Urgent global opportunities to prevent birth defects

Kancherla, Vijaya; Oakley, Godfrey P.; Brent, Robert L.

doi:10.1016/j.siny.2013.11.008

Cited by 44 publications

(39 citation statements)

References 83 publications

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“…Congenital infection caused by Toxoplasma gondii and rubella can cause serious damage to the newborn [1, 4] that can be diagnosed in utero or at birth [5–7]. Although these infections are rare in most developed countries, they still represent a major risk for pregnant women in developing regions [8].…”

Section: Discussionmentioning

confidence: 99%

“…Birth defects are an urgent global health priority affecting millions of births worldwide, but the impact remains largely under ascertained in middle-income and low-income settings [1]. Neural tube defects such as anencephaly have been shown to have a multifactorial etiology, such as folic acid deficiency, genetic disorders, socioeconomic status, educational status, and exposure to a variety of environmental toxins [2, 3].…”

Section: Introductionmentioning

confidence: 99%

“…Neural tube defects such as anencephaly have been shown to have a multifactorial etiology, such as folic acid deficiency, genetic disorders, socioeconomic status, educational status, and exposure to a variety of environmental toxins [2, 3]. Congenital infections such as toxoplasmosis and rubella are known to play a non-negligible role in the development of brain malformations [1, 4]. …”

Section: Introductionmentioning

confidence: 99%

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Fetal malformation in maternal toxoplasma and rubella co-infection in Cameroon: a case report

Njoh

Abizou

2016

J Med Case Reports

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BackgroundThere has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition.Case presentationA 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away. She returned to the hospital in labor pains 14 weeks later and, upon examination, she was observed to be at almost full cervical dilatation and had a stillbirth a few minutes later; a baby boy weighing 1600 g with anencephaly.The devastated parents of the baby were counseled and given psychological support. She was discharged from hospital 3 days later and now benefits from continual follow up as out-patient. She was advised to consult a gynecologist-obstetrician before her next pregnancy.ConclusionMuch attention still has to be paid to ameliorate the health care in resource-limited settings where pregnant women generally obtain less than adequate care.Electronic supplementary materialThe online version of this article (doi:10.1186/s13256-016-1133-y) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Fetal malformation in maternal toxoplasma and rubella co-infection in Cameroon: a case report

Njoh

Abizou

2016

J Med Case Reports

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“…There is an urgent need to translate the results of scientific research into policy, in a responsible way. Developed countries are already obtaining successful results; the focus should now be directed towards middle-and low-income countries (Kancherla et al 2014). Political will and commitment of these nations are indispensable for developing plans on a global scale to prevent birth defects and disability.…”

Section: Final Thoughtsmentioning

confidence: 99%

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

et al. 2015

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Uruguay is a middle-income country and the smallest in South America. Its population is under 3.3 million. The demographic and epidemiological characteristics are similar to those of developed countries, with a high burden associated with congenital anomalies. Infant mortality rate (IMR) decreased from 37/1000 live births, in 1980, to 8.8/1000, in 2013. This is largely explained by medical and social policies. IMR related to congenital anomalies, however, remained unchanged for the last 30 years. Therefore, programmes for prevention of congenital disorders were developed, such as the National Newborn Screening Programme. Mandatory, universal, free infant screening was implemented two decades ago. The Ministry of Public Health created the Comprehensive Plan on Birth Defects and Rare Diseases (PIDCER), to develop a strategic public policy tool enabling comprehensive, universal, quality care during their entire lifetime. Recent national legislation created provisions for newborn and infant screening, including for congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, cystic fibrosis and medium-chain acyl-CoA dehydrogenase, via blood spot test, otoacoustic emissions, systematic physical examination and hip ultrasound. We discuss how this programme was implemented, the current situation of rare diseases, the institution managing disability in Uruguay and the development of new laws based on the MPH's PIDCER. It illustrates how Uruguay is developing public policies in the genomic era, based both on science and bioethics.

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“…The transformative intervention—providing women of childbearing age with sufficient folic acid, an inexpensive B vitamin—is remarkably straightforward and effective (Fig. ), and if effectively implemented worldwide could prevent 200,000 cases of NTDs yearly, according to some estimates …”

Section: Introduction: the Case For Surveillancementioning

confidence: 99%

Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention

Botto

Mastroiacovo²

2018

Annals of the New York Academy of Sciences

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Preventing neural tube defects (NTDs) easily qualifies as a high‐value opportunity to improve childhood survival and health: the unmet need is significant (major preventable burden), the intervention is transformative (providing sufficient folic acid), and delivery strategies (e.g., fortification) are effective in low‐resource countries. Yet, NTD prevention is lagging. Can public health surveillance help fix this problem? Critics contend that surveillance is largely unnecessary, that limited resources are best spent on interventions, and that surveillance is unrealistic in developing countries. The counterargument is twofold: (1) in the absence of surveillance, interventions will provide fewer benefits and cost more and (2) effective surveillance is likely possible nearly everywhere, with appropriate strategies. As a base strategy, we propose “triple surveillance:” integrating surveillance of cause (folate insufficiency), of disease occurrence (NTD prevalence), and of health outcomes (morbidity, mortality, and disability). For better sustainability and usefulness, it is crucial to refocus and streamline surveillance activities (no recreational data collection), weave surveillance into clinical care (integrate in clinical workflow), and, later, work on including additional risk factors and pediatric outcomes (increase benefits at low marginal cost). By doing so, surveillance becomes not a roadblock but a preferential path to prevention and better care.

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Urgent global opportunities to prevent birth defects

Cited by 44 publications

References 83 publications

Fetal malformation in maternal toxoplasma and rubella co-infection in Cameroon: a case report

Fetal malformation in maternal toxoplasma and rubella co-infection in Cameroon: a case report

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention

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