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. METHODS: A total of 3223 prenatal samples undergoing CMA were evaluated. Cases were categorized into 2 groups: those that met ACOG guidelines for CMA versus those that met ACOG guidelines for either CMA or karyotype. RESULTS: Of the 3223 cases, 1475 (45.8%) met ACOG recommendations for CMA, and 1748 (54.2%) met recommendations for either CMA or karyotype. In patients who could have elected either CMA or karyotype, 2.5% had CSCA that would have been missed if the patient had elected to pursue karyotype. CONCLUSION: This study suggests that 2.5% of patients will have a CSCA that may be missed if the guidelines continue to suggest that CMA and karyotyping have equivalent diagnostic value for patients without a fetal structural abnormality.

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. This included both fresh (76.4%) and FFPE samples (22.4%), most of which were ascertained for recurrent pregnancy loss and/or spontaneous abortion (83%). The majority of samples were evaluated by a whole-genome single-nucleotide polymorphism (SNP)-based array (81.6%); the remaining samples were evaluated by array-comparative genomic hybridization (CGH). RESULTS: A successful result was obtained in 7,396 of 8,118 (91.1%), with 92.4% of fresh tissue samples and 86.4% of FFPE samples successfully analyzed. Clinically significant abnormalities were identified in 53.7% of specimens (3,975 of 7,396), 94% of which were considered causative. CONCLUSION: Analysis of POC specimens by karyotyping fails in 20-40% of cases. SNP-based CMA is a robust platform, with successful results obtained in >90% of cases. SNP-based CMA can identify aneuploidy, polyploidy, whole-genome homozygosity, segmental genomic imbalances, and maternal cell contamination, thus maximizing sensitivity and decreasing false-negative results. Understanding the etiology of fetal loss enables clarification of recurrence risk and assists in determining appropriate management for future family planning.Genet Med 19 1, 83-89.

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

PURPOSE: 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. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population.Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not "approve" or "endorse" any specific methods, practices, or sources of information.

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. Transcripts were analyzed using thematic coding, and acculturation level was assessed using a validated measure. The results indicate that (1) Women of all acculturation levels valued Western medical care in pregnancy and had a good understanding of common public health messages; (2) Perceived benefits of and reasons for engaging in cultural health practices varied by acculturation level; and (3) Motivation for sharing cultural health practices with children also varied by acculturation level. Consequently, acculturation level is an important factor to consider in culturally competent genetic counseling, including eliciting cultural information relevant to counseling and decision-making and identifying barriers to effective, culturally sensitive communication.

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. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

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. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

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. RESULTS: The patient population (n = 1,519) was 27.8% white, 25% Hispanic, 22.5% black, 20.5% Asian, and 4.3% other. Physician race/ethnicity was 47.8% white, 28.8% Asian, 14.4% Hispanic, and 9% black. Patient race/ethnicity and physician race/ethnicity were correlated (contingency coefficient = 0.54, P < 0.001). White and Asian patients were more likely to select obstetricians of their own racial background (72.7% and 66.6%) than were Hispanic or black patients (36% and 24.6%, P < 0.001). Patients of all races were more likely to be under the care of a physician of their own race than of a different race. CONCLUSIONS: In an urban community with a racially diverse population, there is a strong racial bias in patient selection of an obstetrician.

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. The T-test, correlation matrix, Kruskal-Wallis test, and multiple logistic regression were used for analysis; a probability value of <.05 was considered significant. RESULTS: One hundred twenty-one women were enrolled: 19.3% reported no pain, 42.9% described the pain as mild, 31.1% described the pain as discomforting, and 6.7% described the pain as distressing or horrible. Mean intensity of pain was 1.6+/-1.3 (on a scale of 0-7). Pain was most often described as sharp, cramping, fearful, and stabbing. Anxiety and pain were increased in women with an indication of abnormal serum screen as compared with women with advanced maternal age. Anxiety and a history of menstrual cramps were associated with increased affective dimensions of pain and had moderate correlation with quantified pain intensity. A history of previous amniocentesis and needle insertion in the lower one third of the uterus were associated with increased pain. Maternal weight, parity, previous surgery, fibroid tumors, and depth of needle insertion were not correlated with perceived pain. Presence or absence of an accompanying person was not associated with pain intensity. CONCLUSION: Women report mild pain or discomfort with genetic amniocentesis. Increased pain is associated with increased maternal anxiety, a history of menstrual cramps, a previous amniocentesis, and insertion of the needle in the lower uterus.

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. METHODS: The educational program was piloted with patient and health care provider focus groups. After incorporating modifications suggested by the focus groups, 103 patients and 94 health care providers (HCPs) from community health clinics in Harris County, Tex., were recruited to participate in the study. Changes in knowledge were measured through the use of pre- and postseminar questionnaires. RESULTS: The program identified various misconceptions about breast cancer in representative groups of patients and HCPs. Comparison of pre- and post-test scores indicated that both groups made significant gains in knowledge about breast cancer and breast cancer screening. Participant evaluations indicated that the seminar was informative and interesting. Both patients and HCPs agreed that the cost of breast cancer screening and the lack of sufficient bilingual HCPs were 'major' barriers to obtaining breast cancer screening, but had differing opinions regarding other potential barriers. CONCLUSIONS: We have developed an effective method of education about breast cancer risk factors and screening for two groups: Hispanic women of lower educational and socioeconomic levels, and the HCPs who serve them. Based on the successful reception of our program, we propose extending it to other areas of Texas with demographics similar to those of the study population.