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Background: Short leukocyte telomere length is a biomarker associated with stress and morbidity in non-pregnant adults. Little is known, however, about maternal telomere dynamics in pregnancy. To address this, we examined changes in maternal leukocyte telomere length (LTL) during uncomplicated pregnancies and explored correlations with perceived stress.Methods: In this pilot study, maternal LTL was measured in blood collected from nulliparas who delivered live, term, singleton infants between 2012 and 2018 at a single institution. Participants were excluded if they had diabetes or hypertensive disease. Samples were collected over the course of pregnancy and divided into three time periods: < 200/7 weeks (Timepoint 1); 201/7 to 366/7 weeks (Timepoint 2); and 370/7 to 9-weeks postpartum (Timepoint 3). All participants also completed a survey assessing a multivariate profile of perceived stress at the time of enrollment in the first trimester. LTL was measured using quantitative polymerase chain reaction (PCR). Wilcoxon signed-rank tests were used to compare LTL differences within participants across all timepoint intervals. To determine whether mode of delivery affected LTL, we compared postpartum Timepoint 3 LTLs between participants who had vaginal versus cesarean birth. Secondarily, we evaluated the association of the assessed multivariate stress profile and LTL using machine learning analysis.Results: A total of 115 samples from 46 patients were analyzed. LTL (mean ± SD), expressed as telomere to single copy gene (T/S) ratios, were: 1.15 ± 0.26, 1.13 ± 0.23, and 1.07 ± 0.21 for Timepoints 1, 2, and 3, respectively. There were no significant differences in LTL between Timepoints 1 and 2 (LTL T/S change - 0.03 ± 0.26, p = 0.39); 2 and 3 (- 0.07 ± 0.29, p = 0.38) or Timepoints 1 and 3 (- 0.07 ± 0.21, p = 0.06). Participants who underwent cesareans had significantly shorter postpartum LTLs than those who delivered vaginally (T/S ratio: 0.94 ± 0.12 cesarean versus 1.12 ± 0.21 vaginal, p = 0.01). In secondary analysis, poor sleep quality was the main stress construct associated with shorter Timepoint 1 LTLs (p = 0.02) and shorter mean LTLs (p = 0.03).Conclusions: In this cohort of healthy pregnancies, maternal LTLs did not significantly change across gestation and postpartum LTLs were shorter after cesarean than after vaginal birth. Significant associations between sleep quality and short LTLs warrant further investigation. [ABSTRACT FROM AUTHOR]

Background: Sacral agenesis (SA) consists of partial or complete absence of the caudal end of the spine and often presents with additional birth defects. Several studies have examined gene variants for syndromic forms of SA, but only one has examined exomes of children with non‐syndromic SA. Methods: Using buccal cell specimens from families of children with non‐syndromic SA, exomes of 28 child–parent trios (eight with and 20 without a maternal diagnosis of pregestational diabetes) and two child–father duos (neither with diagnosis of maternal pregestational diabetes) were exome sequenced. Results: Three children had heterozygous missense variants in ID1 (Inhibitor of DNA Binding 1), with CADD scores >20 (top 1% of deleterious variants in the genome); two children inherited the variant from their fathers and one from the child's mother. Rare missense variants were also detected in PDZD2 (PDZ Domain Containing 2; N = 1) and SPTBN5 (Spectrin Beta, Non‐erythrocytic 5; N = 2), two genes previously suggested to be associated with SA etiology. Examination of variants with autosomal recessive and X‐linked recessive inheritance identified five and two missense variants, respectively. Compound heterozygous variants were identified in several genes. In addition, 12 de novo variants were identified, all in different genes in different children. Conclusions: To our knowledge, this is the first study reporting a possible association between ID1 and non‐syndromic SA. Although maternal pregestational diabetes has been strongly associated with SA, the missense variants in ID1 identified in two of three children were paternally inherited. These findings add to the knowledge of gene variants associated with non‐syndromic SA and provide data for future studies. [ABSTRACT FROM AUTHOR]

Inadequate maternal nutritional status has been implicated in the etiology of preterm delivery, low birth weight, and certain congenital malformations (1-4). A woman's dietary and health practices in the period [...], Objective To describe the health practices and energy and nutrient intakes from diet and supplements of foreign- and US-born Latinas and white non-Latinas in the 3 months before pregnancy. Design A descriptive study in which data were obtained retrospectively from 2 questionnaires: an interviewer-administered questionnaire on the subject's medical, reproductive, family, occupational, and lifestyle history and a subject-administered (and interviewer-assisted) 100-item food frequency questionnaire. Subjects/setting A population-based sample of California women (n = 462) who gave birth between 1989 and 1991 to single, live-born infants. One third of women were Latinas, of whom 58.1% were foreign born. Statistical analyses Means, standard deviations, and percentiles were computed for energy and nutrient intakes of the total population and for white non-Latinas; US-born Latinas; and foreign-born Latinas. One-way analysis of variance was used to compare group means. Results Mean and median energy intake in all ethnic groups exceeded 2,000 kcal/day, although less than half of the population consumed 5 servings of fruit and vegetables per day. For iron, half of the women were below the Recommended Dietary Allowance. In contrast to the dietary intake of white non-Latinas and US-born Latinas, foreign-born Latinas had the lowest contribution of fat to total energy intake and the highest dietary intake of carbohydrate, cholesterol, fiber, grain products, protein foods, folate, vitamin C, iron, and zinc. Conclusions A woman's ethnicity, as well as whether her place of birth was within or outside of the United States, may be predictors of her dietary and health practices before pregnancy. Vitamin, mineral, and food supplementation and consumption of cold breakfast cereal may be avenues for improving perinatal micronutrient intake.

Objectives. This study investigated a previously reported 50% or more increased risk for neural tube defect-affected pregnancies among Latina women compared with White women. Methods. Data were derived from a population-based case-control study of fetuses and live-born infants with neural tube defects in a 1989-through-1991 California birth cohort. Interviews were conducted with mothers of 538 (88% of eligible) infants/fetuses with neural tube defects and mothers of 539 (88%) nonmalformed control infants. Results. The risk for a neural tube defect-affected pregnancy was approximately twice as high among women of Mexican descent than among White women (odds ratio = 1.9, 95% confidence interval [CI] = 1.5, 2.8). The odds ratio for Mexico-born Mexican women compared with White women was 2.4 (95% CI = 1.7, 3.2), whereas the risk for US-born women of Mexican and other racial/ethnic descent was not substantially higher than that for Whites. The higher risk among Mexico-born Mexican women was not attributable to differences in numerous studied parental characteristics and exposures. Conclusions. Given that nearly 20% of all California births are to Mexico-born Mexican women, the increased risks observed are relevant to the population burden of neural tube defects. (Am J Public Health. 1997;87:1467-1471)

The risk of neural tube defects (NTDs) appears to be higher in the infants of women who were obese before pregnancy, but it is not clear why. An example of a NTD is spina bifida, which occurs when the spinal column does not completely close over the spinal cord. Researchers used a database of medical records for 538 infants born with NTD that included information about the mother. Compared to women weighing between 48 and 77 kilograms (kg), women weighing over 100 kg were twice as likely to have a baby with NTD. Shortness was also associated with a higher risk of having a baby with NTD. Women with a body mass index of 38 kilograms per meter squared (kg/m2) or greater were 2.6 times more likely to have a baby with NTD than women with a body mass index of 19 to 27 kg/m2. This association persisted even after excluding women with diabetes. There was no association between folic acid intake, high blood pressure or any other nutritional factor and high risk of NTD., Objective.--To investigate the risk for neural tube defect (NTD)--affected pregnancies among obese women (ie, women with a body mass index [BMI] >29 kg/ [m.sup.2]) compared with women of average prepregnancy weight. Design.--Population-based case-control study. Setting.--All hospitals in 55 of 58 counties in California. Participants.--In-person interviews were conducted with mothers of 538 (88% of eligible) NTD cases (including fetuses and infants electively terminated, stillborn, or born alive) and with mothers of 539 nonmalformed controls (88%) within an average of 5 months from the term delivery date. Main Outcome Measures.--The risk of an NTD-affected pregnancy among obese women. Results.--Compared with women whose BMI was less than or equal to 29 kg/ [m.sup.2], an increased risk for NTD-affected pregnancy was observed among obese women (odds ratio, 1.9;95% confidence interval, 1.3 to 2.9). The increased risk was not attributable to maternal nonuse of a vitamin containing folic acid, diabetes, use of diet pills, lower dietary folate intake, or an NTD-pregnancy history. Adjustment for maternal age, education, gravidity, use of vitamins, and use of alcohol did not change the odds ratio. The risk associated with maternal obesity was greater for spine bifida and for other less prevalent NTDs than for anencephaly. Conclusion.--Because as many as 10% of women may be obese periconceptionally, the observed twofold increased risk is relevant to the population burden of NTDs.

This study examined the prevalence of congenital malformations across the maternal age spectrum and identified specific malformation types that contributed to the overall prevalence among mothers under the age of 20 years. Data were derived from the California Birth Defects Monitoring Program for 1983 through 1988 live births. The distribution of prevalences of all nonchromosomal malformations was U-shaped across maternal age. Furthermore, several specific malformation types, representing nearly every organ system, were elevated among the infants of women under 20 years of age in comparison with those of women 25 to 29 years old. (Am J Public Health. 1995;85:710-713), Non-chromosomal birth malformations are more likely to occur when mothers are at the younger and older ends of the child-bearing age spectrum. According to the California Birth Defects Monitoring Program, out of 1,028,255 births between 1983 and 1988, 29,848 live babies were born with malformations. Thus, malformed babies were born at a rate of 29.1 per 1000 live births. Of the malformed babies, 11% had mothers younger than 20. The incidence of non-chromosomal malformations is highest among mothers younger than 20 or older than 40. This distribution results in a U-shaped curve when malformation prevalence is graphed across maternal age. The lowest incidence of malformation is among mothers aged 25 to 29. However, the relationship between maternal age and birth malformations exists only among Whites and Asians, not among Blacks.