The California Prenatal Screening Program: "options and choices" not "coercion and eugenics".

The California Prenatal Screening Program is designed to make prenatal screening available to the state's large and diverse population. The Program provides information to women which will allow them to make informed choices regarding prenatal screening and prenatal diagnosis. Since the Program's inception in 1986, women in California have had the option to participate in prenatal screening or to decline prenatal screening. The California Program offers prenatal diagnostic services to women whose screening tests indicate an increased risk for birth defects, including Down syndrome. Women can decline any or all of these follow-up services. Genetic counseling, diagnostic services, and the presentation of diagnostic results are performed by medical professionals (not State staff) who follow established guidelines for nondirective counseling. Program data clearly demonstrate that women in California have a wide range of options and make a wide range of choices regarding prenatal screening and prenatal diagnosis. California's comprehensive Prenatal Screening Program promotes optimal care for all women within all options and choices. The important and necessary communication among organizations and stakeholders involved in prenatal screening and diagnosis, and in related care for pregnant women and for people with Down syndrome, is not served by misrepresentation and inflammatory rhetoric.

Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process.

BACKGROUND: Succinylacetone (SUAC), a specific marker for tyrosinemia type I (Tyr I) cannot be detected by the routine LC-MS/MS screening of amino acids (AA) and acylcarnitines (AC) in newborns. The current derivatized methods require double extraction of newborn dried blood spots (DBS); one for AA and AC and the second for SUAC from the blood spot left after the first extraction. We have developed a method in which AA, AC and SUAC are extracted in a single extraction resulting in significant reduction in labor and assay time. METHODS: The 3.2 mm DBS were extracted by incubating at 45 °C for 45 min with 100 µl of acetonitrile (ACN)-water-formic acid mixture containing hydrazine and stable-isotope labeled internal standards of AA, AC and SUAC. The extract was derivatized with n-butanolic-HCl and analyzed by LC-MS/MS. RESULTS: The average inter-assay CVs for, AA, AC and SUAC were 10.1, 10.8 and 7.1% respectively. The extraction of analytes with ACN-water mixture showed no significant difference in their recovery compared to commonly used solvent MeOH. The concentration of hydrazine had considerable impact on SUAC extraction. CONCLUSION: We developed a new MS/MS derivatized method to detect AA/AC/SUAC in a single extraction process for screening Tyr I along with disorders of AA and AC.

Miscarriage risk from amniocentesis performed for abnormal maternal serum screening.

OBJECTIVE: The purpose of this study was to evaluate miscarriage after mid-trimester amniocentesis for abnormal maternal serum screening. STUDY DESIGN: An analysis of summary data from the California State maternal serum screening program on 32,050 women with an abnormal serum screen, a singleton fetus, and normal ultrasound was performed. Miscarriage before 24 weeks, days until miscarriage, gestational age at miscarriage, and maternal factors were compared. The power of this study could detect a 50% increase in miscarriage. RESULTS: The miscarriage rate with amniocentesis, 0.46% (69/15,005), was no different than without, 0.53% (90/17,045), P = .38. There was no difference in maternal age, serum biochemical factors, gestational age at miscarriage (21.1 weeks for both groups), or days until miscarriage (23 after amniocentesis and 20.4 without). Log-rank test revealed no difference for gestational age at miscarriage (P = .61) or number of days until miscarriage (P = .40). CONCLUSION: The rate and timing of miscarriage was similar with or without amniocentesis in California women with abnormal maternal serum screening.

Thyroid function and perchlorate in drinking water: an evaluation among California newborns, 1998.

Perchlorate (ClO4-) has been detected in groundwater sources in numerous communities in California and other parts of the United States, raising concerns about potential impacts on health. For California communities where ClO4- was tested in 1997 and 1998, we evaluated the prevalence of primary congenital hypothyroidism (PCH) and high thyroid-stimulating hormone (TSH) levels among the 342,257 California newborns screened in 1998. We compared thyroid function results among newborns from 24 communities with average ClO4- concentrations in drinking water>5 microg/L (n=50,326) to newborns from 287 communities with average concentrations5 microg/L were observed, with 20.4 expected [adjusted prevalence odds ratio (POR)=0.71; 95% confidence interval (CI), 0.40-1.19]. Although only 36% of all California newborns were screened before 24 hr of age in 1998, nearly 80% of newborns with high TSH were screened before 24 hr of age. Because of the physiologic postnatal surge of TSH, the results for newborns screened before 24 hr were uninformative for assessing an environmental impact. For newborns screened>or=24 hr, the adjusted POR for high TSH was 0.73 (95% CI, 0.40-1.23). All adjusted odds ratios (ORs) were controlled for sex, ethnicity, birth weight, and multiple birth status. Using an assessment of ClO4- in drinking water based on available data, we did not observe an association between estimated average ClO4- concentrations>5 microg/L in drinking water supplies and the prevalence of clinically diagnosed PCH or high TSH concentrations.

Primary congenital hypothyroidism, newborn thyroid function, and environmental perchlorate exposure among residents of a Southern California community.

The objectives of this study were to evaluate whether there were higher rates of primary congenital hypothyroidism (PCH) or elevated concentrations of thyroid-stimulating hormone (TSH) in a community where perchlorate was detected in groundwater wells. The adjusted PCH prevalence ratio and 95% confidence interval (CI) comparing the study community to San Bernardino and Riverside counties combined was 0.45 (95% CI=0.06-1.64). The odds ratios for elevated TSH concentration were 1.24 (95% CI=0.89-1.68) among all newborns screened and 0.69 (95% CI=0.27-1.45) for newborns whose age at screening was 18 hours or greater. Age of the newborn at time of screening was the most important predictor of the TSH level. These findings suggest that residence in a community with potential perchlorate exposure has not impacted PCH rates or newborn thyroid function.