Detection rate of quadruple‐marker screening determined by clinical follow‐up and registry data in the statewide California program, July 2007 to February 2009

Abstract

The DR for trisomy 21 in California's statewide quadruple-marker screening is very similar to the Program's previously reported DR using triple-marker screening. However, this was achieved at a lower SPR, demonstrating improved screening performance.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening

“…Women who underwent screening in the second trimester only were not included in our cohort, because these results have been previously reported. 3,4 Screen-positive interpretation qualified women for follow-up services at a state-approved Prenatal Diagnostic Center. Follow-up services include genetic counseling and diagnostic services such as chorionic villus sampling, second-trimester ultrasonography, and amniocentesis.…”

“…2 Detection rates for second-trimester screening in California have been previously reported. 3,4 This report summarizes outcomes for women who underwent first-trimester or sequential (first-and secondtrimester) screening. We estimate current detection and screen-positive rates for the target aneuploidies (trisomies 21 and 18) as well as nontargeted chromosomal abnormalities.…”

Risk of critical congenital heart defects by nuchal translucency norms

“…All sources are mandated by California law to report diagnosed chromosomal abnormalities (whether diagnosed by karyotype or microarray) to the program. [20][21][22][23][24] Information on CCHDs was collected by the linkage of screening records with all hospital discharge records through 1 year of age for each study infant (wherein records were linked with the use of multiple identifiers [baby and mother date of birth; baby first and last name; mother first, last, and maiden name, address, phone number, and hospital of baby birth]). These records include all inpatient discharge information that is submitted to the state each time a patient is treated in a licensed general acute care hospital in California and includes all diagnoses present at the time of discharge based on 4-or 5-digit codes from the Ninth Revision of the International Classification of Diseases.…”

Association of early-preterm birth with abnormal levels of routinely collected first- and second-trimester biomarkers

“…Cases and controls were also restricted to pregnancies with a linked newborn screening record (indicating a live birth between 20 and 44 completed weeks of gestation) without any history of diabetes or smoking, and without chromosomal or neural tube defects (NTDs) in registries maintained by GDSP. 30 We identified 643 case pregnancies that had resulted in early preterm birth between 22 weeks, 0 days and 29 weeks, 6 days and 83,039 control pregnancies with births at or after 37 completed weeks. The final case determination was made after linkage of the case group to the CPQCC dataset.…”