Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register

Objectives— To evaluate the completeness of notifications of Down's syndrome live births and terminations to the Office for National Statistics (ONS) using data from the National Down Syndrome Cytogenetic Register (NDSCR). To examine the agreement of observed birth prevalence of Down's syndrome with the expected birth prevalence derived from published maternal age specific rates. Methods— The number of live births (adjusted to allow for the estimated under-ascertainment) and the number of terminations due to fetal Down's syndrome from NDSCR were compared with those figures reported to the ONS. Subsequently, using the NDSCR figures, the live birth prevalence of Down's syndrome that would have occurred in the absence of antenatal diagnosis and selective termination was calculated in England and Wales in the years 1990–1993. These figures were compared with those derived by applying published age specific prevalences to the maternal age distribution in England and Wales. Results— It is estimated that only 48% and 46% respectively of Down's syndrome live births and terminations of pregnancy were notified to ONS between 1990 and 1993. The annual expected birth prevalences of Down's syndrome obtained by applying maternal age specific prevalences to the maternal age distribution were in close agreement with observed rates from NDSCR. Conclusions— There is considerable underreporting of Down's syndrome births and terminations to ONS. The NDSCR data are more complete and therefore the effects of screening should be monitored using data from this source, or using estimates derived from the age specific rates of Down's syndrome.

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Monitoring Trends in Prenatal Diagnosis of Down's Syndrome in England and Wales, 1989–92

Journal of Medical Screening ◽

10.1177/096914139400100410 ◽

1994 ◽

Vol 1 (4) ◽

pp. 233-237 ◽

Cited By ~ 6

Author(s):

Joan K Morris ◽

David E Mutton ◽

Roy Ide ◽

Eva Alberman ◽

Martin Bobrow

Keyword(s):

Prenatal Diagnosis ◽

Confidence Interval ◽

Regional Differences ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Fold Increase ◽

Maternal Serum ◽

Serum Analysis ◽

Chromosomal Anomalies ◽

England And Wales

The national register of chromosomal anomalies that lead to Down's syndrome has enabled the monitoring of change in prenatal diagnosis for this condition, and the factors which affect the change. The proportion of cases of cytogenetically diagnosed Down's syndrome in England and Wales detected prenatally rose to 46% in 1991–2 from 31% in 1988–9, a 1·5-fold increase (95% confidence interval 1·3 to 1·7). The increase was confined to mothers under 40 years and was due to the introduction of screening by maternal serum analysis and ultrasound. Over a quarter of affected pregnancies in women aged 25–29 were detected prenatally in 1991–2 compared with less than 10% in 1988–9. Analysis of the data showed regional differences in prenatal diagnosis rates, and in the length of time elapsing between the diagnostic test and termination of an affected pregnancy. An inexplicable finding was that this period varied with the sex of the fetus, being on average a day longer for females than for males.

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Prevalence three ways: Comparison of linked data from a patient register and electronic health records with allowance for linkage error

International Journal for Population Data Science ◽

10.23889/ijpds.v4i3.1273 ◽

2019 ◽

Vol 4 (3) ◽

Author(s):

James Doidge ◽

Joan Morris ◽

Katie Harron ◽

Sarah Stevens ◽

Ruth Gilbert

Keyword(s):

Linked Data ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Bias Analysis ◽

Health Records ◽

Live Births ◽

Linkage Error ◽

Quantitative Bias Analysis ◽

Over Time

Background with rationalePatient registers and electronic health records are both valuable resources for disease surveillance but can be limited by variation in data quality over time. Variation may stem from changes in data collection methods, in the accuracy or completeness of clinical information, or in the quality of patient identifiers and the linkage that relies on these. Main AimBy linking the National Down Syndrome Cytogenetic Register (NDSCR) to Hospital Episode Statistics for England (HES), we aimed to assess the quality of each and establish a consistent approach for analysis of trends in prevalence of Down’s syndrome among live births in England. Methods/ApproachProbabilistic record linkage of NDSCR to HES for the period 1998–2013, supported by linkage of babies to mothers within HES. Comparison of prevalence estimates in England using NDSCR only, HES data only, and linked data. Capture-recapture analysis and quantitative bias analysis were used to account for potential errors, including false positive diagnostic codes, unrecorded diagnoses, and linkage error. ResultsAnalyses of single-source data indicated increasing live birth prevalence of Down’s syndrome, particularly steep in analysis of HES. Linked data indicated a contrastingly stable prevalence of 12.3 cases per 10,000 live births, with a plausible range of 11.6–12.7 cases per 10,000 live births allowing for potential errors. Conclusion Case ascertainment in NDSCR improved slightly over time, creating a picture of slowly increasing prevalence. The emerging epidemic suggested by HES primarily reflects improving linkage within HES (assignment of unique patient identifiers to hospital episodes). Administrative data are valuable but trends should be interpreted with caution, and with assessment of data quality over time. Linked data with quantitative bias analysis can provide more robust estimation and, in this case, reassurance that prevalence of Down’s syndrome is not increasing. Routine linkage of administrative and register data can enhance the value of each.

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Graves Disease And Down Sindrome : Clinical Case

ARS Medica Tomitana ◽

10.1515/arsm-2015-0040 ◽

2015 ◽

Vol 21 (3) ◽

pp. 163-168 ◽

Cited By ~ 1

Author(s):

Olesea Scrinic ◽

Seila Ibadula ◽

E. Circo

Keyword(s):

Down Syndrome ◽

Side Effects ◽

Clinical Case ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Graves Disease ◽

Ocular Involvement ◽

Endocrine Disorders ◽

Clinical Evolution ◽

Antithyroid Therapy

ABSTRACT Introduction: Pacients with Down’s syndrome present an increase revalence of autoimune endocrine disorders. We communicate the case of 14 years and 6 months old pacient known with Down syndrome admitted in Endocrinology department with suspicion of hyperthyroidism, the diagnosis being confirmed by hormonal dosage. The particularity of the case consists in: symptomatology onset during puberty, clinical evolution with mild symptoms, without ocular involvement, morphological and functional remission obtained relatively soon after the initiation of antithyroid therapy, lack of posttherapy side effects, favorabile evolution under the “block and replace” therapy

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Multiple subpleural cysts in the lungs in a child with Down’s syndrome

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) ◽

10.21508/1027-4065-2021-66-4-95-100 ◽

2021 ◽

Vol 66 (4) ◽

pp. 95-100

Author(s):

N. S. Lev ◽

M. V. Kostyuchenko ◽

I. E. Zorina ◽

L. V. Sokolova ◽

Yu. L. Mizernitsky

Keyword(s):

Cognitive Impairment ◽

Pulmonary Disease ◽

Chromosomal Abnormality ◽

Clinical Case ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Common Cause ◽

Live Births ◽

Dysmorphic Features ◽

Pulmonary Pathology

Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

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Incidence of Celiac Disease in Children with Down’s Syndrome

10.53350/pjmhs2115102582 ◽

2021 ◽

Vol 15 (10) ◽

pp. 2582-2583

Author(s):

Sana Pervez ◽

Syed Sajid Munir ◽

Maimoona Saeed

Keyword(s):

Down Syndrome ◽

Celiac Disease ◽

Biopsy Specimen ◽

Venous Blood ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Cross Sectional Study ◽

Sectional Study ◽

Cross Sectional ◽

Keywords Celiac Disease

Aim: Incidence of celiac disease among children with down’s syndrome Setting: Pediatrics department, Khyber Teaching Hospital, Peshawar Study design: Cross sectional study Study duration: 20/7/2019 to 20/1/2020 Methodology: A total of 241 subjects were selected. Five ml of venous blood was obtained from all patients to detect the Anti-tTG Ab. Among those patients who are positive for the antibody, endoscopy and biopsy specimen from duodenum were sent to hospital laboratory to confirm the presence of villus atrophy. Results: Mean age was 8 ± 4.57. 44% children were male and 56% children were female. More over 4% children had celiac disease and 96% children didn’t have celiac disease. Conclusion: The frequency of celiac disease was 4% among children presenting with Down syndrome. Keywords: Celiac disease, Down’s syndrome.

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WHOSE CHROMOSOMES TO COUNT IN MONGOLISM?

PEDIATRICS ◽

10.1542/peds.36.4.620 ◽

1965 ◽

Vol 36 (4) ◽

pp. 620-623

Author(s):

R. James McKay

Keyword(s):

Chromosomal Abnormality ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Laboratory Method ◽

Practical Approach ◽

Live Births ◽

Normal Phenotype ◽

Theoretical Ratio ◽

The Family ◽

Phenotype Characteristic

Every physician who must make decisions in the management of a child with Down's syndrome faces the problem of whether or not chromosomal analyses should be done and, if so, upon which members of the family. The purpose of such analyses is the identification of those individuals who may be expected to have an increased incidence of mongolism among their offspring as a result of a translocation of a 21 chromosome, a 21 isochromosome, mosaicism for 21-trisomy, or 21-trisomy itself. However, the high cost and difficulty of obtaining chromosomal analyses require that their number be kept to the minimum necessary, and that appropriate short cuts in the laboratory method also be applied whenever possible. The following paragraphs will attempt to lay a base for, and to outline, a logical and practical approach to the chromosomal screening of relatives of patients with Down's syndrome. Table I lists various parental abnormalities involving the 21 chromosome, together with the theoretical proportion of cases of mongolism to total live births for each. In considering this table, the reader should keep in mind that it refers to an estimated 1 or 2% only of parents of patients with Down's syndrome. In an estimated 98-99% of instances, both parents are chromosomaliy normal. Although the observed proportion of cases of mongolism to total live births approximates the theoretical ratio among the infants of mothers with the phenotype characteristic of Down's syndrome, the observed proportion is lower than the theoretical ratio among the children of parents with a normal phenotype and a chromosomal abnormality predisposing to mongoloid offspring.

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