Journal Article•
Congenital malformations in twins.
About: This article is published in American Journal of Human Genetics.The article was published on 1970-11-01 and is currently open access. It has received 177 citations till now. The article focuses on the topics: Anencephaly.
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TL;DR: The finding of both discordant and concordant MZ twins with Goldenhar, de Lange, and Rubinstein-Taybi syndromes suggests that these "syndromes" might be early malformation complexes.
490 citations
TL;DR: Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects.
Abstract: There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "lumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects.
327 citations
TL;DR: Multiple vascular connections with vein-to-vein anastomosis appear as the most important associated factor for antenatal necrosis of the cerebral white matter in this population of twins and triplets.
251 citations
TL;DR: Monochorionicity increases the risk of adverse perinatal outcome, whereas the effect of zygosity is less clear and should be considered in the prenatal care of twin pregnancies.
211 citations
TL;DR: The main features of published studies pointing out their strengths and limitations are described and insight is given into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.
Abstract: Nonsyndromic oral clefts are among the most common birth defects, affecting approximately 1 in 1000 Caucasian newborns. In recent decades, many investigators have used genetic and epidemiologic methods to identify etiologic factors, but results have often been inconclusive or contradictory. Etiologic heterogeneity is undoubtedly a major component in these birth defects, and there may not be a single answer to this problem. Here, we describe the main features of published studies pointing out their strengths and limitations. Additionally, we give insight into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.
186 citations