The utility of nuchal translucency ultrasound in identifying rare chromosomal abnormalities not detectable by cell-free DNA screening.

Objective:: To evaluate the utility of nuchal translucency (NT) screening in the detection of rare chromosomal aneuploidies in the setting of cell-free DNA (cfDNA).

Methods:: A retrospective cohort study of pregnancies screened through the California Prenatal Screening Program between March 2009 and December 2012. Karyotype analysis was the primary method of chromosomal evaluation during the study period and abnormal chromosomal karyotype results were classified by whether the abnormality would be detectable by cfDNA (non-mosaic trisomy 13, 18, 21 or sex-chromosomal aneuploidy (SCA)).

Observed Rate of Down Syndrome in Twin Pregnancies.

Objective: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach.

Methods: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included.

Racial-ethnic differences in midtrimester maternal serum levels of angiogenic and antiangiogenic factors.

Background: Little is known about racial-ethnic differences in the distribution of maternal serum levels of angiogenic and antiangiogenic factors and their associations with early-onset preeclampsia.

Objective: We sought to investigate the distribution of midtrimester maternal serum levels of placental growth factor, soluble endoglin, and soluble vascular endothelial growth factor receptor 1 and their associations with early-onset preeclampsia in whites, Hispanics, and blacks.

Study Design: A population-based nested case-control design was used to identify cases and controls of white, Hispanic, and black origin from a 2000 through 2007 live-birth cohort in 5 southern California counties.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Objective: To estimate detection rates for aneuploidy by first-trimester and sequential screening.

Methods: The study included women with singleton pregnancies who participated in the California Prenatal Screening Program with estimated delivery dates from August 2009 to December 2012 who had first- or first- and second-trimester (sequential) screening. Detection rates were measured for target (trisomies 21 and 18) and other aneuploidies identified from the California Chromosome Defect Registry.

Risk of critical congenital heart defects by nuchal translucency norms.

Objective: The purpose of this study was to compare the performance of first-trimester nuchal translucency (NT) cutoff of ≥3.5 mm with NT percentiles that were calculated for crown-rump length to identify fetuses with critical congenital heart defects (CCHDs).

Study Design: This was a population-level study of singleton pregnancies in California with NT measurements performed between 11 and 14 weeks of gestation.

Risk of selected structural abnormalities in infants after increased nuchal translucency measurement.

Objective: We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants.

Study Design: Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.

Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results.

Objective: To assess the risk of adverse obstetric, perinatal, and fetal outcomes for pregnant women participating in prenatal sequential integrated screening through the California Prenatal Screening Program who had a false-positive screening result.

Methods: Women who underwent first- and second-trimester prenatal integrated screening plus nuchal translucency measurement with outcome information available were included. Fetuses and neonates with chromosomal or neural tube defects were excluded.

Integrated and first trimester prenatal screening in California: program implementation and patient choice for follow-up services.

Objectives: The California Prenatal Screening Program serves over 350,000 women annually. This study examines utilization rates for the various screening options and patient choices regarding follow-up services.

Methods: The study tracked patients with first trimester positive results for Down syndrome to examine patient decisions regarding follow-up services and/or additional screening and to identify determinants of patient decisions.

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.

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

Objective: To evaluate the efficiency of California's quadruple-marker screening program and construct receiver-operating characteristic (ROC) curves.

Methods: This study included the screening records of 552 941 women during July 2007 to February 2009. The screen-positive women received clinical follow-up services at state-approved centers.