PubMed · 426458
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G C Scrimshaw. 1979. Semantic inaccuracy and honesty.. https://doi.org/10.1097/00000637-197902000-00001
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BACKGROUND: The risk of recurrent neural-tube defects is decreased in women who take folic acid or multivitamins containing such during the periconceptional period. The extent to which folic acid supplementation can reduce the first occurrence of defects is not known. METHODS: We conducted a randomized, controlled trial of periconceptional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects. Women planning a pregnancy (in most cases their first) were randomly assigned to receive a single tablet of a vitamin supplement (containing 12 vitamins, including 0.8 mg of folic acid; 4 minerals; and 3 trace elements) or a trace-element supplement (containing copper, manganese, zinc, and a very low dose of vitamin C) daily for at least one month before conception and until the date of the second missed menstrual period or later. RESULTS: Pregnancy was confirmed in 4753 women. The outcome of the pregnancy (whether the fetus or infant had a neural-tube defect or congenital malformation) was known in 2104 women who received the vitamin supplement and in 2052 who received the trace-element supplement. Congenital malformations were significantly more prevalent in the group receiving the trace-element supplement than in the vitamin-supplement group (22.9 per 1000 vs. 13.3 per 1000, P = 0.02). There were six cases of neural-tube defects in the group receiving the trace-element supplement, as compared with none in the vitamin-supplement group (P = 0.029). The prevalence of cleft lip with or without cleft palate was not reduced by periconceptional vitamin supplementation. CONCLUSIONS: Periconceptional vitamin use decreases the incidence of a first occurrence of neural-tube defects.
The Danish Register of Congenital Malformations at the National Board of Health is used for surveillance and research. More than 10% of all patients registered have oral cleft diagnoses. This report evaluates the completeness of the Register of Congenital Malformations as regards registration of oral cleft patients born in Denmark in the period 1983-1987. The register is limited to congenital anomalies diagnosed in hospitals in the child's first year of life. The investigation shows, that the register is suitable for surveillance of clefts, because the completeness of registration was constant during the five-year period 1983-1987. The completeness was more than 90% of all known cases, and probably higher for severe clefts and cases with associated anomalies. Identical diagnosis was found in 93% of all patients registered in The Register of Congenital Malformations with at least one other source of ascertainment. In addition, the investigation disclosed misclassification of a small oral-cleft-subgroup and the need for an additional diagnosis in the coding. The register can only be used for surveillance and research in congenital anomalies, which are usually diagnosed in the child's first year of life.
We performed a genetic analysis of 331 non-syndromic cleft lip with or without cleft palate (CL +/- P) proband families ascertained in Madras, India. Predictions of the multifactorial threshold (MF/T) model are tested; goodness-of-fit tests of the MF/T model and complex segregation analysis are also utilized to clarify the genetic etiology of CL +/- P in this study population. There was little evidence for the MF/T model. The most reasonable conclusion from mixed model analysis is that of a major locus with reduced transmission probability. This is not altogether surprising if manifestation of CL +/- P also depends on in utero exposure to harmful environmental agents during the critical period of facial development, as suggested by Melnick et al. [1980] and demonstrated in an animal model of CL +/- P [Melnick et al., 1981]. Further the results in the Madras population are quite similar to those in other populations of Europe and Asia.