Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity.

This study presents race/ethnicity-specific prevalence estimates of neural tube defects (NTDs) in California using 5 years of population-based data. NTD prevalence estimates include prenatally diagnosed cases, as well as cases diagnosed at birth. The California NTD Registry contains NTD case reports identified through the California Maternal Serum Alpha-Feto Protein (AFP) Screening Program, the California Birth Defects Monitoring Program, and additional reports from clinicians and clinics throughout the state. These data were used to estimate NTD prevalence in a large population-based study (n = 1,618,279). The overall NTD prevalence among White, Black, Hispanic, and Asian women are reported, as well as race/ethnic prevalence, for anencephaly, spina bifida, and encephalocele. Rates are expressed as the number of cases per 1,000 women screened between 1990 and 1994. Among 1,457 women with an NTD-affected pregnancy, the overall rate for anencephaly, spina bifida, and encephalocele was 0.49 (95% CI 0.46-0.53), 0.42 (95% CI 0.38-0.45), and 0.08 (95% CI 0.07-0.09), respectively. When these types of NTDs are combined, Hispanic women had the highest overall rate (1.12, 95% CI 1.04-1.21), followed by Whites (0.96, 95% CI 0.89-1.04), Blacks (0.75, 95% CI 0.59-0.91), and Asians (0.75, 95% CI 0.60-0.90). Hispanic women were 45% more likely than White women to have a pregnancy affected with anencephaly (odds ratio = 1.45, 95% CI 1.24-1.70), while Asian women were over two times less likely to have a pregnancy affected with spina bifida (odds ratio = 0.44, 95% CI 0.29-0.65). Considerable variation exists in the prevalence of NTDs by race/ethnicity and by type of NTD, with Hispanic women exhibiting the highest overall NTD rate.

Prenatal genetic services: toward a national data base.

PIP: The availability of prenatal genetic services in the US was assessed in a 1990-91 survey. Prenatal screening services are offered in 46 of 51 states, and 47 states have prenatal counseling and diagnostic services available. Comprehensive national and regional data collection and reporting for prenatal genetic services has been conducted by the Council of Regional Networks for Genetic Services (CORN) in cooperation with the 10 regional genetic services networks since 1985. The results of CORN data collection on prenatal genetic services in 1989 and 1990 are presented. A 60% participation rate was achieved in 1989 for the more than 400 reporting units. In 1990, 227 of the 302 prenatal-clinical genetic reporting units contacted (75%) were able to supply data. 135 (92%) of the 146 laboratory reporting units provided data. In 1989, data were collected on more than 124,000 prenatal patients, accounting for almost 303,000 individual prenatal clinical services, including counseling and medical procedures, such as ultrasonography, amniocentesis, and chorionic villus sampling. Almost 920,000 laboratory tests, including blood studies, amniotic fluid tests, and chorionic tissue tests were performed in 1989 by a laboratory of the reporting unit. The 1990 figures indicated 12-30% increased in patients and reported services. 73% of prenatal genetic patients were white; below the percentage of white women aged 15-54 years nationally. The percentages of patients of Asian Pacific Islander ancestry and of other races were higher than in the national figures for women of reproductive age. Advanced maternal age continued to be the leading reason for referral to prenatal genetic services, although the percentage has decreased from 1989 to 1990. The percentage of patients for whom indication for service was unknown more than tripled between 1989 and 1990. CORN has made significant progress toward the development of a national system of reporting genetic services.^ieng

Providers and consumers of prenatal genetic testing services: what do the national data tell us?

Prenatal genetic services are currently available in all but a few states. The Council of Regional Networks for Genetic Services (CORN) has developed and implemented a data collection project to collect a minimum data set (MDS) on genetic services, including prenatal services, throughout the US. More than 400 reporting units were solicited for data in 1989, and approximately 240 (60%) responded. The CORN MDS Report for 1989 shows that more than 124,000 prenatal patients received services in the reporting centers. These individuals received almost 303,000 individual prenatal clinical services and accounted for more than 481,000 laboratory tests. Advanced maternal age was the primary indication for service in the vast majority of patients (62%). Based on data from the two major proficiency testing programs for laboratories performing screening tests for maternal serum alpha-fetoprotein (MSAFP), it is estimated that 50% of the pregnancies in the US are screened for MSAFP. The CORN database provides the only data available for the rapidly expanding area of genetic services. Therefore, it provides a unique resource for evaluating progress toward the Healthy People 2000 objectives regarding genetic services.

Development of a national genetic services database.

The Council of Regional Networks for Genetics Services (CORN) designed and developed a database collection project to collect minimum data regarding genetic services provided throughout the United States. The data collection project has been designed to improve the provision of services and to determine areas of utilization.