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1.
Arq Neuropsiquiatr ; 79(7): 612-623, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34468500

RESUMO

BACKGROUND: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. OBJECTIVE: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. METHODS: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. RESULTS: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). CONCLUSIONS: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil's population had not been considered.


Assuntos
Doença de Parkinson , Brasil , Europa (Continente) , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Mutação , Doença de Parkinson/genética
3.
Am J Nurs ; 121(9): 11, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34438410

RESUMO

Health care providers remain ill prepared to recognize these conditions and support patients and their families.


Assuntos
Cuidadores/psicologia , Aconselhamento Genético/psicologia , Relações Profissional-Família , Aberrações dos Cromossomos Sexuais , Conscientização , Criança , Humanos , Cromossomos Sexuais
4.
Mymensingh Med J ; 30(3): 881-895, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34226484

RESUMO

Retinoblastoma is the most common primary intraocular tumor with an incidence of 1: 16,000 to 18,000 live birth and represents 11% of cancer that develop in the first year of life. Retinoblastoma may be unilateral (60%) or bilateral (40%). Bilateral cases always heritable and median age of diagnosis is 1 year. Unilateral cases are mostly non heritable but 15% can be heritable and median age of presentation is 2 years. All children with heritable form carry mutation in RB1 gene. Though most frequent symptoms during diagnosis are leucocoria and strabismus, can present as most severe form in under developed countries. Diagnosis is made by fundus examination. Ultrasonography and imaging (CT, MRI) contribute both in diagnosis and assessment of extension of diseases. The aim of treatment is to save the child first, followed by globe and vision salvage. Treatment depends on laterality, size, location and extent of tumor. The main prognosis depends on early detection of tumor and treating the child by multidisciplinary team approach. Due to advancement in treatment modalities for the last two decade the survival rate of retinoblastoma has increased. But long term follow up is mandatory for retinoblastoma survivor as there is risk for development of second cancers in later life. Proper genetic screening and genetic counseling can help parents and patients in their adulthood to understand the disease properly.


Assuntos
Neoplasias da Retina , Retinoblastoma , Adulto , Criança , Pré-Escolar , Aconselhamento Genético , Humanos , Lactente , Mutação , Prognóstico , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/epidemiologia , Neoplasias da Retina/genética , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiologia , Retinoblastoma/genética
6.
Genes (Basel) ; 12(6)2021 06 20.
Artigo em Inglês | MEDLINE | ID: mdl-34202935

RESUMO

Genetic testing is increasingly part of routine clinical care. However, testing decisions may be characterized by regret as findings also implicate blood relatives. It is not known if genetic testing decisions are affected by the way information is presented (i.e., framing effects). We employed a randomized factorial design to examine framing effects on hypothetical genetic testing scenarios (common, life-threatening disease and rare, life-altering disease). Participants (n = 1012) received one of six decision frames: choice, default (n = 2; opt-in, opt-out), or enhanced choice (n = 3, based on the Theory of Planned Behavior). We compared testing decision, satisfaction, regret, and decision cognitions across decision frames and between scenarios. Participants randomized to 'choice' were least likely to opt for genetic testing compared with default and enhanced choice frames (78% vs. 83-91%, p < 0.05). Neither satisfaction nor regret differed across frames. Perceived autonomy (behavioral control) predicted satisfaction (B = 0.085, p < 0.001) while lack of control predicted regret (B = 0.346, p < 0.001). Opting for genetic testing did not differ between disease scenarios (p = 0.23). Results suggest framing can nudge individuals towards opting for genetic testing. These findings have important implications for individual self-determination in the genomic era. Similarities between scenarios with disparate disease trajectories point to possible modular approaches for web-based decisional support.


Assuntos
Comportamento de Escolha , Aconselhamento Genético/psicologia , Testes Genéticos , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Hipogonadismo/genética , Preferência do Paciente , Adulto , Feminino , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/psicologia , Masculino , Pessoa de Meia-Idade , Educação de Pacientes como Assunto
7.
Cytogenet Genome Res ; 161(5): 236-242, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34274931

RESUMO

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.


Assuntos
Pontos de Quebra do Cromossomo , Cromotripsia , Rearranjo Gênico , Genoma Humano , Diagnóstico Pré-Natal/métodos , Aborto Eugênico , Adulto , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA , Feminino , Feto , Aconselhamento Genético/ética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem/métodos , Masculino , Gravidez
8.
Crit Rev Oncol Hematol ; 164: 103425, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34245855

RESUMO

Melanoma is considered the most lethal skin cancer and its incidence has increased during the past decades. About 10 % of cases are classified as hereditary melanoma. Genetic predisposition usually manifests itself clinically as early onset and multiple cutaneous melanomas. Several genes have been identified as involved to melanoma susceptibility, some of them still with unknown clinical relevance. Beyond melanoma, the affected families are also more prone to develop other malignancies, such as pancreatic cancer. The identification of risk families and involved genes is of great importance, since different forms of oncological surveillance are recommended. However, well established guidelines to standardize both the selection of individuals and the genetic panel to be requested are still lacking. Given the importance of the genetic counseling and testing in the context of clinical suspicion of hereditary melanoma, this paper aims to review the literature regarding genetic panel indications worldwide.


Assuntos
Melanoma , Síndromes Neoplásicas Hereditárias , Neoplasias Pancreáticas , Neoplasias Cutâneas , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Melanoma/diagnóstico , Melanoma/epidemiologia , Melanoma/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/genética
9.
Urol Clin North Am ; 48(3): 297-309, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34210486

RESUMO

Germline genetic testing for prostate cancer (PC) is increasingly important as the clinical utility of germline variants in this patient population is understood better. To better characterize the clinical landscape of germline testing in PC, published clinical cohorts of PC who underwent clinical germline genetic analysis at point of care are reviewed. Limitations and heterogeneity of these cohorts are highlighted and pathogenic results with established or potential clinical utility in PC noted. The need for additional germline genetic studies is underscored, because the number of PC patients studied lags greatly behind the high prevalence of the disease.


Assuntos
Predisposição Genética para Doença , Testes Genéticos/métodos , Neoplasias da Próstata/genética , Progressão da Doença , Aconselhamento Genético , Mutação em Linhagem Germinativa , Humanos , Masculino , Neoplasias da Próstata/etnologia
10.
Urol Clin North Am ; 48(3): 311-322, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34210487

RESUMO

Germline testing for prostate cancer (PCA) is revolutionizing PCA care. Two PARP inhibitors are FDA approved for men with metastatic, castration-resistant disease after progression on first-line therapies. In the screening setting, genetic test results may inform initiation and screening strategies. For men with early-stage disease, literature is emerging on the possible role of germline testing in active surveillance discussions. As such, urologists and oncologists must gain working knowledge of the principles and practice of germline testing and hereditary cancer implications for responsible implementation. Here the authors outline key learning areas and practice strategies for responsible dissemination of PCA germline testing.


Assuntos
Testes Genéticos/normas , Fidelidade a Diretrizes , Pessoal de Saúde/educação , Neoplasias da Próstata/genética , Aconselhamento Genético , Mutação em Linhagem Germinativa , Humanos , Consentimento Livre e Esclarecido , Masculino , Medicina de Precisão
11.
Urol Clin North Am ; 48(3): 323-337, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34210488

RESUMO

Germline genetic testing is becoming more prevalent in urology clinics because of precision medicine for prostate cancer treatment. Genetic testing results can also influence cancer screening discussions for patients and/or their families. An important part of germline genetic testing is genetic counseling. This article provides an overview of the historical aspects of genetic counseling, discusses the components needed to provide proper genetic counseling, summarizes genes related to hereditary prostate cancer risk, and reviews genetic privacy and genetic discrimination concerns related to germline genetic testing.


Assuntos
Aconselhamento Genético , Predisposição Genética para Doença , Neoplasias da Próstata/genética , Saúde da Família , Testes Genéticos , Humanos , Masculino , Medicina de Precisão
12.
Int J Mol Sci ; 22(13)2021 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-34281261

RESUMO

Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs are caused by mutations in >250 genes. Variants in the RPE65 gene account for 0.6-6% of RP and 3-16% of LCA/EORD cases. Voretigene neparvovec is a gene therapy approved for the treatment of patients with an autosomal recessive retinal dystrophy due to confirmed biallelic RPE65 variants (RPE65-IRDs). Therefore, the accurate molecular diagnosis of RPE65-IRDs is crucial to identify 'actionable' genotypes-i.e., genotypes that may benefit from the treatment-and is an integral part of patient management. To date, hundreds of RPE65 variants have been identified, some of which are classified as pathogenic or likely pathogenic, while the significance of others is yet to be established. In this review, we provide an overview of the genetic diagnostic workup needed to select patients that could be eligible for voretigene neparvovec treatment. Careful clinical characterization of patients by multidisciplinary teams of experts, combined with the availability of next-generation sequencing approaches, can accelerate patients' access to available therapeutic options.


Assuntos
Oftalmopatias Hereditárias/genética , Doenças Retinianas/genética , cis-trans-Isomerases/genética , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/terapia , Aconselhamento Genético , Testes Genéticos/métodos , Terapia Genética , Variação Genética , Genótipo , Humanos , Mutação , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia
13.
J Genet ; 1002021.
Artigo em Inglês | MEDLINE | ID: mdl-34282736

RESUMO

Congenital heart defects (CHD) affect 50% of Down's syndrome (DS) cases. This review focusses on the pathogenic molecular mechanism leading to the formation of DS-associated CHD along with the advancement of the emerging diagnostic techniques available for such patients in past few decades. We have shed light on the causative genes of DS-associated CHD that are located either on chromosome 21 or outside chromosome 21. Along with locus-specific mutation, numerous SNP and CNV, miRNA, use of maternal folic acid during pregnancy and signalling pathways are also reported to contribute to the formation of CHD in patients with DS. With the help of both these our understanding of pathogenic mechanism causing CHD in DS cases along with the availability of emerging technologies has facilitated a novel discovery that has ultimately provided a better treatment and management for such cases. Accurate diagnosis and treatment are now available with the introduction of CNV detection and NGS based approaches such as WES, WGS, target sequencing and sequencing of foetal cell-free DNA by the medical geneticist and cardiologist have now allowed further identification of familial recurrence risk and relatives who are at risk through genetic counselling, thereby providing reproductive options and improving proper care of DS-associated CHD. Further, gene-editing studies explore novel pathogenic mechanisms and signalling pathways in DS-associated CHD.


Assuntos
Síndrome de Down/diagnóstico , Aconselhamento Genético , Cardiopatias Congênitas/diagnóstico , Síndrome de Down/complicações , Síndrome de Down/genética , Síndrome de Down/patologia , Feminino , Ácido Fólico/genética , Ácido Fólico/metabolismo , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/genética , Humanos , MicroRNAs/genética , Gravidez
14.
Afr J Reprod Health ; 25(s1): 36-49, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34077143

RESUMO

Hearing loss affects many people worldwide, and it hinders speech, language, and social development. Consanguineous marriage is the most prevalent social custom that leads to an increased prevalence of congenital anomalies. Premarital Counseling and Genetic Screening (PMSGC) educational program is urgently needed to empower deaf and hard hearing girls. This study aimed to investigate the effect of educational intervention based on the empowerment model on deaf and hard hearing females' self-efficacy, knowledge, and attitude toward PMSGC. A Quasi-experimental research design was conducted on 64 deaf and hard hearing female students. The data collection instrument comprised four parts: basic data and personal/family history, PMSGC quiz, Likert attitude scale, and general self-efficacy scale. Data were collected from September to December 2020. The empowerment educational intervention was conducted in four sequential phases; needs assessment, planning, implementation, and evaluation. The intervention addressed the students' knowledge, attitudes and self-efficacy. The results showed that 76.6% of the study participants had consanguineous marriage between their parents, 64.1% had a history of hereditary deafness in first-degree relatives. There were statistically significant differences between the total knowledge, attitude, and self-efficacy before and after intervention (p <0.001). In detail, 76.6% of the participants had good knowledge after the intervention compared to only 12.5% before it. Besides, 81.3% of the study participants had a positive attitude toward PMSGC before the intervention compared to 95.3% after it. Self-efficacy was low (25.0%) or moderate (75%) before the intervention compared to moderate (45.3%) or high (42.2%) after the intervention. Educational intervention based on the empowerment model significantly increased the deaf and hard hearing population's self-efficacy, knowledge, and attitude toward PMSGC. The use of the empowerment model in health education should be encouraged and taught to the medical and paramedical students.


Assuntos
Surdez , Aconselhamento Genético , Educação em Saúde/organização & administração , Conhecimentos, Atitudes e Prática em Saúde , Perda Auditiva , Pessoas com Deficiência Auditiva/psicologia , Exames Pré-Nupciais , Adulto , Atitude Frente a Saúde , Surdez/diagnóstico , Surdez/genética , Empoderamento , Feminino , Testes Genéticos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Humanos , Autoeficácia , Inquéritos e Questionários
15.
Einstein (Sao Paulo) ; 19: eAO5708, 2021.
Artigo em Inglês, Português | MEDLINE | ID: mdl-34133642

RESUMO

OBJECTIVE: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. METHODS: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. RESULTS: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. CONCLUSION: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.


Assuntos
Aconselhamento Genético , Encaminhamento e Consulta , Adulto , Brasil , Humanos , Assistência ao Paciente , Política
16.
BMC Health Serv Res ; 21(1): 542, 2021 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-34078380

RESUMO

BACKGROUND: Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. METHODS: We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. DISCUSSION: BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. TRIAL REGISTRATION: BRIDGE is registered as NCT03985852 . The trial was registered on June 6, 2019 at clinicaltrials.gov .


Assuntos
Aconselhamento Genético , Neoplasias , Criança , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Neoplasias/genética , Neoplasias/terapia , New York , Gravidez , Atenção Primária à Saúde
17.
Int J Mol Sci ; 22(11)2021 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-34073611

RESUMO

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.


Assuntos
Aconselhamento Genético , Doenças Genéticas Inatas , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Diagnóstico Pré-Natal , Doenças Retinianas , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Humanos , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética
18.
Eur J Paediatr Neurol ; 32: 128-135, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33971557

RESUMO

Genetic testing and counselling are increasingly important in epilepsy care, aiming at finding a diagnosis, understanding aetiology and improving treatment and outcome. The psychological impact of genetic counselling from patients' or parents' perspectives is, however, unknown. We studied the counselee-reported outcome of genetic counselling before and after genetic testing for epilepsy by evaluating empowerment - a key outcome goal of counselling reflecting cognitive, decisional and behavioural control, emotional regulation and hope - and anxiety. We asked patients or their parents (for those <16 years or intellectually disabled) referred for genetic testing for epilepsy in two university hospitals between June 2014 and 2017 to complete the same two questionnaires at three timepoints: before and after pre-test counselling and after post-test counselling. Empowerment was measured with the Genetic Counselling Outcome Scale (GCOS-18); anxiety with the short State Trait Anxiety Inventory (STAI-6). A total of 63 participants (55 parents with the age of 29-66 years; 8 patients with the age of 21-42 years) were included in our study. Empowerment significantly increased during the genetic counselling trajectory with a medium effect size (p < 0.001, d = 0.57). A small but significant increase in empowerment was already seen after pre-test counselling (p = 0.038, d = 0.29). Anxiety did not change significantly during the counselling trajectory (p = 0.223, d = -0.24). Our study highlights that patients with epilepsy or their parents show a clinically relevant increase in empowerment after genetic counselling. Empowerment was already increased after pre-test counselling, suggesting the importance of counselling before initiating genetic testing for epilepsy. However, individual differences in changes in empowerment and anxiety were seen, suggesting that counselling could be further improved, based on individual needs.


Assuntos
Ansiedade/psicologia , Epilepsia/psicologia , Aconselhamento Genético/psicologia , Participação do Paciente/psicologia , Adulto , Idoso , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Pais/psicologia , Participação do Paciente/métodos , Inquéritos e Questionários , Adulto Jovem
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(5): 450-453, 2021 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-33974253

RESUMO

OBJECTIVE: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions. METHODS: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations. RESULTS: The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up. CONCLUSION: Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.


Assuntos
Variações do Número de Cópias de DNA , Síndrome do Cromossomo X Frágil , Feminino , Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genética , Aconselhamento Genético , Humanos , Mutação , Gravidez , Expansão das Repetições de Trinucleotídeos , Repetições de Trinucleotídeos
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(5): 485-487, 2021 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-33974262

RESUMO

OBJECTIVE: To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform. METHODS: A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided. RESULTS: For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion. CONCLUSION: Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.


Assuntos
Distrofia Muscular de Duchenne , Feminino , Triagem de Portadores Genéticos , Aconselhamento Genético , Testes Genéticos , Humanos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Gravidez , Diagnóstico Pré-Natal
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