The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

Trisomies 21, 18, and 13 are the three most common trisomies among infants who survive to 20 weeks gestation or more. Overall information about birth prevalence, natural history, and mortality for all three trisomies is well defined, but information about ethnic-specific rates is limited. Only a few studies have examined mortality rates of trisomies 18 and 13 because so few cases are liveborn and most have very short life spans. This study assessed ethnic-specific population-based survival probabilities among infants for each trisomy. All cases of trisomies 21, 18, and 13 born in Texas between 1999 and 2003 were obtained from the Texas Birth Defects Registry and included 2,260 cases of trisomy 21, 398 cases of trisomy 18, and 213 cases of trisomy 13. Date and cause of death were obtained from the Texas vital statistics records and the National Death Index. Overall, birth prevalence rates (per 10,000 adjusted live births) for the three trisomies were 11.74 (95% CI: 11.25-12.25), 1.34 (95% CI: 1.18-1.52), 0.92 (95% CI: 0.79-1.07), respectively, and are consistent with previously reported rates. There were no differences in survival rates by ethnicity and the median survival for each trisomy was consistent with previous reports. The results of this study provide comprehensive population-based information for survival of infants with trisomies 21, 18, and 13.

Purpose In the past five years new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni Syndrome. Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to determine how participation in screening impacts individuals psychosocially, to examine the benefits and drawbacks of screening, and to evaluate possible barriers to continued screening. Methods We performed a qualitative study consisting of semi-structured phone interviews conducted from December 2015-February 2016 with 20 individuals attending the LFS screening program at M.D. Anderson Cancer Center. Results Data analysis showed that benefits of screening include early detection, peace of mind, centralized screening, knowledge providing power, and screening making LFS seem more livable. Perceived drawbacks included logistical issues, difficulty navigating the system, screening being draining, and significant negative emotional reactions such as anxiety, fear, and skepticism. Regardless of the emotions that were present, 100% of participants plan on continuing screening in the program. Conclusion Our data indicates that the perceived benefits of screening outweigh the drawbacks of screening. Individuals in this screening program appear to have improved psychosocial well-being because of their access to the screening program.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

Given the complex array of emotional and medical issues that may arise when making a decision about amniocentesis, women may find that their spiritual and/or religious beliefs can comfort and assist their decision-making process. Prior research has suggested that Latinas' spiritual and/or religious beliefs directly influence their amniocentesis decision. A more intimate look into whether Latinas utilize their beliefs during amniocentesis decision-making may provide an opportunity to better understand their experience. The overall goal of this study was to describe the role structured religion and spirituality plays in Latinas' daily lives and to evaluate how religiosity and spirituality influences health care decisions, specifically in prenatal diagnosis. Semi-structured interviews were conducted with eleven women who were invited to describe their religious beliefs and thoughts while considering the option of amniocentesis. All participants acknowledged the influence of religious and/or spiritual beliefs in their everyday lives. Although the women sought comfort and found validation in their beliefs and in their faith in God's will during their amniocentesis decision-making process, results suggest the risk of procedure-related complications played more of a concrete role than their beliefs.

Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline. Geneticists and genetic counselors are often asked what may be appropriate reasons for referral to a genetics service. The Professional Practice and Guidelines Committee of the American College of Medical Genetics has generated lists of the more common reasons for referral and provide them for use by genetics professionals and other healthcare providers for guidance. The lists are divided into pediatric, prenatal, and adult indications. As genetic health professionals, we are frequently asked under what clinical circumstances a genetic consultation is warranted. Although there is a vast array of indications for referral, here are a number of common indications for a genetic office visit. These lists have been divided into pediatric, preconceptional/prenatal, and adult categories for simplicity's sake; findings are paired with consultation objectives. These lists are clearly not intended to be exhaustive or comprehensive, but will hopefully serve as a guide for primary care providers who may have questions about specific clinical circumstances. As the field of genetics expands and genetic technologies uncover new genes and genetic associations on a weekly basis, these lists will quickly become outdated. However, for now, these may help to provide a framework for patient centered specialty referrals (Tables 1-3).

The traditional genetic counseling model encompasses an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance the provision of enough basic genetic information to ensure clients' understanding of the genetic condition in question with a personalized discussion of what this information means to them. This study explored the perceptions Latinas have about prenatal genetic counseling sessions and aimed to determine if they had preferences about the delivery of care. Data were collected through focus groups and one-on-one, semi-structured interviews of 25 Spanish speaking Latinas who received genetic counseling during their current pregnancy. We implemented grounded theory to evaluate participant responses, and were able to identify common emergent themes. Several themes were identified including an overall satisfaction with their prenatal genetic counseling appointment, desire for a healthy baby, peace of mind following their appointment, lack of desire for invasive testing, and faith in God. Several participants stated a preference for group genetic counseling over the traditional individual genetic counseling model. Our data indicate that Latinas value the information presented at prenatal genetic counseling appointments despite disinterest in pursuing genetic testing or screening and suggest that group prenatal genetic counseling may be an effective alternative to the traditional genetic counseling model in the Latina population.

As the Latino population of the United States continues to increase, the specific needs of Latinos in genetic counseling continue to be unmet. Using culturally tailored genetic counseling responsive to the needs of the patient can assist in building rapport in genetic counseling sessions. We aimed to investigate the relationship between acculturation, prenatal care, genetic testing experiences, and expectations for prenatal care in an immigrant Latino population. A total of 20 Spanish‐speaking, pregnant Latinas from various Latin American countries were interviewed after completing a prenatal genetic counseling session. The semi‐structured phone interview included questions about the participants’ experiences with genetic counseling/testing, prenatal health care in their home country, their current prenatal care in the United States, and information they felt to be important to know during their pregnancy. Although this study showed no statistically significant associations between acculturation, prenatal care, and genetic counseling/testing experiences, six significant content domains were identified as relevant to the participants. Overall, we found that immigrant Latinas desire to know prenatal risk information to help them prepare, relieve guilt, and help make screening/testing/family planning decisions. These Latinas reported the genetic counselor provided confidence, a sense of autonomy, and empowerment, for them to make their own decisions regarding prenatal screening/testing. The participants also spoke about stressors unique to the immigrant population, most notably being away from their older children and other family members. Identifying relevant factors about the lived experience of this population can help genetic counselors better address possible needs, feelings of guilt, and/or isolation and identifying women who could benefit from group‐based prenatal care, support groups, or referrals to social work.