoo
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    ABSTRACT: To determine whether there was any evidence of long-term bowel pathology in children, apparently healthy at birth, who had a prenatal second-trimester diagnosis of isolated grade 2 fetal echogenic bowel. This was a retrospective study using data from the Oxford Congenital Anomaly Register. Fetuses with isolated grade 2 fetal echogenic bowel and date of delivery from 1994 to 2000 inclusive were identified. Information about the health of the children, particularly relating to bowel symptoms, was obtained from hospital records and from a questionnaire sent to the general practitioner. A total of 109 cases were identified, with delivery details available for 108. There was one unexplained intrauterine death, and additional problems were subsequently diagnosed in four cases (cystic fibrosis (2), Down syndrome (1), and VACTERL (1)). Questionnaires were sent to the GPs of the 103 who had no problems identified at the time of discharge from the maternity hospital. Age at follow-up ranged from one to four years. Responses to the questionnaires were received from 83 (81%). Of these, 74 (89%) had not reported bowel symptoms to the GP, 9 (11%) reported symptoms relating to constipation (6), chronic abdominal pain (1), infantile colic with milk intolerance (1) and gastro-oesophageal reflux (1). This small study provides some reassurance that there was no evidence of any serious long-term bowel pathology associated with isolated fetal echogenic bowel.
    No preview · Article · Jan 2004 · Prenatal Diagnosis