Major congenital anomalies in babies born with Down syndrome: A EUROCAT population‐based registry study

Morris, Joan K.; Garne, Ester; Wellesley, Diana; Addor, Marie‐Claude; Arriola, Larraitz; Barišić, Ingeborg; Béres, Judit; Bianchi, Fabrizio; Budd, Jls; Dias, Carlos Matias; Gatt, Miriam; Klungsøyr, Kari; Khoshnood, Babak; Latos‐Bieleńska, Anna; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O’Mahony, Mary; Queißer‐Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rißmann, Anke; Rounding, Cath; Šípek, A; Stoianova, Sylvia; Tucker, David; Walle, Hermien de; Yevtushok, Lyubov; Loane, Maria; Dolk, Helen

doi:10.1002/ajmg.a.36780

Cited by 68 publications

(84 citation statements)

References 23 publications

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“…As previously reported, we found that infant girls were more commonly affected than infant boys. 27,28 Similar to findings in the general population, maternal obesity and maternal smoking were associated with increased risk of congenital heart defects within our cohort of infants with Down syndrome. 36,37 Our findings are strengthened by the population-based cohort study design and the use of prospectively recorded data from nationwide health care registers.…”

supporting

confidence: 85%

“…27 However, the European Surveillance of Congenital Anomalies Central Register, including populationbased data from European countries including Sweden, recently reported an AVSD rate of 32%. 28 We can only speculate about underlying mechanisms for the shift in cardiovascular phenotype observed in Sweden, as we had no information on fetuses from terminated pregnancies. 29 In recent years, congenital heart defects are reportedly less common in the general population, but the magnitude of changes observed among Swedish infants with Down syndrome is unlikely to be explained by factors related to such small general trends.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Trends in Congenital Heart Defects in Infants With Down Syndrome

Bergström¹,

Carr²,

Petersson³

et al. 2016

Pediatrics

124

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supporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Trends in Congenital Heart Defects in Infants With Down Syndrome

Bergström¹,

Carr²,

Petersson³

et al. 2016

Pediatrics

124

View full text Add to dashboard Cite

show abstract

“…From this latter group, only four fulfilled the eligibility criteria and were included in the meta-analysis [22][23][24][25]. Direct contact with the authors of the remaining 31 articles made it possible to include another eight studies [12,13,20,[26][27][28][29][30], totalizing 12 articles for analysis.…”

Section: Resultsmentioning

confidence: 99%

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

et al. 2017

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Background: Down's syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40-60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gender could be one of them. Methods: We performed a meta-analysis of CHD prevalence in DS, separated by gender. Three search engines were used and 578 articles were reviewed. Twelve articles were included. Results: Quantitative analysis showed a higher prevalence of CHD, particularly atrioventricular septal defects (AVSD), in female patients. No differences were found in others forms of CHD. Conclusion: CHD, particularly AVSD, are more common in the female gender of Down's syndrome patients.

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“…One exception to the literature, AV canal (13.9%), is lower in our population than the previously identified 25-37%. Thirty-one percent of our population required surgical intervention for cardiac abnormalities, which is one of the few accounts reported in the literature but often a frequent question from parents [12][13][14]23].…”

Section: Comorbiditiesmentioning

confidence: 99%

“…These investigations are significant in establishing a baseline to better understand this population. However, there are some limitations that include small participant numbers, data collection spanning many years, disparities in subject age range, lack of ethnic or race information and limited reliability of data systems for clinical information [7][8][9][10][11][12][13][14][15]. These challenges in the literature impact the reported frequency of comorbidities and limit our understanding of screening and identification of medical conditions for children with DS.…”

Section: Introductionmentioning

confidence: 99%

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

Hickey¹,

Wolter‐Warmerdam²,

Hickey³

et al. 2017

J Down Syndr Chr Abnorm

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Objective: Children with Down syndrome (DS) have an increased risk of neonatal complications and comorbidities compared to the general population; however, the incidence, optimal screening intervals and outcomes in this population are uncertain. The purpose of this study is to phenotypically define this population of children with DS using a large multi-age and ethnic sample and current American Academy of Pediatrics (AAP) Guidelines testing practices.Method: This is a retrospective review of a large cohort of 1,108 children with DS (male=602; mean age at initial contact: 5.72 years, SD ± 5.51) who received care at the Sie Center for Down Syndrome (SCDS) at The Children's Hospital Colorado from 2011 and 2016. Clinical data were collected from a prospective patient clinic database. Clinical details were collected, which included demographics, prenatal and birth history and complications, comorbidities, procedures, treatment plans and outcomes.Results: Medical complications requiring admission to the neonatal intensive care unit were identified in 70.6% of children with DS. Frequent causes for these neonatal admissions included: Required oxygen (60.7%), feeding problem (48.2%), Respiratory Distress Syndrome (21.4%) and pulmonary hypertension (14.7%). Incidence of medical comorbidities in our population with DS included cardiac defects (64.3%), abnormal sleep study (71.1%), abnormal thyroid study (29.1%), pulmonary aspiration (12.2%), celiac disease (5.0%) and pulmonary arterial hypertension (28.3%). Conclusion:Clinical data provides results from one of the largest investigations at a single pediatric hospital for children and young adults with DS in the US. This study describes the comorbidities affecting individuals with DS more accurately by applying AAP guidelines in studying a larger population than previously defined. This result improves our understanding of the incidence and identification of medical conditions in children with DS and reinforces recommendations on medical care screening for individuals with DS.

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Major congenital anomalies in babies born with Down syndrome: A EUROCAT population‐based registry study

Cited by 68 publications

References 23 publications

Trends in Congenital Heart Defects in Infants With Down Syndrome

Trends in Congenital Heart Defects in Infants With Down Syndrome

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

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