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Folic acid supplementation can reduce the incidence of neural tube defects. The fast reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect. (J Child Neurol 2002; 17:30–32). [ABSTRACT FROM AUTHOR]

Background: Birth defects represent one of the main causes of infant mortality and morbidity around the world., Objective: The purpose of this study is to identify seasonal changes in the incidence of various congenital anomalies in our population., Methods: We identified all cases of open neural tube defects, cardiac anomalies, cleft lip and palate and gastroschisis of children born in Puerto Rico and reported to the Health's Department Birth Registry Program between January 1995 and December 2005. The conception dates were determined by estimation based on the reported last menstrual period. All deliveries during this same period were recorded and their conception dates estimated in the same manner. The data for each anomaly was separated into 4 groups for each year studied corresponding to the four seasons. The sample was stratified based on the type of anomaly detected and the season when conception took place., Results: There is a seasonal pattern in the rate of conceptions in Puerto Rico with the highest incidence during the winter and lowest during the summer months. We detected a statistically significant increase in the incidence and relative risk during the summer months (using winter as a reference) of conceiving a child with open neural tube defects (1.03/1000, RR:1.33), cardiac anomalies (5.22/1000, RR:1.39), or cleft lip and palate (1.68/1000, RR:1.89). Gastroschisis did not show a statistically significant difference in the rate of conceptions, but there was a tendency towards a higher incidence during spring (0.39/1000, RR:1.67)., Conclusions: The reported seasonal variation in the incidence of open neural tube defects, cardiac anomalies, and cleft lip and palate may be secondary to the effect of yet to be identified teratogens acting on the population at large, or, more likely, to changes in activity and dietary patterns of the population.

Purpose: To evaluate fetal growth parameters throughout gestation in Puerto Rican women and compare them to other mixed U.S. populations., Methods: Cross-sectional study of 548 patients who met inclusion criteria of Puerto Rican ancestry, no history of drug, alcohol or tobacco use, no identifiable fetal anomalies, normal amniotic fluid and certainty of last menstrual period. Standard sonographic biometric data (biparietal diameter, occipito-frontal diameter, head circumference, abdominal circumference, femur length and estimated fetal weight) was obtained for each gestational age between 13 and 38 weeks and the 10th, 50th, and 90th percentile determined for each one. Results were compared to those of other mixed U.S. populations., Results: Biometric data on fetal growth throughout gestation among Puerto Ricans is presented. Comparison with other mixed populations did not show any significant differences in fetal biometric measurements throughout pregnancy., Conclusions: Different to other ethnic groups, Puerto Ricans show similar fetal growth patterns as those reported from mixed U.S. populations. This information validates the use of these reference values in the evaluation of fetuses in Puerto Rico.

Family planning is essential to most prenatal care programs. It is generally believed that maternal age influences the planning of pregnancy with younger patients having higher incidences of unplanned pregnancies. To test this hypothesis we evaluated 470 consecutive cases of pregnant patients regarding pregnancy planning in their current pregnancy. A total of 170 (36.1%) were planned. The incidence of planned pregnancies was evaluated among three age groups and results were as follows: less than 20 years old, 18/60 (30.0%), patients 20 to 29 years old, 105/270 (37%) and more than 29 years old, 47/140 (33.6%). These differences were not statistically significant. Surprisingly, no differences among age groups regarding pregnancy planning were identified in this study.