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G C Cunningham

Publications and source records attributed to G C Cunningham.

At least 37 records · Page 2Linked to original sources

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.

Adult↗

The California Maternal Serum alpha-Fetoprotein Screening Program: the role of ultrasonography in the detection of spina bifida.

Between January 1988 and June 1990, 161 cases of open spina bifida were identified by the California Maternal Serum alpha-Fetoprotein Screening Program. Eight percent of these cases were not diagnosed by an initial ultrasonographic evaluation. Three defects were not recognized until birth. Ultrasonography is inadequate to identify all cases of open spina bifida.

California↗

Distribution of HIV type 1 infection in childbearing women in California.

The incidence of acquired immunodeficiency syndrome (AIDS) is increasing among California heterosexuals and children. To assess human immunodeficiency virus (HIV)-1 infection in childbearing women, we conducted a blinded serosurvey of newborns. Dried blood specimens taken from 99% of California births during the third quarter of 1988 (n = 135,808) and linked only to maternal demographic categories were tested for HIV-1 antibody by enzyme immunoassay and confirmed by Western blot. Period prevalence of HIV-1 infection was 7.4 per 10,000 childbearing women. Prevalence was highest for Black women and was also elevated for Hispanic and San Francisco Bay Area women. Findings suggest that California Hispanic women will make up an increasing proportion of new AIDS cases.

Adult↗

Birth prevalence of primary congenital hypothyroidism by sex and ethnicity.

Over 5 million infants have been screened for primary congenital hypothyroidism in California since 1980. This large number along with the multi-ethnic nature of California's population allows for a detailed analysis of the effects of ethnic origin, sex, and their interaction on birth prevalence. Sex is the most important factor, with at least a 2:1 (female:male) ratio across all major ethnic groups except blacks. The sex ratio among Hispanics is more striking; female cases outnumber male cases by a ratio of 3:1, and the birth prevalence for Hispanic females is 1 in 1886 births. Previously published rates for Asians and blacks are suspect because of small sample sizes, and Hispanic rates also may be misleading if sex is not taken into account. These factors are important when screening tests, such as the serum T4 test, are used as a statistical prescreening before thyroid stimulation hormone levels can be determined and before the influence of ethnic group and sex can be taken into account, because other factors may prevent high-risk groups (such as Hispanic females) from being declared positive.

California↗

Second-trimester maternal serum alpha-fetoprotein levels and the risk of subsequent fetal death.

BACKGROUND: The finding of an elevated level of maternal serum alpha-fetoprotein during the second trimester of pregnancy may indicate that the fetus has died or is about to die. It is uncertain, however, whether the finding is associated with an increased risk of fetal death later in gestation independent of known causes of elevation, such as the presence of neural-tube defects or multiple gestation. METHODS: To address this question, we performed a case-control study of 612 women whose pregnancies ended in fetal death and 2501 women who gave birth to live infants, using reports from California vital statistics for 1987. All the women had signleton pregnancies and alpha-fetoprotein screening in the second trimester. RESULTS: Women with elevated levels of serum alpha-fetoprotein in the second trimester of pregnancy had an increased risk of fetal death, and the risk was increased until term. Women with the highest levels of serum alpha-fetoprotein--greater than or equal to 3.0 times the median value--had a very high risk of fetal death (odds ratio, 10.4; 95 percent confidence interval, 4.9 to 22.0) as compared with women who had normal levels of alpha-fetoprotein. Maternal serum alpha-fetoprotein levels that were 2.0 to 2.9 times the median were also associated with an elevated risk of fetal death (odds ratio, 2.4; 95 percent confidence interval, 1.7 to 3.4). Elevated levels of alpha-fetoprotein were especially likely to be associated with fetal death in cases in which maternal hypertension or placental infarction was also present. CONCLUSIONs. An unexplained elevated level of maternal serum alpha-fetoprotein in the second trimester of pregnancy is associated with an increased risk of subsequent fetal death, up to four to five months after alpha-fetoprotein screening.

Adolescent↗

Vitamins, folic acid and neural tube defects: comments on investigations in the United States.

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.

Female↗

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.

Databases, Factual↗

Genetic heterogeneity in neural tube defects.

In 1985-1987, the authors attempted to ascertain all cases of confirmed neural tube defects (NTD) in California and Illinois, not only among live-born infants (postnatal) but also cases ascertained during pregnancy (prenatal). Mothers of both prenatal and postnatal NTD cases were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had anomalies not ordinarily associated with NTD. The frequency of non-NTD related anomalies was 9.4% (5/53) in anencephaly, 0/3 in craniorachischisis, 22.9% (8/35) in encephalocele, 14.5% (27/186) in spina bifida, 20% (1/5) in multiple NTD cases and 19% (4/21) in other NTDs. However, relatively few postnatal NTD cases had known multiple malformation patterns; Meckel-Gruber syndrome was the most common, with 2 postnatal cases, and 3 additional prenatal cases. Maternal age, paternal age and birth order in postnatal cases were 26.7 +/- 5.4 SD, 28.9 +/- 5.8 and 2.8 +/- 1.8, respectively. These characteristics were similar in prenatal NTD cases (27.9 +/- 6.0, 30.1 +/- 6.3, 2.5 +/- 1.5, respectively). We also found no differences in parental ages among different types of NTD. Frequency of prior spontaneous abortion differed neither between postnatal NTD (9.3%) and postnatal controls (8.1%), nor between prenatal NTD (10.7%) and prenatal control (8.7%). Loss rates in the pregnancy immediately prior to the index NTD cases were not significantly higher than in control subjects. The high frequency of non-NTD associated malformations (14.9%) indicates the caution must be exercised before assuming that a given NTD case is polygenic-multifactorial in etiology, especially cases of encephalocele.

Abnormalities, Multiple↗

Maternal serum alpha-fetoprotein screening activities of state health agencies: a survey.

Maternal serum alpha-fetoprotein (MSAFP) screening has been demonstrated to be cost-effective on a population basis and is becoming standard practice. The American Society of Human Genetics has twice published policy statements to define the essential elements of a quality screening program. The present study reviewed the impact of these policy statements on state public-health agencies with respect to regulation or provision of MSAFP screening in their jurisdictions. With a few exceptions, states have not elected to play a major role in provision or regulation of this test. There is need to address issues of funding, standards, and data collection in a collaborative effort, if policy statements on genetic services are to be translated into effective state population screening.

Congenital Abnormalities↗

The absence of a relation between the periconceptional use of vitamins and neural-tube defects. National Institute of Child Health and Human Development Neural Tube Defects Study Group.

Whether taking multivitamins or folate around the time of conception can reduce a woman's risk of having a child with a neural-tube defect is controversial. To investigate this question, we examined the periconceptional use of vitamin supplements by women who had a conceptus with a neural-tube defect (n = 571), women who had had a stillbirth or a conceptus with another malformation (n = 546), and women who had had a normal conceptus (n = 573). Women with conceptuses with neural-tube defects were identified either prenatally or postnatally and were matched to control mothers for gestational age. To minimize recall bias, we interviewed nearly all the women within five months of the diagnosis of a birth defect or the birth of the infant (mean, 84 days); information on vitamin use was obtained by an interviewer who was unaware of the outcome of pregnancy. The rate of periconceptional multivitamin use among the mothers of infants with neural-tube defects (15.8 percent) was not significantly different from the rate among mothers in either the abnormal or the normal control group (14.1 percent and 15.9 percent, respectively). After adjustment for potential confounding factors, the odds ratio for having an infant with a neural-tube defect among women classified as having had full supplementation with multivitamins was 0.95 as compared with the mothers of the abnormal infants (95 percent confidence interval, 0.78 to 1.14) and 1.00 as compared with the mothers of normal infants (95 percent confidence interval, 0.83 to 1.20). There were no differences among the groups in the use of folate supplements. The adjusted odds ratio for having an infant with a neural-tube defect among those receiving the recommended daily allowance of folate was 0.97 as compared with the mothers of abnormal infants (95 percent confidence interval, 0.79 to 1.18) and 0.98 as compared with the mothers of normal infants (95 percent confidence interval, 0.80 to 1.20). We conclude that the periconceptional use of multivitamins or folate-containing supplements by American women does not decrease the risk of having an infant with a neural-tube defect.

Adult↗

Computer assisted management of a regionalized newborn screening program.

Through the use of an on-line computer system, the regionalized newborn screening program in California has been able to provide overall management, tracking of cases requiring follow-up, laboratory quality control, revenue collection, and the monitoring of program functionality. In addition, the system acts as a tool for research and epidemiological studies.

California↗