Risk Of Neural Tube Defects Research Articles

A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population.

Transcription factor AP-2 alpha (TFAP2A) is an important transcriptional factor involved in various aspects of embryo development including neural tube closure. Tfap2a deficiency led to the failure of cranial neural-tube closure in mice and other model organisms. However, it remains largely unknown about the relationship between TFAP2A variants and human cranial neural tube defects (NTDs). The aim of this study was to find the association between TFAP2A intronic SNP rs3439413 and NTDs and to explore its function. We found an indel polymorphism rs3439413 in TFAP2A intron-5 from our previous target sequencing project. In this study, we validate its association with human NTDs in Shanxi group containing 266 NTD cases and 295 matched controls. Then, we investigated its function on transcriptional activity by dual-luciferase assays and EMSA. The minor allele of rs34396413 significantly increased the risk of NTD in a Han Chinese population of Shanxi Province (P = 0.0082, OR = 1.45, 95%CI = 1.10-1.90), especially the risk of encephalocele for female (P = 0.0064, OR = 2.46, 95%CI = 1.22-4.94). Functional analysis revealed the minor allele of rs34396413 decreases transcriptional activity and attenuates transcription factor binding affinity. We have demonstrated that the minor allele of rs34396413 was a risk factor of NTD in the Shanxi group, providing new insight into the study of NTD etiology.

Maternal periconceptional body mass index and risk for neural tube defects: results from a large cohort study in China

Background: Case-control studies have consistently suggested an association between pre- or periconceptional maternal obesity and an increased risk for neural tube defects (NTDs). Few studies have examined the association between body mass index (BMI) and NTDs using measured weight and height. We examined this association in a large cohort study in China.Methods: We used data from a large population-based cohort study established to evaluate the effectiveness of folic acid supplementation to prevent NTDs in China. BMI was computed using maternal weight and height measured before pregnancy or during early pregnancy. External birth defects were identified through a unique birth defects surveillance system. We estimated the birth prevalence and prevalence odds ratios (POR) for NTDs by Chinese BMI categories, controlling for potential confounders.Results: Our study population included a total of 194,844 women. We observed significantly elevated risk for spina bifida (adjusted POR = 5.4, 95% CI: 1.3–22.5) among children born to obese compared to normal weight women. Among women who took folic acid supplements, the adjusted POR for spina bifida among obese women was 10.0 (95% CI: 2.3–42.6) compared to pill users who were of normal weight. Borderline significantly elevated risk was observed for anencephaly (adjusted POR = 1.8; 95% CI: 1.0–3.2) among children born to underweight compared to normal weight women.Conclusions: Our findings suggest that maternal periconceptional obesity may be associated with an increased risk for spina bifida. Maternal underweight may be associated with increased risk for anencephaly.

A case-control analysis of maternal diet and risk of neural tube defects in Bangladesh.

Mothers need a nutrient-rich diet for healthy neural tube development. Neural tube defect risk can be reduced through fortifying grain products with folic acid and taking folic acid supplements. Fortification is not required in Bangladesh. Maternal supplement use rates are low, similar to other countries. This study evaluates maternal dietary intake during pregnancy to identify possible interventions. A food frequency questionnaire (FFQ) assessed maternal diet. The primary aim compared dietary intake (calories, fat, carbohydrate, protein, fiber, vitamins, and minerals) between mothers of infants with myelomeningocele (cases) and mothers of controls. Secondary aims included (i) comparing foods consumed and (ii) evaluating if rice intake correlated with arsenic exposure. Paired t-tests, Wilcoxon signed rank tests, McNemar's chi-squared test, and linear regression were used. This study included 110 matched mother-infant pairs (55 cases/55 controls). Mothers of cases and mothers of controls had similar caloric intake [median 2406 kcal/day vs. 2196 kcal/day (p = 0.071)]. Mothers in both groups consumed less than half the daily recommended 600 μg of folate. Diets were potentially deficient in vitamins A, D, E, potassium, sodium, and iron. Steamed rice was the primary food consumed for both groups, and this rice intake was not associated with toenail arsenic. Dietary interventions should increase folate, vitamins A, D, E, potassium, sodium, and iron intake in Bangladeshi mothers. Folic acid fortification of grain products maybe the only viable strategy to achieve adequate folate intake for mothers. Given the central role of rice to the Bangladeshi diet, fortifying rice may be a viable option.

Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.

BackgroundWe examined the association between the maternal genotype for celiac disease‐associated variants and risk of neural tube defects (NTDs).MethodsWe conducted a case–control study, using data from the National Birth Defects Prevention Study. We evaluated 667 cases (women with an offspring with NTD) and 743 controls (women with an offspring without a birth defect). We classified women as having low, intermediate, or high risk of celiac disease based on human leukocyte antigen (HLA) variants. We used logistic regression to assess the relationship between HLA celiac risk group (low, intermediate, high) and risk of NTDs. Fifteen non‐HLA variants (identified from genome‐wide association studies of celiac disease) were individually evaluated and modeled additively.ResultsThere was no association between HLA celiac risk group and NTDs (intermediate vs. low risk: aOR, 1.0; 95% CI, 0.8–1.3; high vs. low risk: aOR, 0.8; 95% CI, 0.5–1.3). Of the fifteen non‐HLA variants, we observed five significant associations after accounting for multiple comparisons. Three negative associations were observed with rs10903122, rs13314993, rs13151961 (aOR range: 0.69–0.81), and two positive associations were observed with rs13003464 and rs11221332 (aOR range: 1.27–1.73).ConclusionIf confirmed, our results suggest that the maternal variants related to celiac disease may be involved in the risk of NTDs.

Risks and Benefits of Dolutegravir- and Efavirenz-Based Strategies for South African Women With HIV of Child-Bearing Potential: A Modeling Study.

Dolutegravir is superior to efavirenz for HIV antiretroviral therapy (ART) but may be associated with an increased risk for neural tube defects (NTDs) in newborns if used by women at conception. To project clinical outcomes of ART policies for women of child-bearing potential in South Africa. Model of 3 strategies: efavirenz for all women of child-bearing potential (EFV), dolutegravir for all women of child-bearing potential (DTG), or World Health Organization (WHO)-recommended efavirenz without contraception or dolutegravir with contraception (WHO approach). Published data on NTD risks (efavirenz, 0.05%; dolutegravir, 0.67% [Tsepamo study]), 48-week ART efficacy with initiation (efavirenz, 60% to 91%; dolutegravir, 96%), and age-stratified fertility rates (2 to 139 per 1000 women). 3.1 million South African women with HIV (aged 15 to 49 years) starting or continuing first-line ART, and their children. 5 years. Societal. EFV, DTG, and WHO approach. Deaths among women and children, sexual and pediatric HIV transmissions, and NTDs. Compared with EFV, DTG averted 13700 women's deaths (0.44% decrease) and 57700 sexual HIV transmissions, but increased total pediatric deaths by 4400 because of more NTDs. The WHO approach offered some benefits compared with EFV, averting 4900 women's deaths and 20500 sexual transmissions while adding 300 pediatric deaths. Overall, combined deaths among women and children were lowest with DTG (358000 deaths) compared with the WHO approach (362800 deaths) or EFV (367300 deaths). Women's deaths averted with DTG exceeded pediatric deaths added with EFV unless dolutegravir-associated NTD risk was 1.5% or greater. Uncertainty in NTD risks and dolutegravir efficacy in resource-limited settings, each examined in sensitivity analyses. Although NTD risks may be higher with dolutegravir than efavirenz, dolutegravir will lead to many fewer deaths among women, as well as fewer overall HIV transmissions. These results argue against a uniform policy of avoiding dolutegravir in women of child-bearing potential. National Institutes of Health, National Institute of Allergy and Infectious Diseases and Eunice Kennedy Shriver National Institute of Child Health and Human Development; Massachusetts General Hospital; and Harvard University Center for AIDS Research.

Evaluation of Neural Tube Defects (NTDs) After Exposure to Raltegravir During Pregnancy.

Objective:To evaluate the risk of neural tube defects (NTDs) after exposure to raltegravir during pregnancy.Methods:Exposures to raltegravir during pregnancy reported cumulatively through May 31, 2018, to the company safety database were reviewed to identify cases of NTDs. This database includes all reports of pregnancy from Merck-sponsored clinical trials, spontaneous postmarketing reports, and non-interventional data sources, including the Antiretroviral Pregnancy Registry (APR). Reports were classified as prospective (before knowledge of pregnancy outcome) or retrospective (after knowledge of pregnancy outcome). We also reviewed data from 2 ongoing pregnancy cohorts.Results:A total of 2426 pregnancies with reported outcomes were identified among women exposed to raltegravir: 1238 from the Merck database and 1188 from United Kingdom/Ireland and French pregnancy cohorts. Among all 2426 reports, 1991 were prospective. No cases of NTDs were identified among the prospective pregnancy reports, of which 767 were first trimester, including 456 in the periconception period (at or within 28 days after conception). Among the 435 retrospective reports, 3 NTD cases per APR criteria were identified (anencephaly, and 2 meningomyelocele), of which only one (meningomyelocele) was among exposures in the periconception period. Given the inherent limitations and bias of retrospective reports, it is not appropriate to calculate an incidence rate.Conclusions:Prospectively collected pregnancy outcome data do not suggest an association between raltegravir exposure in the periconception period and NTDs. The current data support the updated DHHS and EACS treatment guidelines for use of raltegravir as a preferred integrase inhibitor in all stages of pregnancy.

Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects

The risk of neural tube defects (NTDs) is influenced by nutritional factors and genetic determinants of one-carbon metabolism. A key pathway of this metabolism is the vitamin B-12- and folate-dependent remethylation of homocysteine, which depends on methionine synthase (MS, encoded by MTR), methionine synthase reductase, and methylenetetrahydrofolate reductase. Methionine, the product of this pathway, is the direct precursor of S-adenosylmethionine (SAM), the universal methyl donor needed for epigenetic mechanisms. This study aimed to evaluate whether the availability of vitamin B-12 and folate and the expression or activity of the target enzymes of the remethylation pathway are involved in NTD risk. We studied folate and vitamin B-12 concentrations and activity, expression, and gene variants of the 3 enzymes in liver from 14 NTD and 16 non-NTD fetuses. We replicated the main findings in cord blood from pregnancies of 41 NTD fetuses compared with 21 fetuses with polymalformations (metabolic and genetic findings) and 375 control pregnancies (genetic findings). The tissue concentration of vitamin B-12 (P=0.003), but not folate, and the activity (P=0.001), transcriptional level (P=0.016), and protein expression (P=0.003) of MS were decreased and the truncated inactive isoforms of MS were increased in NTD livers. SAM was significantly correlated with MS activity and vitamin B-12. A gene variant in exon 1 of GIF (Gastric Intrinsic Factor gene) was associated with a dramatic decrease of liver vitamin B-12 in 2 cases. We confirmed the decreased vitamin B-12 in cord blood from NTD pregnancies. A gene variant of GIF exon 3 was associated with NTD risk. The decreased vitamin B-12 in liver and cord blood and decreased expression and activity of MS in liver point out the impaired remethylation pathway as hallmarks associated with NTD risk. We suggest evaluating vitamin B-12 in the nutritional recommendations for prevention of NTD risk beside folate fortification or supplementation.

Association of maternal chronic arsenic exposure with the risk of neural tube defects in Northern China

Numerous animal studies have shown that high arsenic exposure can induce neural tube defect (NTD) formation. However, epidemiological evidence related to this finding is scarce. The key objective of our study is to evaluate whether maternal arsenic exposure is associated with NTD risk in Northern China. Our case–control study was conducted in 11 countries or cities in Shanxi and Hebei provinces during 2003–2007. A total of 774 mothers were included as participants: 511 controls and 263 cases (including 123 with anencephaly, 115 with spina bifida, 18 with encephalocele, and 7 with other NTD subtypes). The arsenic concentration was measured in a specific section of hair that grew from 3 months before to 3 months after conception. We found a higher hair arsenic concentration in the NTD cases with median (inter-quartile range) of 0.093 (0.025–0.387) μg/g hair than that in the controls with a value of 0.082 (0.030–0.414) μg/g hair. Maternal hair arsenic concentration above its median of the controls was associated with an increased risk of the total NTDs with an adjusted odds ratio (OR) of 1.32 [95% confidence interval (CI): (0.91–1.92)], which was not statistically significant (p = 0.14), although the crude OR without adjusting for the confounders of 1.68 (95% CI: 1.24–2.27; p < 0.001) suggested that hair arsenic is a risk factor of NTDs. There was no dose-response relationship between maternal hair arsenic concentration and the risk of total NTDs. Similar phenomena were found for anencephaly and spina bifida, respectively. Overall, our findings showed that maternal periconceptional arsenic exposure may not significantly contribute to the risk of NTD development in Northern China; other risk factors need to be further examined in future studies.

One-Carbon Cofactor Intake and Risk of Neural Tube Defects Among Women Who Meet Folic Acid Recommendations: A Multicenter Case-Control Study.

We aimed to investigate associations between individual and concurrent (≥2) intakes of one-carbon cofactors vitamins B6 and B12, choline, betaine, and methionine and neural tube defect (NTD) outcomes among mothers meeting the folic acid recommendations. In the Slone Birth Defects Study (case-control design; North America, 1998-2015), mothers of 164 NTD cases and 2,831 nonmalformed controls completed food frequency questionnaires and structured interviews. Estimated intakes of one-carbon cofactors were dichotomized (high vs. low) for all except betaine (low or middle vs. high). We used logistic regression models to estimate odds ratios and 95% confidence intervals adjusted for center, age, and race. The analysis was restricted to mothers with estimated daily total folate intake of ≥400 μg during periconception. Fewer cases, compared with controls, had high intakes for each one-carbon cofactor except betaine, where the starkest contrast occurred in the middle group. Women with concurrent high intakes of B6, B12, choline, and methionine and moderate intake of betaine had approximately half the risk of an NTD-affected pregnancy (odds ratio = 0.49, 95% confidence interval: 0.23, 1.08). These findings suggest that, in the presence of folic acid, one-carbon cofactors-notably when consumed together-might reduce NTD risk. Additional research should inform any changes to clinical recommendations.

Pharmacokinetics and Safety of the Integrase Inhibitors Elvitegravir and Dolutegravir in Pregnant Women With HIV.

Objective: To synthesize data on the pharmacokinetics and safety of dolutegravir and elvitegravir in pregnant women living with HIV. Data Sources: A PubMed, EMBASE, Web of Science, and Google Scholar literature search (January 2010 to December 2018) was performed using the search terms dolutegravir, elvitegravir, women, pregnant*, and HIV. Additional reports were identified from conference abstracts and review of reference lists. Study Selection and Data Extraction: English-language studies reporting pharmacokinetic and/or safety data in pregnant women receiving dolutegravir or elvitegravir/cobicistat were included. Data Synthesis: A total of 17 studies were selected. Studies demonstrated a modest decrease in dolutegravir concentrations in pregnancy. Preliminary data suggest an increased risk of neural tube defects when dolutegravir is used at the time of conception. Available pharmacokinetic data in pregnant women showed significantly reduced plasma concentrations of elvitegravir/cobicistat which may increase the risk of virological failure. Current guidelines recommend that dolutegravir should not be initiated in women who have the potential to become pregnant or women in their first trimester of pregnancy and elvitegravir/cobicistat should be avoided during pregnancy. Relevance to Patient Care and Clinical Practice: This review highlights pharmacokinetic and safety data for dolutegravir and elvitegravir/cobicistat in pregnant women. Clinicians need to be aware of these data to convey the risks and benefits of using these agents in women of child-bearing potential. Conclusions: Changes in guideline recommendations reflect emerging data regarding the use of dolutegravir and elvitegravir/cobicistat in pregnancy. Until further information is available, raltegravir or other first-line agents are recommended for women with HIV planning to become pregnant.

Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study

The risk of neural tube defect (NTD)-affected pregnancies is reduced with adequate folic acid intake during early pregnancy. However, NTDs have been observed among offspring of women with adequate folic acid intake. Some of these women are possibly not absorbing enough folic acid. Because lactase deficiency can lead to poor nutrient absorption, we hypothesized that lactase-deficient women will be at increased risk of having offspring with NTDs. We examined the association between maternal rs4988235 (a lactase deficiency genetic marker) and NTDs in offspring. We conducted a case-control study using data from the National Birth Defects Prevention Study, United States, 1997-2009, restricting to non-Hispanic white (NHW) and Hispanic women. Cases were women with an offspring with an NTD (n = 378 NHW, 207 Hispanic), and controls were women with an offspring without a birth defect (n = 461 NHW, 165 Hispanic). Analyses were conducted separately by race/ethnicity, using logistic regression. Women with the CC genotype were categorized as being lactase deficient. To assess potential effect modification, analyses were stratified by lactose intake, folic acid supplementation, dietary folate, and diet quality. Among NHW women, the odds of being lactase deficient were greater among cases compared with controls (OR: 1.37; 95% CI: 1.02, 1.82). Among Hispanic women, the odds of being lactase deficient were significantly lower among cases compared with controls (OR: 0.50, 95% CI: 0.33, 0.77). The association differed when stratified by lactose intake in NHW women (higher odds among women who consumed ≥12 g lactose/1000 kcal) and by dietary folate in Hispanic women (opposite direction of associations). The association did not differ when stratified by folic acid supplementation or diet quality. Our findings suggest that maternal lactase deficiency is associated with NTDs in offspring. However, we observed opposite directions of effect by race/ethnicity that could not be definitively explained.

Women's periconceptional lowered carbohydrate intake and NTD-affected pregnancy risk in the era of prefortification with folic acid.

A recent study observed women's restricted carbohydrate diet in the year before conception was associated with increased risk of neural tube defect (NTD)-affected pregnancies. That study corresponded to the era of postfortification of folic acid. Because folic acid and carbohydrate measures would derive from similar foods, investigators of that study could not determine whether the increased risk with restricted carbohydrate intake was a consequence of lower folate intake. We extend their novel observation by examining rigorous NTD data prior to folic acid fortification. Data were derived from a population-based case-control study of fetuses and infants with NTDs among 1989-1991 California births. Interviews were conducted with mothers of 449 NTD cases and with mothers of 458 nonmalformed controls. A standard 100-item food frequency questionnaire was used to assess macro- and micronutrient intakes based on reported intakes 3 months before conception. Case mothers were twice as likely to have consumed a low carbohydrate (≤5th percentile intake among controls) diet with a crude odds ratio of 2.0 (95% confidence interval, 1.2-3.4). Adjustment for race/ethnicity, education, alcohol intake, and folic acid use made very little difference on the odds ratio. Adjustment for total energy intake appeared to be the only factor to slightly attenuate the odds ratio. Our findings indicate that the association between low carbohydrate intake and NTD risk may not be wholly a function of low folic acid in the postfortification era. Such a finding offers new clues to pursue for the seemingly folate-insensitive NTDs that continue to occur.

Dried blood spot microbiological assay indicates high prevalence of folate deficiency in rural adult men and women in the Haitian Central Plateau

Although folate deficiency is linked to adverse health effects, limited data exist characterizing the problem in rural settings. This study determined the prevalence of folate deficiency and anemia in rural adults in the Haitian Central Plateau using combined laboratory methods. Dried blood spots (DBSs) and hemoglobin measurements were collected from adult men and women selected by cluster random sampling in Haiti's Central Plateau. DBSs were analyzed for folate using a microbiological assay. Hemoglobin levels were determined using both a HemoCue photometer and the sodium lauryl sulfate microplate method. Red cell folate (RCF) levels were determined by normalizing DBS folate to hemoglobin. Of the 197 subjects assessed for hemoglobin, 11.4% of males and 21.0% of females were anemic (male: hemoglobin<12 g/dL; female: hemoglobin<11 g/dL). Of the 173 subjects assessed for RCF, 27.9% of men and 14.9% of women were folate deficient (RCF<340 nmol/L). Among reproductive-age women, 83.6% had RCF levels associated with a risk of neural tube defects of >14 per 10 000 live births (RCF≤699 nmol/L). Adults in the Haitian Central Plateau suffer from high rates of anemia and folate deficiency, putting the population at elevated risk for disease. DBSs and microbiological assay make folate evaluation feasible, even in low-resource regions.

Prepregnancy asthma and the subsequent risk of central nervous system defects in offspring.

The relationship between childhood asthma and central nervous system defects in offspring is poorly understood. We assessed if childhood asthma was associated with the risk of having an infant with neural tube or other nervous system defects compared with asthma during pregnancy. We analyzed a longitudinal cohort of 128,060 women who were 5 years or less at study entry and later delivered an infant in Quebec, Canada (1989-2014). We identified women hospitalized for asthma before pregnancy, including childhood and adolescence, and determined if asthma was present during pregnancy based on obstetric records. Main outcomes were neural tube and non-neural tube defects in pregnancy. We used log-binomial regression models to determine risk ratios (RR) and 95% confidence intervals (CI) for the association between asthma and risk of nervous system defects, adjusting for patient characteristics. Asthma was associated with a greater risk of neural tube defects in offspring (RR 2.39, 95% CI 1.03-5.53) compared with no asthma, but not non-neural tube defects (RR 1.10, 95% CI 0.71-1.71). Women whose asthma resolved before pregnancy had a greater risk of neural tube defects (RR 3.43, 95% CI 1.35-8.69), while women with asthma during pregnancy were at greater risk of non-neural tube defects, especially microcephaly (RR 2.80, 95% CI 1.23-6.40). Asthma that resolved before pregnancy was associated with an increased risk of neural tube defects in offspring but not non-neural tube defects. Further investigation is needed to determine the pathophysiology connecting childhood asthma with nervous system defects in offspring.

Periconceptional folic acid supplementation: Knowledge, attitudes and counselling practice of Serbian pharmacists and pharmacy technicians

Background/Aim. The protective effect of periconceptional folic acid supplementation in reducing the risk of neural tube defects (NTDs) and other adverse pregnancy outcomes has been scientifically confirmed. The present study aimed to assess knowledge, attitudes, and practice (KAP) of community pharmacists and pharmacy technicians with regards to counselling women of reproductive age on adequate folate intake. Methods. The cross-sectional study was conducted among the nationwide stratified sample of pharmacists and pharmacy technicians, practicing in both private and state-owned community pharmacies in Serbia. The detailed literature review, expert consultation and pre-testing were employed in the questionnaire development. The descriptive and inferential statistical analyses were performed using the SPSS software ver. 22. Results. Among 730 survey participants, 96.6% correctly identified types of deformities that could be prevented by folic acid and 77.0% recognized recommended dosage for women capable of becoming pregnant. However, fewer were able to recognize the optimal timing for folic acid supplementation (61.1%) and the proper dose for the NTD recurrence prevention (42.9 %). While 43.2% of pharmacy technicians thought that it was not their responsibility to provide a counselling concerning the measures for the prevention of congenital anomalies, only 4.7% of licensed pharmacists and none of the interns were of that opinion (?2 = 198.287; df = 4; p &lt; 0.001). The majority of respondents (54.7%) reported provision of informative consultation concerning folic acid once a week, or few times a month, while only 10 stated to do so on a daily basis. In addition, based on self-report, only 36.7% of participants communicates information and advice regarding adequate folate status at their own initiative, while the rest addresses this topic only on the patients request, i.e., reactively. Conclusion. Although participants acknowledged the importance of their role in preconception health promotion, our findings revealed certain knowledge gaps as well as dominantly reactive counselling practice. Tailored educational interventions and professional support are needed to improve the engagement of community pharmacy personnel in this area of public health.

Prepregnancy counseling: Committee Opinion No. 762

The goal of prepregnancy care is to reduce the risk of adverse health effects for the woman, fetus, and neonate by working with the woman to optimize health, address modifiable risk factors, and provide education about healthy pregnancy. All those planning to initiate a pregnancy should be counseled, including heterosexual, lesbian, gay, bisexual, transgender, queer, intersex, asexual, and gender nonconforming individuals. Counseling can begin with the following question: "Would you like to become pregnant in the next year?" Prepregnancy counseling is appropriate whether the reproductive-aged patient is currently using contraception or planning pregnancy. Because health status and risk factors can change over time, prepregnancy counseling should occur several times during a woman's reproductive lifespan, increasing her opportunity for education and potentially maximizing her reproductive and pregnancy outcomes. Many chronic medical conditions such as diabetes, hypertension, psychiatric illness, and thyroid disease have implications for pregnancy outcomes and should be optimally managed before pregnancy. Counseling patients about optimal intervals between pregnancies may be helpful to reduce future complications. Assessment of the need for sexually transmitted infection screening should be performed at the time of prepregnancy counseling. Women who present for prepregnancy counseling should be offered screening for the same genetic conditions as recommended for pregnant women. All patients should be routinely asked about their use of alcohol, nicotine products, and drugs, including prescription opioids and other medications used for nonmedical reasons. Screening for intimate partner violence should occur during prepregnancy counseling. Female prepregnancy folic acid supplementation should be encouraged to reduce the risk of neural tube defects.

Particularities of pregnancy follow-up in obese patients

Since obesity has reached epidemic proportions even at very young ages, subsequently we notice an increased number of pregnancies in these categories of patients with higher rates of obstetrics complications such as: gestational diabetes, hypertensive disorders, and augmented rates of preterm birth and caesarean section. Maternal obesity has been proven to be associated with an increased risk of congenital malformations, including a significantly increased risk for neural tube defects, congenital heart defects, and orofacial clefts in the offspring, but despite their increased number, malformation detection rate is lower in obese patients. The screening procedures for detecting Down syndrome offered to pregnant women have changed over the last decades. Unfortunately, classical serum screening for Down syndrome testing performs worse in obese patients, the fetal fraction in maternal plasma cf-DNA being affected by maternal excessive weight. In this article, we aim to review the particularities of the available prenatal test and procedures in obese and overweight pregnant women.

ACOG Committee Opinion No. 762 Summary: Prepregnancy Counseling.

The goal of prepregnancy care is to reduce the risk of adverse health effects for the woman, fetus, and neonate by working with the woman to optimize health, address modifiable risk factors, and provide education about healthy pregnancy. All those planning to initiate a pregnancy should be counseled, including heterosexual, lesbian, gay, bisexual, transgender, queer, intersex, asexual, and gender nonconforming individuals. Counseling can begin with the following question: "Would you like to become pregnant in the next year?" Prepregnancy counseling is appropriate whether the reproductive-aged patient is currently using contraception or planning pregnancy. Because health status and risk factors can change over time, prepregnancy counseling should occur several times during a woman's reproductive lifespan, increasing her opportunity for education and potentially maximizing her reproductive and pregnancy outcomes. Many chronic medical conditions such as diabetes, hypertension, psychiatric illness, and thyroid disease have implications for pregnancy outcomes and should be optimally managed before pregnancy. Counseling patients about optimal intervals between pregnancies may be helpful to reduce future complications. Assessment of the need for sexually transmitted infection screening should be performed at the time of prepregnancy counseling. Women who present for prepregnancy counseling should be offered screening for the same genetic conditions as recommended for pregnant women. All patients should be routinely asked about their use of alcohol, nicotine products, and drugs, including prescription opioids and other medications used for nonmedical reasons. Screening for intimate partner violence should occur during prepregnancy counseling. Female prepregnancy folic acid supplementation should be encouraged to reduce the risk of neural tube defects.

ACOG Committee Opinion No. 762: Prepregnancy Counseling.

The goal of prepregnancy care is to reduce the risk of adverse health effects for the woman, fetus, and neonate by working with the woman to optimize health, address modifiable risk factors, and provide education about healthy pregnancy. All those planning to initiate a pregnancy should be counseled, including heterosexual, lesbian, gay, bisexual, transgender, queer, intersex, asexual, and gender nonconforming individuals. Counseling can begin with the following question: "Would you like to become pregnant in the next year?" Prepregnancy counseling is appropriate whether the reproductive-aged patient is currently using contraception or planning pregnancy. Because health status and risk factors can change over time, prepregnancy counseling should occur several times during a woman's reproductive lifespan, increasing her opportunity for education and potentially maximizing her reproductive and pregnancy outcomes. Many chronic medical conditions such as diabetes, hypertension, psychiatric illness, and thyroid disease have implications for pregnancy outcomes and should be optimally managed before pregnancy. Counseling patients about optimal intervals between pregnancies may be helpful to reduce future complications. Assessment of the need for sexually transmitted infection screening should be performed at the time of prepregnancy counseling. Women who present for prepregnancy counseling should be offered screening for the same genetic conditions as recommended for pregnant women. All patients should be routinely asked about their use of alcohol, nicotine products, and drugs, including prescription opioids and other medications used for nonmedical reasons. Screening for intimate partner violence should occur during prepregnancy counseling. Female prepregnancy folic acid supplementation should be encouraged to reduce the risk of neural tube defects.

Frequency and Risk Factors of Neural Tube Defects In Samsun Province

Abstract Background: Neural tube defects (NTD) are a group of severe human congenital malformations and complex disorders appear to be affected by multiple factors, both genetic and environmental contributions. Aim: To asses the frequency of NTD in Samsun province and investigate the relationship between NTD and sociodemographic properties of families, maternal eating habits, maternal serum folic acid, and vitamin B12 levels. Study design : Case- control study Method: The women who gave birth to infants with NTDs and whose pregnancies were terminated due to having fetuses with NTDs between July 2007 and September 2008 were included in the study. The frequency of NTD was calculated from medical records for Samsun province. Sociodemographic characteristics, nutritional status, obstetric histories teratogen exposure and vitamin B12 and folic acid levels of study group were compared with controls. Results: In the study period, 63 fetuses with isolated NTD were noted. The frequency of NTD in Samsun region was %o3,4. In the study group, family incomes , maternal education and consumption of meat, milk, egg, cheese, vegetable, and legumes were lower than the control group (p<0.05). Sharing of the house with grandparents, unemployment rate, rate of febrile diseases, use of antipyretics, exposure to radiation were higher (p<0.05). Both maternal serum vitamin B12, folic acid in NTD group were lower than controls. Conclusion: The frequency of NTD in Samsun region was relatively high. NTD was more frequent in individuals with poor maternal education, low income, and insufficient nutrition. Low serum vitamin B12 and folic acid levels posed an increased risk for NTD. The importance of the vitamin supplements during pregnancy is to be better appreciated by the health authorities as well as the families.