Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Purpose: To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States.

Methods: Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) based CS for up to 274 genes. Detection rates were compared with literature-reported values derived from disease prevalence and carrier frequencies.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus. However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence. Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases.

Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.

Purpose: To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13.

Methods: Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that interrogated 19,488 SNPs covering chromosomes 13, 18, 21, X, and Y, and sequenced.

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.

Objective: This study aimed to develop a single-nucleotide polymorphism-based and informatics-based non-invasive prenatal test that detects sex chromosome aneuploidies early in pregnancy.

Methods: Sixteen aneuploid samples, including thirteen 45,X, two 47,XXY, and one 47,XYY, along with 185 euploid controls, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that targeted 19,488 polymorphic loci covering chromosomes 13, 18, 21, X, and Y, and sequenced.

Comparison of chemotherapy education and patient preferences in community versus academic gynecology oncology clinics.

Purpose: To evaluate and compare patients' preferences in receiving chemotherapy education from health care teams in community versus academic clinics.

Methods: Results from a 13-question questionnaire about the chemotherapy education preferences of patients in three community gynecology oncology clinics were compared to the results from a similar study previously conducted in an academic gynecology oncology clinic.

Results: A total of 57% of the 203 community-clinic respondents (116) and 67% of the 282 academic-institution respondents (189) who completed questionnaires had previously received chemotherapy.

Racial-ethnic differences in genetic amniocentesis uptake.

The objective of this study was to determine the role of health beliefs in genetic amniocentesis acceptance in a diverse racial-ethnic population. Participants completed a previously-validated questionnaire consisting of three sections: (1) demographics, (2) amniocentesis knowledge, and (3) health beliefs, which assessed perceived susceptibility, seriousness of potential impact, benefits of testing, and barriers to testing. The results showed that Hispanic women were less likely to accept amniocentesis (51.