Chromosome abnormalities and genetic counseling pdf

 

    This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of . Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. PDF | On Aug 1, , Karen Brondum-Nielsen and others published Chromosome Abnormalities and Genetic Counselling.

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    Chromosome Abnormalities And Genetic Counseling Pdf

    Chromosome abnormalities and genetic counseling Get a printable copy (PDF file) of the complete article (K), or click on a page image below to browse. PDF. Book Review. Chromosome abnormalities and genetic counseling, 3rd edn. Free resource for counselling for families with chromosome abnormalities. Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics): Medicine & Health Science Books.

    Family history of sudden cardiac death before the age of 50 Familial coronary artery disease Congenital heart disease What benefit does a cardiovascular genetic counselor provide to my patients? A cardiovascular genetic counselor takes a complete family history, identifies who in the family is at risk for an inherited cardiovascular disease and discusses screening, prevention, and medical management options for those individuals. A cardiovascular genetic counseloralso facilitates the genetic testing process by identifying the most informative family member to test, assessing the most useful genetic test for a patient and their family, interpreting the results, and helping the family and their physicians apply the results to the family's care. Genetic counselors help families with hereditary heart conditions deal with many of the personal aspects of having an inherited condition in the family, such as decisions about reproductive options and family planning as well as adjusting emotionally to having or being at risk for a hereditary heart condition. They can also facilitate referrals to long-term resources such as community agencies, advocacy groups, and other families with the same condition. What evidence is there to recommend or support genetic counseling in cardiovascular genetics?

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    Vascular Surgery. Dentist Undergraduate Dentist. Qualified Dentist. A counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family. Cystic Fibrosis Genetics What is cystic fibrosis genetics? Referral to a CF genetic counselor is appropriate for a wide range of indications.

    Referral for preconception or prenatal genetic counseling regarding CF carrier testing is indicated for couples who are at increased risk based on family history or ethnic background. Genetic counseling in these cases may also include discussion of prenatal testing options for CF.

    Families of infants with a positive newborn screen for CF are recommended to meet with a genetic counselor as part of the evaluation process. In addition, genetic counseling can be beneficial for any patient with a known or suspected diagnosis of CF, CRMS, or another CFTR-related spectrum disorder, as well as for family members of these individuals. Identification and referral of patients who may be at risk for these conditions can come from a diverse range of specialties; for example, a male patient being evaluated for possible genetic causes of infertility may be referred to a CF genetic counselor.

    Genetic counselors interpret this information in the context of the patient's medical and family history information as well as results of various CF-related screening and diagnostic tests to provide patients with accurate risk assessment.

    Genetic counselors can facilitate the genetic testing process for patients and their family members. Genetic counselors also provide psychosocial counseling to address individual issues and concerns that arise as part of this process. CF care teams can utilize and integrate genetic counselors into their comprehensive teams.

    In addition to providing the services described above, genetic counselors are able to keep up to date on new mutation-specific treatments and trials that are available for CF patients such as VX, VX, etc. All of the US states and many other countries have implemented newborn screening for CF, and most states include a DNA testing component as part of their newborn screening algorithm.

    The implications of a positive newborn screen for CF and the issues surrounding the follow-up evaluation and diagnostic process can be complex, and genetic counselors can work with patients and their families to inform them about the significance of the newborn screen result. In addition, a positive newborn screen for CF often comes as a surprise to parents, who may have little to no prior familiarity with CF.

    A CF genetic counselor is able to address the emotional and psychosocial issues that arise through this process. What evidence is there to recommend or support genetic counseling in CF genetics? A number of professional organizations have endorsed the benefit of CF genetic counseling. Farrell et al. J Pediatr. Obstet Gynecol.

    Research specifically related to the process of CF newborn screening has provided empiric evidence supporting the benefit of genetic counseling for families of infants with a positive newborn screen result for CF, showing that families who receive genetic counseling services demonstrate a better understanding of the implications of their child's newborn screen result than those who do not Ciske et al.

    What do I tell my patient about a referral to CF genetics? Patients referred to a CF genetic counselor can expect their appointment to include several components.

    The genetic counselor will obtain a detailed medical and family history, which will include targeted questions that will assist the genetic counselor in providing accurate risk assessment and counseling i. For patients interested in genetic testing for CF, the genetic counselor can provide information on the pros and cons of various testing options and will be able to facilitate the genetic testing process.

    Where can I find a genetic counselor specializing in CF genetics? Fetal Intervention and Therapy FIT is a specialized area of prenatal genetics that focuses on pregnancies diagnosed with fetal anomalies. Fetal therapy refers to the diagnosis, and sometimes treatment, of fetal anomalies before birth. Genetic counselors work as part of a multidisciplinary team in centers that provide comprehensive diagnostic services.

    Fetal intervention centers typically include many different and highly specialized care providers, such as fetal surgeons and maternal fetal medicine specialists. Some centers offer fetal interventions, which can range from less invasive procedures such as amnioreductions to more invasive procedures like open fetal surgery.

    Who should I refer to a Fetal Intervention and Therapy genetic counselor? Patients with pregnancies diagnosed with fetal anomalies, including: Multiple congenital anomalies Conditions for which fetal intervention may be available, such as myelomeningocele and congenital pulmonary airway malformation CPAM Conditions for which specialized care will be required at delivery, including ex utero intrapartum treatment EXIT or extra corporeal membrane oxygenation ECMO Conditions that will require care by pediatric specialists after delivery What benefit does a Fetal Intervention and Therapy genetic counselor provide to my patients?

    A Fetal Intervention and Therapy genetic counselor provides a thorough assessment of the family and personal medical history. We discuss recurrence risks for future pregnancies and risks to other family members, as well as available screening options for the condition.

    Parental decision after genetic counseling for prenatal detection of sex chromosomal abnormalities

    We also facilitate the genetic testing process, by identifying the most useful genetic test for the patient and their family. We also assist with coordination of post-natal care and help communicate recommendations to families and healthcare providers.

    We work as liaisons to pediatric providers and help families bridge the gap between pre- and post-natal care. Finally, we help patients and their families deal with the psychosocial aspects of a fetal diagnosis. We discuss pregnancy options and provide emotional support. We assist with referral to other resources, like counselors, support groups or even other families as needed.

    What do I tell my patient about a referral to Fetal Intervention and Therapy genetics? We will discuss any testing options that may be available to provide more information regarding the patient's pregnancy.

    We will discuss the fetal condition and review option for intervention, if available, in terms that make sense to the patient. We will also provide support and referrals to community resources as needed. Each center has their own evaluation process, so the patient may have appointments with other professionals as well.

    Types of Genetic Diseases

    Hematology Genetics What is hematology genetics? Hematology genetics is the study of genetic and environmental factors that influence non-malignant hematologic conditions. Some of these conditions include bleeding disorders, thrombophilias and hemoglobinopathies. These disorders have various etiologies, disease causing mutations and inheritance patterns.

    Genetic testing is available for many of the known disease causing genes, and there is ongoing research to identify additional causative or disease-modifying genes. Who should I refer to a genetic counselor that specializes in hematology?

    Individuals who have a diagnosis or family history of a benign hematologic condition should be referred. Referral to a hematology genetic counselor should also be considered when a patient has a known or suspected genetic condition involving hematologic disease such as Fanconi anemia, Hermansky-Pudlak syndrome or thrombocytopenia absent radius TAR syndrome. Patients will benefit from genetic services throughout the many stages of their life i.

    What evidence is there to recommend or support genetic counseling in hematology genetics? The American College of Medical Genetics has issued guidelines for Factor V Leiden and prothrombin GA testing, which include the use of genetic counselors for result interpretation and communication with the patient.

    In addition, the use of genetic counseling in thrombophilia care is discussed in articles by Varga , E. What do I tell my patient about a referral to hematology genetics what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them?

    Chromosome Abnormalities and Genetic Counseling: Fourth Edition

    Genetic counseling appointments are tailored to each patient's reason for referral and questions. In general, your patient's medical and family histories will be obtained and available testing results will be reviewed. The patient's genetic diagnosis, the inheritance pattern of the disease and risks to other family members will be discussed in detail.

    Psychosocial issues and reproductive options will also be discussed, particularly if your patient is interested. The goal of the appointment is to provide your patient with information that is accurate, concise and easy to understand. Patients who meet with a genetic counselor have a unique opportunity to receive ongoing support, information and continuity of care all of which provide a solid foundation for personalized and informed decision making.

    Metabolic Genetics What is metabolic genetics? Metabolic genetics is a medical specialty that focuses on the diagnosis, treatment, and long term follow-up of patients with inborn errors of metabolism. These conditions include: disorders of amino acid and organic acid metabolism, fatty acid oxidation disorders, glycogen storage disorders, peroxisomal disorders, urea cycle disorders, disorders of carbohydrate metabolism and transport, disorders of creatine metabolism and transport, mitochondrial disorders and lysosomal storage disorders.

    There are hundreds of different inborn errors of metabolism. Who should I refer to a metabolic genetic counselor?