Preconception Healthcare and Congenital Disorders: Systematic Review of the Effectiveness of Preconception Care Programs in the Prevention of Congenital Disorders

Abstract

Congenital disorders are a leading cause of global burden of disease; the birth prevalence remains constant at 6%. Initiating preconception care before pregnancy may be an effective strategy to reduce congenital disorders and improve the health of reproductive-age women. Our objectives are: (1) To identify components of preconception interventions, (2) to assess the effectiveness of preconception interventions in reducing the burden of congenital disorders, and (3) to prioritize these interventions. Medline and Science Direct search terms included: preconception, pre-pregnancy, childbearing, reproduction, care, intervention, primary care, healthcare, model, program, prevention, trial, efficacy, effectiveness, congenital disorders OR abnormalities. Inclusion criteria were: (1) English, (2) human subjects, (3) women of childbearing age, (4) 1980-current data, (5) all countries, (6) experimental studies, (7) systematic reviews or meta-analysis, (8) program reports/evaluations. Data was collected and abstracted by two independent reviewers. To prioritize preconception interventions likely to have the largest impact at a population level, a ranked scoring system was created incorporating the following: (1) quality of evidence supporting the intervention, (2) effect size of the intervention, and (3) global burden of the specific congenital disease. Preconception interventions include risk screening, education, motivational counseling, disease optimization and specialist referral. The most effective interventions, based on the strength of evidence, size of impact of intervention, and disease burden are: folic acid fortification/supplementation, diabetic control, smoking and alcohol interventions, HIV management, thrombophillia screening, obesity prevention and epilepsy management. Although multiple conditions require preconception attention, only nine interventions have evidence to support their effect on congenital disorders through a randomised control trial, systematic review or meta-analysis. There is a need for more high-level research in evaluating certain preconception interventions. These findings have significant implications on planning and implementation of preconception care.

Women with epilepsy: clinically relevant issues

“…Further recommendations include pre-conception folic acid supplementation in order to prevent congenital malformations in newborns and possibly improve neurodevelopmental outcomes (Harden et al, 2009b;Shannon et al, 2014). Safety data on the newer AEDs are quite sparse.…”

High dose folic acid supplementation in women with epilepsy: Are we sure it is safe?

“…They concluded that the risk of major congenital malformations in the offspring of women with epilepsy is possibly decreased by folic acid supplementation (two adequately sensitive Class III studies) and they recommended that preconceptional folic acid supplementation in women with epilepsy may be considered to reduce the risk of major congenital malformations (Level C) [3]. They also stated that ''there was insufficient published information to address the dosing of folic acid and whether higher doses offer greater protective benefit to women with epilepsy taking AEDs'' [3]. However, women with epilepsy are often recognized as a high risk group and guidelines consistently recommend prescription of high doses (up to 5 mg/-day) of folic acid supplementation in this population [4,5].…”

“…The current folic acid supplementation recommendation is that all women of childbearing potential be supplemented with at least 0.4 mg of folic acid daily prior to conception and during pregnancy [2]. Most experts agree that folic acid supplementation is a key preconception intervention, particularly in women with epilepsy who take antiepileptic drugs (AEDs) [3]. In this review, I will try to emphasize that there is insufficient information to address the optimal dosing of folic acid supplementation in women with epilepsy, who take AEDs.…”

Case Report Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

“…BDs are an important public health problem due to their overall incidence, with major congenital anomalies occurring in approximately 2-3% of live births in the European Union (EU) (Taruscio et al, 2011). The 2006 March of Dimes report estimated that, on average, 7.9 million children (approximately 6% of total births worldwide) are born with BDs (Shannon et al, 2014). However, the incidence is 5.6% in China, and there are 0.9 million new cases every year according to The Prevention Report of China's Birth Defects (2012), which was published by China's Ministry of Health.…”