Birth Prevalence Of Malformations Research Articles

Lamotrigine and the risk of malformations in pregnancy

The article regarding lamotrigine and the risk for pregnancy malformations by Cunnington et al. provides encouraging information for women with epilepsy and their families1 but their conclusion that “the risk of all major birth defects after first trimester exposure to lamotrigine monotherapy (2.9%) was similar to that in the general population” may be exaggerated. Population comparisons for these estimates are problematic. The authors use as a population comparison data from the Metropolitan Atlanta Congenital Defects Program (MACDP) between 1991 and 1995.2 This population-based registry uses active case identification from multiple sources, undertakes direct chart review of potential cases, and includes all malformations identified through age 5. MACDP reports a malformation prevalence of 3.2%. To provide a better comparison with registry data such as that provided in the report of Cunningham et al., MACDP provides a prevalence of “early diagnoses” of malformations (presumably those readily identifiable at or shortly after birth) of 2.2%. Both of these prevalence rates include children with chromosomal and genetic anomalies—a group appropriately excluded from the Lamotrigine Registry data.1 A more appropriate comparison for birth prevalence of malformations may be that …

CONTEMPORARY EPIDEMIOLOGY OF BLADDER EXSTROPHY IN THE UNITED STATES

Although bladder exstrophy is much discussed in the urology literature, there are few population based epidemiological data available for this rare condition. The purpose of this study was to use a large nationwide database to collect contemporary data on the incidence and demographics of bladder exstrophy. The Healthcare Cost and Utilization Project Nationwide Inpatient Sample is a 20% sample of nonfederal United States hospitals containing data on 5 million to 7 million inpatient stays per year. The sample was limited to newborns, and International Classification of Disease-9 codes were used to identify cases of bladder exstrophy. We then determined nationally weighted incidence through time, and performed multivariate analyses to identify factors associated with exstrophy. We identified 205 patients with exstrophy among 9,452,110 newborns. The overall weighted incidence of exstrophy was 2.15 per 100,000 live births. The male-to-female ratio was almost even (OR 0.989, 95% CI 0.88 to 1.12). White infants were significantly more likely to present with exstrophy than nonwhites (incidence 2.63 vs 1.54 per 100,000, p <0.0001). Exstrophy incidence also varied by geographic region, socioeconomic status (SES) and insurance status. On multivariate analysis the racial variation in exstrophy incidence persisted even after adjustment for geographic region, SES and insurance status. Conditions such as spina bifida, cleft palate, preterm birth and gastrointestinal anomalies were more common in newborns with exstrophy. Bladder exstrophy is rare, occurs in equal numbers of live male and female newborns, and is associated with certain co-morbid conditions. Incidence appears to be stable through time. Nonwhite race, uninsured status, high or low SES and Western geographic region are associated with lower exstrophy incidence.

Timely monthly surveillance of birth prevalence rates of congenital malformations and genetic disorders ascertained by registries or other systematic data bases

In many jurisdictions large data sets on malformations are now collected routinely in order to define prevalence rates of malformations in infants and children, to detect long-term secular trends, and to ascertain cases for ad hoc case-control studies. With slight modifications, these data sets may be used for prompt surveillance of changes in the birth prevalence of malformations, changes that conceivably could be possibly due to the introduction of a teratogen into the environment. A specific logistic approach is suggested, modeled on the New York State Malformation Registry, for prompt detection of changes in rates.

Congenital malformations in Aborigines and non‐Aborigines in Western Australia, 1980–1987 (for editorial comment see page 241)

A comparison of congenital malformations in Aboriginal and non-Aboriginal children in Western Australia has been made by means of data from the WA Congenital Malformations Registry, for births from 1980 to 1987 inclusive. Although the birth prevalence of all malformations was 3.5% for both Aboriginal and non-Aboriginal infants, significant differences were found in the birth prevalence of some individual malformations. Nervous-system and cardiovascular defects, and cleft lip and palate were significantly more prevalent in Aborigines, and pyloric stenosis and urogenital defects were significantly less prevalent. While some of the observed differences may have been a result of biases in ascertainment, others are likely to represent true differences. A discussion of Aboriginal beliefs concerning conception and birth is included, in order that the quantitative findings from the study might be considered in an appropriate cultural setting.