High incidence of Down's syndrome in infants of diabetic mothers

Narchi, Hassib; Kulaylat, Naji

doi:10.1136/adc.77.3.242

Cited by 68 publications

(63 citation statements)

References 13 publications

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“…The less common forms of CHD with lower incidence (AVSD, PS, PA) may not have achieved enough power to determine the effect of consanguinity in international studies and may require large population based trials to accurately determine this relationship. The relationship of DM and CHD has been well established in Type 1, Type 2 and gestational DM (El-Hazmi et al, 1995;Narchi andKulaylat, 2000 andSchaefer-Graf et al, 2000). Loffredo found a strong association between maternal diabetes and CHD (OR = 4.7, 95% CI 2.8 to 7.9) with all-cause mortality of children with CHD more than double in diabetic mothers than in non-diabetic (39 and 17%, respectively) (Loffredo et al, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…Narchi and Kulaylat, (2000) estimated that CHD occurs in 5% of infants born to diabetic mothers with the highest relative risk for major defects occurring in mothers with gestational diabetes and developing insulin resistance in the 3rd trimester (Narchi and Kulaylat, 2000). In Saudi Arabia, AbuSulaiman and Subaih (2004) reported incidence of CHD in mothers with insulin dependent DM as 150 per 1,000 live births.…”

Section: Discussionmentioning

confidence: 99%

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The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review

Amirah¹,

Nada²,

Anna³

et al. 2015

J. Public Health Epidemiol.

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Several studies have been conducted on congenital heart disease in different regions of Saudi Arabia. However, no recent systematic review has examined the growing scientific evidence with respect to the epidemiology of CHD in the Kingdom. The aim of this review is to provide a comprehensive summary of CHD incidence, prevalence, burden and impact on the Saudi population. A literature search was conducted through PubMed and Google Scholar using relevant keywords to identify studies performed in Saudi Arabia regarding CHD from 1993 to December 2013. Articles written in English that described or investigated the epidemiology, etiology, distribution, impact and burden of CHD in the Saudi Arabian population were included. Twenty one articles met these criteria. Cross-sectional studies found the prevalence of CHD ranging between 2.1 and 10.7 per 1,000 persons. The most prevalent type of CHD was the ventricular septal defect ranging from 29.5 to 39.5% of all diagnosed CHDs, followed by atrial septal defect (8.9 to 18.1%) and pulmonary stenosis (6 to 12.4%). Overall, the incidence of severe CHD was approximately 5.4 per 1,000 live births per year. Occurrence of CHD in Saudi Arabia was significantly associated with Down's syndrome, consanguinity and maternal diabetes. Studies on the burden of these anomalies on children, families and society are scarce. This systematic review found that prevalence of CHD is comparable to that in other developing countries. Several modifiable risk factors have been identified emphasizing the importance of public health programs that are aimed at tackling such potentially preventable risk determinants.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review

Amirah¹,

Nada²,

Anna³

et al. 2015

J. Public Health Epidemiol.

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“…(29) In addition, mtDNA mutations are known to be associated with AD and diabetes, (24) which are more common in the mothers of DS individuals. (30,31) Furthermore mtDNA is almost entirely of maternal origin, as is the extra chromosome 21 in the vast majority of DS cases, and examination of pedigrees from families with aneuploidy recurrence indicates cytoplasmic inheritance of a risk factor. (27) Mutations in mtDNA may bring about an increase in the generation of free-radicals and reduce ATP levels.…”

Section: Sod-1 and Abpp-gene Dosage Effects Or Protective Response?mentioning

confidence: 98%

Mitochondrial dysfunction and Down's syndrome

Arbuzova¹,

Hutchin

Cuckle

2002

BioEssays

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Neither the pathogenesis nor the aetiology of Down's syndrome (DS) are clearly understood. Numerous studies have examined whether clinical features of DS are a consequence of specific chromosome 21 segments being triplicated. There is no evidence, however, that individual loci are responsible, or that the oxidative damage in DS could be solely explained by a gene dosage effect. Using astrocytes and neuronal cultures from DS fetuses, a recent paper shows that altered metabolism of the amyloid precursor protein and oxidative stress result from mitochondrial dysfunction.1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology.

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“…[6][7][8] Most symptomatic infants require only supportive care with supplemental oxygen, but β-adrenergic blockers such as propranolol may be necessary to improve ventricular output. 9 Fetal hyperinsulinaemia in response to maternal hyperglycaemia has been implicated as the cause of HCM in infants of the diabetic mothers. 2 Similar to infants of mothers with diabetes, infants with congenital hyperinsulinism have excessive insulin secretion in utero, are often large for gestational age (GA) and have hypoglycaemia within the first days of life.…”

Section: Introductionmentioning

confidence: 99%

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism

Huang

Kelly

Becker

et al. 2013

Arch Dis Child Fetal Neonatal Ed

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Introduction Hypertrophic cardiomyopathy (HCM) is a well-recognised complication in infants of diabetic mothers and is attributed to a compensatory increase in fetal insulin secretion. Infants with congenital hyperinsulinism have excessive prenatal and postnatal insulin secretion due to defects in pathways of insulin secretion (most commonly the KATP channel). HCM has been reported in a few neonates with hyperinsulinism, but its extent and risk factors for its development have not been evaluated. Methods Retrospective chart review of infants, age <3 months, with congenital hyperinsulinism managed by Children’s Hospital of Philadelphia over a 3.5-year period. Data Gestational age, birth weight, hyperinsulinism form and treatments, echocardiogram results, cardiac/ respiratory complications. Results 68 infants were included, 58 requiring pancreatectomy for diffuse (n=28) or focal (n=30) disease, 10 were diazoxide-sensitive. Twenty-five had echocardiograms performed. Ten had HCM, all of whom required pancreatectomy and eight of whom had confirmed ATP-sensitive potassium-hyperinsulinism. Subjects with HCM had younger gestational age 36(32, 38) than their surgical counterparts without HCM 38 (31.6, 43), p=0.02. Discussion HCM appears common in infants with severe hyperinsulinism. Routine echocardiogram and EKG of at-risk newborns should be considered. Fetal hyperinsulinism is the likely mediating factor for HCM in HI infants.

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High incidence of Down's syndrome in infants of diabetic mothers

Cited by 68 publications

References 13 publications

The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review

The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review

Mitochondrial dysfunction and Down's syndrome

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism

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