RESUMEN
Throughout all areas of medical practice, genetic counselors (GCs) occupy a key position in promoting patients' personal autonomy while facilitating informed medical decision-making. This professional position aligns with the concept of reproductive justice. Previous literature has attempted to define reproductive advocacy in medicine as well as the potential intersection of genetic counseling and reproductive justice advocacy work, yet limited data exist regarding GCs' perceptions of their role and involvement in reproductive justice advocacy work. This study aimed to identify the perceptions and actions of GCs regarding reproductive justice advocacy measures, as well as explore motivating factors influencing their attitudes and behaviors. Family planning providers, who tend to prioritize reproductive justice and advocacy, were surveyed to be a comparison group. We distributed an anonymous online survey within the National Society of Genetic Counselors (NSGC) and the Society of Family Planning (SFP) consisting of a 10-item personality inventory and Likert scale questions exploring characteristics and behaviors regarding reproductive justice advocacy. Results from 252 eligible respondents were analyzed using descriptive statistics, Chi-square, and Mann-Whitney U analyses. NSGC members are significantly less involved in several areas of reproductive justice advocacy, including regular participation in advocacy efforts when compared to SFP members (p = 0.04). The most cited barrier to NSGC members' participation was feeling unsure how to become involved, a significant difference compared to SFP members (p = 0.01). Findings from this study, undertaken in the final days of Roe v. Wade, suggest that GCs want to be more involved in reproductive justice advocacy but are uncertain where to begin. Intersociety collaboration and intra-society promotion of grassroots reproductive justice efforts may reduce this perceived barrier and others like it.
RESUMEN
Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge of ancestry for optimal test selection and appropriate risk assessment, ECS panels consist of tens to hundreds of AR and XL conditions that may be individually rare in various ancestries but offer a comprehensive approach to inherited disease screening. As such, the term "equitable carrier screening" may be preferable. This practice guideline provides evidence-based recommendations for ECS using the GRADE Evidence to Decision framework (Guyatt et al., BMJ, 2008, 336, 995; Guyatt et al., BMJ, 2008, 336, 924). We used evidence from a recent systematic evidence review (Ramdaney et al., Genetics in Medicine, 2022, 20, 374) and compiled data from peer-reviewed literature, scientific meetings, and clinical experience. We defined and prioritized the outcomes of informed consent, change in reproductive plans, yield in identification of at-risk carrier pairs/pregnancies, perceived barriers to ECS, amount of provider time spent, healthcare costs, frequency of severely/profoundly affected offspring, incidental findings, uncertain findings, patient satisfaction, and provider attitudes. Despite the recognized barriers to implementation and change in management strategies, this analysis supported implementation of ECS for these outcomes. Based upon the current level of evidence, we recommend ECS be made available for all individuals considering reproduction and all pregnant reproductive pairs, as ECS presents an ethnicity-based carrier screening alternative which does not rely on race-based medicine. The final decision to pursue carrier screening should be directed by shared decision-making, which takes into account specific features of patients as well as their preferences and values. As a periconceptional reproductive risk assessment tool, ECS is superior compared to ethnicity-based carrier screening in that it both identifies more carriers of AR and XL conditions as well as eliminates a single race-based medical practice. ECS should be offered to all who are currently pregnant, considering pregnancy, or might otherwise biologically contribute to pregnancy. Barriers to the broad implementation of and access to ECS should be identified and addressed so that test performance for carrier screening will not depend on social constructs such as race.
Asunto(s)
Consejeros , Asesoramiento Genético , Embarazo , Femenino , Humanos , Niño , Tamización de Portadores Genéticos , Reproducción , SociedadesRESUMEN
OBJECTIVE: Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity. METHODS: A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered. RESULTS: Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P < .00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%. CONCLUSION: Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.
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Síndrome de Down , Embarazo , Femenino , Humanos , Síndrome de Down/diagnóstico por imagen , Primer Trimestre del Embarazo , Hueso Nasal/diagnóstico por imagen , Ultrasonografía Prenatal , Estudios Retrospectivos , Medida de Translucencia NucalRESUMEN
Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene. Expanded carrier screening (ECS), inclusive of ALPL, intends to inform reproductive risk but may incidentally reveal an HPP diagnosis with 50% familial risks. We sought to investigate at-risk individuals and develop a multidisciplinary referral and evaluation protocol for ECS-identified ALPL heterozygosity. A retrospective database query of ECS results from 8 years to 1 month for heterozygous pathogenic/likely pathogenic ALPL variants was completed. We implemented a clinical protocol for diagnostic testing and imaging, counseling, and interdisciplinary care management for identified patients, and outcomes were documented. Heterozygous ALPL variants were identified in 12/2248 unrelated patients undergoing ECS (0.53%; heterozygote frequency 1/187). Of 10 individuals successfully contacted, all demonstrated symptomatology and/or alkaline phosphatase values consistent with HPP. ECS may reveal incidental health risks, including recognition of missed HPP diagnoses in ALPL heterozygotes. In our cohort, all ECS-identified ALPL heterozygotes with clinical and/or biochemical data available demonstrated features of HPP. Referral to a genetics professional familiar with HPP is indicated for family history assessment, genetic counseling, cascade testing, and long-term bone health management.
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Fosfatasa Alcalina , Hipofosfatasia , Humanos , Fosfatasa Alcalina/genética , Heterocigoto , Mutación , Estudios Retrospectivos , Hipofosfatasia/diagnóstico , Hipofosfatasia/genéticaRESUMEN
Genetic counselors (GCs) play an important role in providing and coordinating care for patients considering abortion care secondary to fetal anomaly and/or genetic diagnosis. In the United States, restrictive legislation reducing access to abortion has increased dramatically in recent years. In Texas, an unusual vigilante-style law went into effect in September 2021, effectively banning all abortion after 6-week gestation; this more restrictive legislation was widely seen as a harbinger of things to come. To assess the impact of evolving abortion restrictions on genetic counseling practice and patient care, we conducted semistructured interviews with 34 GCs practicing in states characterized as hostile to abortion using standards developed by the Guttmacher Institute and analyzed using Dedoose software. All interviews took place prior to the June 2022 Supreme Court decision overturning Roe v. Wade. Our qualitative study offered some support for earlier work, suggesting that time pressure created by gestational age limits and the potential need for patients to travel out of state for abortion care was the most significant impact on GC practice. However, GCs practicing in Texas and other highly restrictive states were more likely to report that legal uncertainty had a greater impact, often affecting their ability to counsel patients. GCs in Texas also emphasized that institutional guidance was helpful and that a lack of institutional guidance hindered patient care. With the Supreme Court decision in June 2022 overturning the right to abortion established under Roe v. Wade, many more GCs are likely to practice in states where abortion is restricted or banned. Our study suggests that impediments to counseling may be underappreciated in the changing landscape of abortion law.
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Aborto Inducido , Asesoramiento Genético , Femenino , Embarazo , Estados Unidos , Humanos , Aborto Legal , Decisiones de la Corte Suprema , TexasRESUMEN
Legal, institutional, and payer policies regulating reproductive health care lack a shared language with medicine, resulting in great confusion and consternation. This paper critically examines the implications and ramifications of unclear language related to abortion care. Using a case-based approach, we highlight the ways in which language and terminology may affect the quality and accessibility of care. We also address repercussions for providers and patients within their team, institutional, state, and payer landscapes. In particular, we explore the stigmatization of abortion as both a word and a process, the role of caregivers as gatekeepers, the implications of viability as a limit for access, and the hierarchy of deservedness and value. Recognizing the role of language in these discussions is critical to building systems that honor the complexities of patient-centered reproductive decision-making, ensure access to comprehensive reproductive health care including abortion, and center patient autonomy. Healthcare providers are uniquely positioned to facilitate institutional, state, and national landscapes in which pregnant patients are supported in their autonomy and provided with just and equitable reproductive health care.
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Aborto Inducido , Perinatología , Embarazo , Femenino , Humanos , Lenguaje , Calidad de la Atención de Salud , Aborto LegalRESUMEN
Following a collaborative workshop at the 39th Annual Pregnancy Meeting, the Society for Maternal-Fetal Medicine Reproductive Health Advisory Group identified a need to assess the attitudes of maternal-fetal medicine subspecialists about abortion services and the available resources at the local and regional levels. The purpose of this study was to identify trends in attitudes, beliefs, and behaviors of practicing maternal-fetal medicine subspecialists in the United States regarding abortion. An online survey was distributed to associate and regular members of the Society for Maternal-Fetal Medicine to assess their personal training experience, abortion practice patterns, factors that influence their decision to provide abortion care, and their responses to a series of scenarios about high-risk maternal or fetal medical conditions. Frequencies were analyzed and univariable and multivariable analyses were conducted on the survey responses. Of the 2751 members contacted, 546 Society for Maternal-Fetal Medicine members completed all (448 of 546, 82.1%) or some (98 of 546, 17.9%) of the survey. More than 80% of the respondents reported availability of abortion services in their state, 70% reported availability at their primary institution, and 44% reported provision as part of their personal medical practice. Ease of referral to family planning subspecialists or other abortion providers, institutional restrictions, and the lack of training or continuing education were identified as the most significant factors contributing to the respondents' limited scope of abortion services or lack of any abortion services offered. In the univariable analysis, exposure to formal family planning training programs, fewer years since the completion of residency, current practice setting not being religiously affiliated, and current state categorized as supportive by the Guttmacher Institute's abortion policy landscape were factors associated with abortion provision (all P values <.01). After controlling for these factors in a multivariable regression, exposure to formal family planning training programs was no longer associated with current abortion provision (P=.20; adjusted odds ratio, 1.34; 95% confidence interval, 0.85-2.10), whereas a favorable state policy environment and fewer years since the completion of residency remained associated with abortion provision. The results of this survey suggest that factors at the individual, institutional, and state levels affect the provision of abortion care by maternal-fetal medicine subspecialists. The subspecialty of maternal-fetal medicine should be active in ensuring adequate training and education to create a community of maternal-fetal medicine physicians able to provide comprehensive reproductive healthcare services.
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Aborto Inducido/educación , Aborto Inducido/estadística & datos numéricos , Actitud del Personal de Salud , Perinatología/educación , Aborto Inducido/métodos , Servicios de Planificación Familiar , Femenino , Humanos , Internado y Residencia/estadística & datos numéricos , Masculino , Pautas de la Práctica en Medicina , Embarazo , Derivación y Consulta , Servicios de Salud Reproductiva , Sociedades Médicas , Encuestas y Cuestionarios , Estados UnidosRESUMEN
Early pregnancy renal anhydramios (EPRA) comprises congenital renal disease that results in fetal anhydramnios by 22 weeks of gestation. It occurs in over 1 in 2000 pregnancies and affects 1500 families in the US annually. EPRA was historically considered universally fatal due to associated pulmonary hypoplasia and neonatal respiratory failure. There are several etiologies of fetal renal failure that result in EPRA including bilateral renal agenesis, cystic kidney disease, and lower urinary tract obstruction. Appropriate sonographic evaluation is required to arrive at the appropriate urogenital diagnosis and to identify additional anomalies that allude to a specific genetic diagnosis. Genetic evaluation variably includes karyotype, microarray, targeted gene testing, panels, or whole exome sequencing depending on presentation. Patients receiving a fetal diagnosis of EPRA should be offered management options of pregnancy termination or perinatal palliative care, with the option of serial amnioinfusion therapy offered on a research basis. Preliminary data from case reports demonstrate an association between serial amnioinfusion therapy and short-term postnatal survival of EPRA, with excellent respiratory function in the neonatal period. A multicenter trial, the renal anhydramnios fetal therapy (RAFT) trial, is underway. We sought to review the initial diagnosis ultrasound findings, genetic etiologies, and current management options for EPRA.
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Anomalías Múltiples/diagnóstico por imagen , Anomalías Congénitas/diagnóstico por imagen , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales/congénito , Riñón/anomalías , Enfermedades Pulmonares/diagnóstico por imagen , Pulmón/anomalías , Oligohidramnios/diagnóstico por imagen , Obstrucción Ureteral/diagnóstico por imagen , Obstrucción Uretral/diagnóstico por imagen , Anomalías Múltiples/etiología , Aborto Inducido , Líquido Amniótico , Ensayos Clínicos como Asunto , Femenino , Humanos , Infusiones Parenterales , Riñón/diagnóstico por imagen , Enfermedades Renales/complicaciones , Enfermedades Renales/diagnóstico por imagen , Enfermedades Renales Quísticas/complicaciones , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares/etiología , Oligohidramnios/etiología , Oligohidramnios/terapia , Cuidados Paliativos , Embarazo , Insuficiencia Renal , Ultrasonografía Prenatal , Obstrucción Ureteral/complicaciones , Obstrucción Uretral/complicacionesRESUMEN
OBJECTIVE: We sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions. STUDY DESIGN: We examined a prospective cohort series of fetal pleural effusions visualized sonographically between 1 April 2016 and 31 August 2017. Fetal pleural effusions attributed to twin sharing, anemia, or structural anomalies were excluded, as were all cases with a genetic diagnosis established by karyotype or chromosomal microarray analysis. The remaining cases with pleural effusions of unclear etiology were offered ES. ES was performed by clinical sequencing and/or sequencing under the Baylor-Hopkins Center for Mendelian Genomics' (BHCMG) research platform. All cases were evaluated for novel genes or phenotypic expansion of disease-causing genes. RESULTS: ES was performed on six probands affected by pleural effusions. A pathogenic variant was identified in one case (16.7%). Four additional cases had variants of uncertain significance (VUS) in candidate genes of pathological interest. Neither clinical nor candidate genes were evident in the final case. CONCLUSION: ES should be considered in the evaluation of prenatally detected idiopathic pleural effusions when other diagnostic workup for a genetic etiology has failed.
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Secuenciación del Exoma , Enfermedades Fetales/genética , Derrame Pleural/genética , Actinina/genética , Moléculas de Adhesión Celular/genética , Estudios de Cohortes , Proteínas de la Matriz Extracelular/genética , Pestañas/anomalías , Femenino , Enfermedades Fetales/diagnóstico por imagen , Factores de Transcripción Forkhead/genética , Humanos , Linfedema/diagnóstico , Linfedema/genética , Derrame Pleural/diagnóstico por imagen , Embarazo , Estudios Prospectivos , Receptor EphB4/genética , Canal Liberador de Calcio Receptor de Rianodina/genéticaRESUMEN
All patients should be offered prenatal screening and diagnosis. Testing options depend on many factors, including patient age, family history, and patient preference. Options are rapidly changing with emerging technology. Aneuploidy screening options include ultrasound, maternal analytes, and cell-free DNA. Prenatal chromosomal microarray is the recommended diagnostic test for patients with anomalies visualized on prenatal ultrasound. Prenatal whole exome sequencing is clinically available but is limited by challenges with counseling, interpretation, and turn-around time. Future technologies are emerging and may soon allow for translation of prenatal diagnosis to in utero therapy.
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Enfermedades Genéticas Congénitas/diagnóstico , Pruebas Genéticas/métodos , Diagnóstico Prenatal/métodos , Femenino , Feto , Humanos , EmbarazoAsunto(s)
Antibióticos Antineoplásicos/uso terapéutico , Enfermedades Fetales/tratamiento farmacológico , Neoplasias Cardíacas/tratamiento farmacológico , Rabdomioma/tratamiento farmacológico , Sirolimus/uso terapéutico , Administración Oral , Progresión de la Enfermedad , Ecocardiografía , Femenino , Corazón Fetal/diagnóstico por imagen , Neoplasias Cardíacas/genética , Humanos , Lactante , Embarazo , Rabdomioma/genética , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Ultrasonografía PrenatalRESUMEN
Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p < 0.001). Conversely, when no religious/spiritual terms were present, the counselor felt uncertain about the importance of R/S 63 % of the time. However, 67 % of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93 % reported using positive religious coping. Less than 25 % reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.