ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Objective: The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities. For patients who elect prenatal diagnosis and have a structurally normal fetus, either microarray or karyotype is recommended. This study evaluates the frequency of clinically significant chromosomal abnormalities (CSCA) that would have been missed if all patients offered the choice between CMA and karyotyping chose karyotyping.

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.

Purpose: Chromosomal microarray analysis (CMA) is currently considered first-tier testing in pediatric care and prenatal diagnosis owing to its high diagnostic sensitivity for chromosomal imbalances. The aim of this study was to determine the efficacy and diagnostic power of CMA in both fresh and formalin-fixed paraffin-embedded (FFPE) samples of products of conception (POCs).

Methods: Over a 44-month period, 8,118 consecutive samples were received by our laboratory for CMA analysis.

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options.

Concurrent use of cultural health practices and Western medicine during pregnancy: exploring the Mexican experience in the United States.

The relationship between concurrent use of cultural health practices and Western medicine during pregnancy by women of Mexican origin is relatively unstudied. The aim of this study was to explore how cultural health practices are balanced with the use of Western medicine during pregnancy by women of Mexican origin across differing acculturation levels. A convenience sample of 15 women of self-identified Mexican origin between the ages of 18-65 participated either in a telephone interview or one of two small group interviews; each was conducted in participants' preferred language.

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation.

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research.

Racial bias in patient selection of an obstetrician.

Objective: The objective of this study was to determine racial bias in patient selection of an obstetrician.

Methods: Obstetrical patients referred for genetic counseling at a community hospital were included. Self-reported patient race/ethnicity were compared with obstetrician's race/ethnicity.

Clinical correlates of pain with amniocentesis.

Objective: The purpose of this study was to determine whether sensory or affective dimensions of pain with genetic amniocentesis are associated with identifiable clinical correlates.

Study Design: Women completed the short-form McGill Pain Questionnaire after second-trimester genetic amniocentesis. The effect of maternal weight, parity, previous amniocentesis, previous surgery, history of menstrual cramps, maternal anxiety, presence of fibroid tumors, and depth and location of needle insertion on pain intensity was determined.

Knowledge and attitudes of Hispanic women and their health care providers about breast cancer risk factors and screening.

Objectives: The purpose of our study was to develop and evaluate an educational program for health care providers and patients on the topics of general breast cancer risk factors, breast cancer genetics, and breast cancer screening recommendations. The program was designed with specific emphasis on addressing the needs of medically underserved Hispanic women in Southern Texas. We also identified and compared perceptions of potential barriers to breast cancer screening.