Patients with unexplained mismatch repair deficiency are interested in updated genetic testing.

Background: Individuals who have colorectal or endometrial cancers displaying loss of immunohistochemical staining of one or more mismatch repair proteins without an identifiable causative germline pathogenic variant have unexplained mismatch repair deficiency (UMMRD). Comprehensive germline genetic testing for Lynch syndrome (LS) includes sequencing and deletion/duplication analysis of and , deletion analysis of , and inversion analysis. Updated genetic testing to include elements of comprehensive LS testing not previously completed could further clarify LS status in individuals with UMMRD, allowing for tailored screening guidelines for affected individuals and their family members.

Exploring experiences and expectations of prenatal health care and genetic counseling/testing in immigrant Latinas.

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.

Somatic mismatch repair testing in evaluation of Lynch syndrome: The gap between preferred and current practices.

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome primarily defined by increased risk for colorectal and uterine cancers. Individuals with germline pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, and PMS2) are diagnosed with LS and recommended high-risk screening protocols to increase prevention and early detection of LS-related cancers. Tumor testing can help identify those at high risk for LS, but sometimes creates uncertainty with discordant screening and germline results, or unexplained mismatch repair deficiency (UMMRD).

Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications.

The introduction of cell-free DNA screening, or non-invasive prenatal testing (NIPT), for chromosome abnormalities has greatly impacted prenatal care since its introduction in late 2011. We aimed to evaluate the association between the introduction of cell-free DNA screening and indication and referral patterns for genetic counseling at a large US academic medical center by comparing the percentage of each counseling indication between the time period prior to the introduction of cell-free DNA screening (2006-2011) and following its introduction (2012-2016) using multivariable Poisson regression models. Genetic counseling indications for positive carrier screens, average risk patients, abnormal ultrasound findings, and family history indications were significantly higher following the introduction of NIPT while advanced maternal age and abnormal maternal serum screening indications dropped significantly.

The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers.

Objective: We evaluated what prenatal genetic counselor's (GCs) practices, attitudes, and barriers are in regards to prenatal microarray since the publication of the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) guidelines for microarray use.

Methods: This was a survey-based cross-sectional study of English-speaking, board certified or eligible GCs who currently practice prenatal genetic counseling.

Results: Of 192 respondents, 183 (95%) have incorporated chromosome microarray (CMA) into clinical practice, with 64% believing that the benefits of CMA outweigh the harms and 52% agreeing that CMA should be offered to all women regardless of indication.

Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.

Identifying genetic diagnoses for neurologic conditions with a considerable hereditary component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to providing proper medical management for patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors.

National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.

The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992 and was later revised and adopted in 2006. In 2016, the NSGC Code of Ethics Review Task Force (COERTF) was convened to review the COE. The COERTF reviewed ethical codes written by other professional organizations and suggested changes that would better reflect the current and evolving nature of the genetic counseling profession.

Evaluating the NCCN Clinical Criteria for Recommending and Genetic Testing in Patients With Breast Cancer.

Mutations in the and genes predispose individuals to a significantly elevated risk for breast and ovarian cancers. Identification of these individuals allows for proper screening, management, and testing of at-risk relatives. NCCN has established clinical criteria for recommending testing.

First Neonatal Demise with Travel-Associated Zika Virus Infection in the United States of America.

Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation.

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.

Purpose: In the past 5 years, new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni syndrome (LFS). 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.

Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care.

Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1).

Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

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.

Perceptions of Latinas on the Traditional Prenatal Genetic Counseling Model.

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.

Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair-deficient tumors.

Purpose: Mismatch repair-deficient (MMRD) colorectal cancer (CRC) and endometrial cancer (EC) may be suggestive of Lynch syndrome (LS). LS can be confirmed only by positive germ-line testing. It is unclear if individuals with MMRD tumors but no identifiable cause (MMRD+/germ-line-) have LS.

Influence of anchoring on miscarriage risk perception associated with amniocentesis.

One factor women consider when deciding whether to pursue amniocentesis is the risk of miscarriage. People use mechanisms like anchoring, or the prior belief regarding the magnitude of risk, as a frame of reference for new information. This study aimed to determine a woman's perception of miscarriage risk associated with amniocentesis before and after genetic counseling and to determine what factors anchor a woman's perception of miscarriage risk.

Exploring the role of religiosity and spirituality in amniocentesis decision-making among Latinas.

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.

Survival of Texas infants born with trisomies 21, 18, and 13.

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.

Fetal trisomy 21 and the risk of preeclampsia.

Objective: Microchimerism has been investigated as a possible contributor to the pathophysiology of preeclampsia. Although trisomy 21 is associated with pronounced microchimerism, it has not been connected with an increased risk of preeclampsia. Our objective was to readdress the relationship between preeclampsia and trisomy 21 in a large population.

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.

Purpose: To assess the effectiveness of an educational module as a tool for improving the knowledge of pediatric residents about newborn screening and its expansion in Texas.

Methods: The study population consisted of 63 pediatric residents from the University of Texas at Houston, Baylor College of Medicine in Houston, and the University of Texas Medical Branch in Galveston. Residents were invited to participate in the study during daily scheduled didactic lectures in their respective residency programs.

Indications for genetic referral: a guide for healthcare providers.

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.

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

We report on the clinical and cytogenetic findings in a newborn with a de novo isochromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm.