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.
In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature. Recently, the PSTF (now called the Pedigree Standardization Work Group or PSWG) sought evidence that the published symbols met the needs of health professionals, were incorporated into health professional training and were utilized in publications. We searched PubMed and reference lists of select publications, reviewed the Instructions for Authors of several journals, searched the websites of professional societies, sought comment from the membership of the NSGC, and looked at recommendations and training practices of various health professional organizations. Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature. We did not find significant objections or alternatives to the 1995 nomenclature. Based on our review, we propose only a few minor stylistic changes to the pedigree symbols. The pedigree nomenclature of the NSGC is the only consistently acknowledged standard for drawing a family health history. We recommend regular and continued review of these pedigree standards to determine if additional symbols are needed to accommodate changes in clinical practice to ensure that the symbols continue to meet the needs of health professionals and researchers as well as adhere to evolving ethical and privacy standards. All health professionals, trainees, and researchers should be made aware of the utility of using a common pedigree nomenclature in clinical practice and publication. This will become particularly important as electronic medical records become more widely utilized.
AAURA permits improved individual counselling regarding the risk of fetal Down's syndrome following a second-trimester sonogram. For low-risk women under age 35 years, ultrasound assessment can identify over half of the affected fetuses with Down's syndrome with an acceptable false-positive rate (4%). For women aged 35-39 years, a normal ultrasound can substantially reduce the risk of unnecessary amniocentesis (12.5% from 100%) but will also miss approximately one-third of affected fetuses. Biochemical screening of maternal serum is also suggested for this group. Based on their high a priori risk, women aged 40 years or more should consider genetic amniocentesis regardless of a normal ultrasound.
Clinical outcomes of 95 second-trimester fetuses prospectively considered to have echogenic bowel at ultrasound were compared with a control group of 110 consecutive second-trimester fetuses. Among the 95 fetuses in the study group, 64 (67%) had moderately echogenic (grade 2) or markedly echogenic (grade 3) bowel relative to the liver. Among the 110 fetuses in the control group, only two (1.8%) had moderately echogenic (grade 2) bowel; the rest (98.2%) had isoechoic (grade 0) or midly echogenic (grade 1) bowel relative to the liver. Adverse outcomes occurred in 45 of the 95 fetuses (47%) with echogenic bowel compared with eight of the 110 fetuses (7.27%) in the control group (P < .01; relative risk, 6.5; 95% confidence interval, 3.2, 13.1). Adverse outcomes included chromosomal abnormalities, intrauterine growth retardation, fetal demise, or other fetal anomalies. Within the study group, adverse outcomes occurred in 40 of the 64 fetuses (62%) with grade 2 or 3 bowel echogenicity, compared with five of the 31 fetuses (16%) with grade 1 echogenicity. Echogenic bowel is associated with an increased risk of adverse fetal outcome and this risk is confined primarily to grades 2 and 3 echogenicity.
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