14 research outputs found

    General aspects, main steps and special issues in genetic counselling medical practice

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    РСзюмС. Бтатията основно Π΅ насочСна към ΠΌΠ΅Π΄ΠΈΡ†ΠΈ, ΠΊΠΎΠΈΡ‚ΠΎ Π½Π΅ са СкспСрти ΠΈΠ»ΠΈ спСциалисти Π² ΠΏΠΎΠ»Π΅Ρ‚ΠΎ Π½Π° мСдицинската Π³Π΅Π½Π΅Ρ‚ΠΈΠΊΠ°, a ΠΏΠΎ-скоро към Π±ΠΎΠ»Π½ΠΈΡ‡Π½ΠΈΡ‚Π΅ клиницисти, Ρ„Π°ΠΌΠΈΠ»Π½ΠΈ Π»Π΅ΠΊΠ°Ρ€ΠΈ ΠΈ нСмСдицински Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΈ консултанти със спСцифичСн ΠΎΠΏΠΈΡ‚ Π² някоя ΠΎΡ‚ областитС Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΎΡ‚ΠΎ консултиранС. Вя прСдставя организацията Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΈΡ‚Π΅ слуТби Π² Π½Π°ΡˆΠ°Ρ‚Π° страна - Ρ‚Π΅ са структури ΠΎΡ‚ ΠΈΠ½Ρ‚Π΅Π³Ρ€ΠΈΡ€Π°Π½ΠΈ Ρ€Π΅Π³ΠΈΠΎΠ½Π°Π»Π½ΠΈ Ρ†Π΅Π½Ρ‚Ρ€ΠΎΠ²Π΅ Π² унивСрситСтскитС Π±ΠΎΠ»Π½ΠΈΡ†ΠΈ, ΡΡŠΡ‡Π΅Ρ‚Π°Π²Π°Ρ‰ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡ‡Π½ΠΈ, Π»Π°Π±ΠΎΡ€Π°Ρ‚ΠΎΡ€Π½ΠΈ ΠΈ Π°ΠΊΠ°Π΄Π΅ΠΌΠΈΡ‡Π½ΠΈ дСйности. Бтатията прСдставя ΡΡŠΡ‰Π½ΠΎΡΡ‚Ρ‚Π° ΠΈ основнитС Π΅Π»Π΅ΠΌΠ΅Π½Ρ‚ΠΈ Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΎΡ‚ΠΎ консултиранС: диагностични ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡ‡Π½ΠΈ аспСкти, Π΄ΠΎΠΊΡƒΠΌΠ΅Π½Ρ‚ΠΈΡ€Π°Π½Π΅ Π½Π° Ρ„Π°ΠΌΠΈΠ»Π½Π°Ρ‚Π° ΠΈ родословна информация, установяванС Π½Π° Ρ‚ΠΈΠΏΠ° Π½Π° унаслСдяванС Π² ΠΊΠΎΠ½ΠΊΡ€Π΅Ρ‚Π½ΠΎΡ‚ΠΎ сСмСйство, комуникация Π·Π° ΠΈΠ½Ρ„ΠΎΡ€ΠΌΠΈΡ€Π°Π½Π΅ Π·Π° Π½Π°Π»ΠΈΡ‡Π½ΠΈΡ‚Π΅ Π²ΡŠΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡ‚ΠΈ, обслуТванС ΠΈ Π±ΡŠΠ΄Π΅Ρ‰ΠΎ ΠΏΠΎΠ²Π΅Π΄Π΅Π½ΠΈΠ΅, ΠΏΠΎΠ΄ΠΊΡ€Π΅ΠΏΠ° ΠΏΡ€ΠΈ процСса Π½Π° ΠΈΠ·Π³Ρ€Π°ΠΆΠ΄Π°Π½Π΅ ΠΈΠ»ΠΈ Π²Π·Π΅Ρ‚ΠΎ Ρ€Π΅ΡˆΠ΅Π½ΠΈΠ΅. Въй ΠΊΠ°Ρ‚ΠΎ мСдицинската Π³Π΅Π½Π΅Ρ‚ΠΈΠΊΠ° Π΅ Π² процСс Π½Π° прогрСсиращо разпространСниС Π² своСто ΠΏΡ€ΠΈΠ»ΠΎΠΆΠ΅Π½ΠΈΠ΅ извън спСциалнитС Ρ†Π΅Π½Ρ‚Ρ€ΠΎΠ²Π΅, възниква нарастваща нСобходимост Π·Π° клиницисти ΠΎΡ‚ Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈ мСдицински спСциалности Π΄Π° сС Π°Π½Π³Π°ΠΆΠΈΡ€Π°Ρ‚ ΠΏΠΎ-Π°ΠΊΡ‚ΠΈΠ²Π½ΠΎ към Π½ΡƒΠΆΠ΄ΠΈΡ‚Π΅ ΠΎΡ‚ Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΎ консултиранС Π·Π° ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΈΡ‚Π΅, ΠΊΠΎΠΈΡ‚ΠΎ Ρ‚Π΅ обслуТват.This paper is primarily for those who are not experts or specialists in the field of Medical genetics, but for the general hospital clinicians, family doctors or non-medical genetic counselors with a specific training in the field. It gives the organization of genetic services our country - they are provided in integrated regional centers in university hospitals, incorporating clinical, laboratory and teaching activities.The paper lists the principal elements of genetic counseling: diagnostic and clinical aspects, documentation of family and pedigree information, recognition of inheritance patterns and risk estimation in the particular family, communication and information on available options and further measures, support in decision - making and for decisions made. As medical genetics progressively spreads out in its applications beyond specialist canters, there is a growing need for clinicians in different medical fields to engage actively with genetic counseling needs of those whom they see

    Prenatal diagnosis - Basic genetic approach to prophylaxis

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    РСзюмС: ΠŸΡ€ΠΎΡ„ΠΈΠ»Π°ΠΊΡ‚ΠΈΠΊΠ°Ρ‚Π°, ΠΊΠ°Ρ‚ΠΎ икономичСски ΠΈ ΠΌΠ΅Π΄ΠΈΠΊΠΎ-социално Π½Π°ΠΉ-Π΅Ρ„Π΅ΠΊΡ‚ΠΈΠ²Π΅Π½ ΠΌΠ΅Ρ‚ΠΎΠ΄ Π·Π° прСвСнция, слСдва Π΄Π° бъдС ΠΏΡ€Π΅ΠΎΡ€ΠΈΡ‚Π΅Ρ‚ Π½Π° всяка мСдицинска спСциалност. Π’ Π΅Ρ€Π°Ρ‚Π° Π½Π° Ρ„ΡƒΠ»ΠΌΠΈΠ½Π°Π½Ρ‚Π½ΠΎ Ρ€Π°Π·Π²ΠΈΠ²Π°Ρ‰ΠΈ сС Ρ‚Π΅Ρ…Π½ΠΎΠ»ΠΎΠ³ΠΈΠΈ, мСдицинската Π³Π΅Π½Π΅Ρ‚ΠΈΠΊΠ° Ρ€Π°Π·ΠΏΠΎΠ»Π°Π³Π° с всС ΠΏΠΎΠ²Π΅Ρ‡Π΅ срСдства Π·Π° Π±ΠΎΡ€Π±Π° с Ρ‚Π΅ΠΆΠΊΠΈΡ‚Π΅ Π²Ρ€ΠΎΠ΄Π΅Π½ΠΈ заболявания. Π’ статията са прСдставСни ΡΡŠΡ‰Π½ΠΎΡΡ‚Ρ‚Π° ΠΈ основнитС Π΅Π»Π΅ΠΌΠ΅Π½Ρ‚ΠΈ ΠΏΡ€ΠΈ ΠΏΡ€ΠΎΠ²Π΅ΠΆΠ΄Π°Π½Π΅Ρ‚ΠΎ Π½Π° Π½Π΅ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ ΠΈ ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈ Π·Π° ΠΏΠ΅Π½Π°Ρ‚Π°Π»Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½Π° ΠΏΡ€ΠΎΡ„ΠΈΠ»Π°ΠΊΡ‚ΠΈΠΊΠ°. Биохимичния скрининг ΠΈ Π½ΠΎΠ²ΠΈΡ‚Π΅ Π½Π°ΡΡ‚ΡŠΠΏΠ²Π°Ρ‰ΠΈ всС ΠΏΠΎ-масово тСстовС Π·Π° Π°Π½Π°Π»ΠΈΠ· Π½Π° свободна Ρ„Π΅Ρ‚Π°Π»Π½Π° Π”ΠΠš, ΠΊΠ°ΠΊΡ‚ΠΎ ΠΈ послСдващитС диагностични Π°Π½Π°Π»ΠΈΠ·ΠΈ, ΠΈΠΌΠ°Ρ‚ освСн ΡΡŠΠΎΡ‚Π²Π΅Ρ‚Π½ΠΈΡ‚Π΅ Π²ΡŠΠ·ΠΌΠΎΠΆΠ½ΠΎΡΡ‚ΠΈ Ρ‚Π°ΠΊΠ° ΠΈ ΠΎΠΏΡ€Π΅Π΄Π΅Π»Π΅Π½ΠΈ ограничСния. ΠŸΡ€Π΅Π΄Ρ‚Π°Π²Π΅Π½ΠΈ са ΠΈΠ½Π΄ΠΈΠΊΠ°Ρ†ΠΈΠΈΡ‚Π΅ Π·Π° ΠΏΡ€ΠΎwΠ΅ΠΆΠ΄Π°Π½Π΅, ΠΊΠ°ΠΊΡ‚ΠΎ ΠΈ условията Π·Π° ΠΏΠΎΠ΄Π±ΠΎΡ€ Π½Π° ΠΏΠΎΠ²Π΅Π΄Π΅Π½ΠΈΠ΅ Π² ΡΡŠΠΎΡ‚Π²Π΅Ρ‚ΡΠ²ΠΈΠ΅ с ΠΌΠΎΡ€Π°Π»Π½ΠΎ-Π΅Ρ‚ΠΈΡ‡Π½ΠΈΡ‚Π΅ ΠΈ ΠΏΡ€Π°Π²Π½ΠΈ Π½ΠΎΡ€ΠΌΠΈ. Π”ΠΈΠ½Π°ΠΌΠΈΠΊΠ°Ρ‚Π° Π² Ρ€Π°Π·Π²ΠΈΡ‚ΠΈΠ΅Ρ‚ΠΎ Π½Π° областта Π΅ ΠΎΠ³Π³Ρ€ΠΎΠΌΠ½Π° ΠΈ само Π²Ρ€Π΅ΠΌΠ΅Ρ‚ΠΎ Ρ‰Π΅ ΠΎΡ‚Π²ΡŠΡ€Π΄ΠΈ ΠΈΠ»ΠΈ ΠΎΡ‚Ρ…Π²ΡŠΡ€Π»ΠΈ Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈΡ‚Π΅ ΠΏΠΎΠ΄Ρ…ΠΎΠ΄ΠΈ Π·Π° ΠΏΡ€Π΅Π½Π°Ρ‚Π°Π»Π½Π° диагностика.Prophylaxis, as economicaly and socially most effective method of prevention, should be priority of all medical specialties. In the era of emerging technologies, medical genetics has more tools to fight serious congenital diseases. The article presents key moments and principle elements in providing non-invasive and invasive methods as prenatal genetic prevention. Maternal biochemical screening and the new non-invasive prenatal genetic tests as well as prenatal diagnostic tests have their possibilities and limitations. Indications for providing prenatal diagnosis together with moral, ethical and legal standards are listed. There is huge dynamics in development of the field so only time will approbated or reject various approaches to prenatal diagnosis

    The IVS8(n)-T variant in the CFTR gene as a factor for male infertility

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    The CFTR gene is one of the new candidate genes, which are thought to be required for normal spermatogenesis. Different variants in this gene, for example IVS8-(n)T polymorphism, could be associated with its impaired functioning and could lead to male infertility. The aim of this study is to investigate whether this variant is found among Bulgarian patients with male infertility.We conducted molecular genetic testing of 25 men with sperm count below 5Γ—106/mL in order to search for the presence of the IVS8(n)-T variant in their CFTR genes. The derived sequences were analyzed and compared to the human reference genome.The median age of the participants with impaired spermatogenesis was 34.00 years. The median concentration of the sperm cells in the ejaculate was 0.30Γ—106/ mL. After we conducted the molecular genetic analysis for variants in the CFTR gene, it was found that one participant (4.00%) was a homozygote for the 5Π’/5Π’ variant, and another one (4.00%) was a heterozygote for the 5Π’/7Π’ variant.Β  As for the remaining participants, 20 men (80.00%) were homozygotes for the wild 7Π’ variant, two (8.00%) – heterozygotes for the 7Π’/9Π’ variant, and one (4.00%) – a homozygote for the 9Π’/9Π’ variant.Β This study established the presence of the 5Π’ variant in the CFTR gene among the participants with impaired fertility due to azoospermia or severe oligozoospermia. This finding supports the role of polymorphisms in the CFTR gene and in particular the 5Π’ variant as a reason for male infertility

    Standard karyotyping - a look through the European guidelines

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    Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations.Standard karyotyping is a method for genetic testing for chromosomal aberrations, based on specific clinical indications. Despite the progress in the field of molecular genetic testing, it still remains the first choice for genetic testing in developing countries due to financial and economic factors. In 2019, the latest European guidelines for constitutional cytogenomic analysis were released. They include general and specific guidelines for pre-analytical recommendation, sample preparation, analysis and reporting. Possibilities, limitations and minimum requirements for specific genetic testings are listed. Following the established European guidelines for genetic analysis and/or re-contacting patients with a possible genetic diagnosis will provide up-to-date medical service. Each laboratory should apply validated protocols for testing, based on the newly introduced recommendations by leading in the field organizations

    MLPA analysis - application in the diagnostic activity of the medical geneticist

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    The article is mainly focused on physicians (hospital clinicians, family doctors) without specific experience in medical genetics, whose patients present with a probable genetic condition. We present the essence, possibilities and limitations of multiplex ligase-dependent amplification (MLPA) as a method for establishing a genetic diagnosis. The article describes cases from the experience of the Laboratory of Medical Genetics, Varna in the application of the method as a target and/or screening test in children with dysmorphic features and/or mental retardation. We emphasize on the role of the medical geneticist in patient selection, the choice of analysis, and comment on the results

    Maternal Biochemical Screening as a Method for Prenatal Genetic Prophylaxis /// ΠœΠ°ΠΉΡ‡ΠΈΠ½ Π±ΠΈΠΎΡ…ΠΈΠΌΠΈΡ‡Π΅Π½ скрининг ΠΊΠ°Ρ‚ΠΎ ΠΌΠ΅Ρ‚ΠΎΠ΄ Π·Π° ΠΏΡ€Π΅Π½Π°Ρ‚Π°Π»Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½Π° ΠΏΡ€ΠΎΡ„ΠΈΠ»Π°ΠΊΡ‚ΠΈΠΊΠ°

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    Maternal biochemical screening is a method of genetic prophylaxis and aims to provide a maximum accurate individual risk assessment for the most common and clinically relevant aneuploidy in the foetus, detecting mainly Down syndrome (trisomy 21). The process includes informed gynaecologist, certified ultrasound specialist in fetal anatomy, accredited laboratory, trained genetic counsellor, and a collaborative patient. Performance outcomes are expected to vary depending on the applied method, and there is no definite opinion on the choice of a particular approach. Genetic counselling should be offered to every pregnant woman, explaining test’s advantages and disadvantages. In Bulgaria there is no systematized results published over a long period of time. The aim of the study is to evaluate the effect of the program provided by the Laboratory of Medical Genetics, St. Marina University Hospital - Varna for ten years. The main aspects for validity of the test are evaluated - sensitivity, specificity and positive predictive value. Despite the widespread introduction of new cell free fetal DNA tests, biochemical screening remains the most widely used method and, together with the medical-genetic counselling, aims to provide optimal prenatal care with the best possible outcome for both the mother and the foetus.ΠœΠ°ΠΉΡ‡ΠΈΠ½ Π±ΠΈΠΎΡ…ΠΈΠΌΠΈΡ‡Π΅Π½ скрининг ΠΊΠ°Ρ‚ΠΎ ΠΌΠ΅Ρ‚ΠΎΠ΄ Π·Π° ΠΏΡ€Π΅Π½Π°Ρ‚Π°Π»Π½Π° Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½Π° ΠΏΡ€ΠΎΡ„ΠΈΠ»Π°ΠΊΡ‚ΠΈΠΊΠ° Ρ†Π΅Π»ΠΈ Π½Π°Π²Ρ€Π΅ΠΌΠ΅Π½Π½ΠΎ осигуряванС Π½Π° максимално Ρ‚ΠΎΡ‡Π½Π° ΠΈΠ½Π΄ΠΈΠ²ΠΈΠ΄ΡƒΠ°Π»Π½Π° ΠΎΡ†Π΅Π½ΠΊΠ° Π½Π° риска Π·Π° Π½Π°ΠΉ-чСститС ΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡ‡Π½ΠΎ Π·Π½Π°Ρ‡ΠΈΠΌΠΈ Π°Π½eΡƒΠΏΠ»ΠΎΠΈΠ΄ΠΈΠΈ ΠΏΡ€ΠΈ фСтуса. КасаС социално Π·Π½Π°Ρ‡ΠΈΠΌΠΈ заболявания асоциирани с Ρ‚Π΅ΠΆΠΊΠ° ΠΊΠ»ΠΈΠ½ΠΈΡ‡Π½Π° ΠΊΠ°Ρ€Ρ‚ΠΈΠ½Π° ΠΈ/ΠΈΠ»ΠΈ Π½Π°ΠΌΠ°Π»Π΅Π½ ΠΈΠ½Ρ‚Π΅Π»Π΅ΠΊΡ‚, ΠΊΠ°Ρ‚ΠΎ Π°ΠΊΡ†Π΅Π½Ρ‚ΠΈΡ€Π° Π²ΡŠΡ€Ρ…Ρƒ ΠΎΡ‚ΠΊΡ€ΠΈΠ²Π°Π½Π΅Ρ‚ΠΎ Π½Π° синдрома Π½Π° Π”Π°ΡƒΠ½ (тризомия 21). Π’ΠΊΠ»ΡŽΡ‡Π²Π° ΠΈΠ½Ρ„ΠΎΡ€ΠΌΠΈΡ€Π°Π½ Π°ΠΊΡƒΡˆΠ΅Ρ€-Π³ΠΈΠ½Π΅ΠΊΠΎΠ»ΠΎΠ³, сСртифициран ΡƒΠ»Ρ‚Ρ€Π°Π·Π²ΡƒΠΊΠΎΠ² спСциалист ΠΏΠΎ Ρ„Π΅Ρ‚Π°Π»Π½Π° анатомия, Π°ΠΊΡ€Π΅Π΄ΠΈΡ‚ΠΈΡ€Π°Π½Π° лаборатория, ΠΎΠ±ΡƒΡ‡Π΅Π½ Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π΅Π½ консултант ΠΈ ΠΊΠΎΠ»Π°Π±ΠΎΡ€Π°Ρ‚ΠΈΠ²Π½Π° ΠΏΠ°Ρ†ΠΈΠ΅Π½Ρ‚ΠΊΠ°. Π Π΅Π·ΡƒΠ»Ρ‚Π°Ρ‚ΠΈΡ‚Π΅ ΠΎΡ‚ СфСктивността ΠΎΡ‡Π°ΠΊΠ²Π°Π½ΠΎ Π²Π°Ρ€ΠΈΡ€Π°Ρ‚ Π² зависимост ΠΎΡ‚ Π²ΡŠΠ·ΠΏΡ€ΠΈΠ΅Ρ‚ΠΈΡ‚Π΅ ΠΏΠΎΠ΄Ρ…ΠΎΠ΄ΠΈ ΠΈ Π½Π΅ ΡΡŠΡ‰Π΅ΡΡ‚Π²ΡƒΠ²Π° ΠΊΠ°Ρ‚Π΅Π³ΠΎΡ€ΠΈΡ‡Π½ΠΎ ΠΌΠ½Π΅Π½ΠΈΠ΅ Π·Π° ΠΈΠ·Π±ΠΎΡ€ Π½Π° ΠΊΠΎΠ½ΠΊΡ€Π΅Ρ‚Π΅Π½ ΠΎΠΏΡ‚ΠΈΠΌΠ°Π»Π΅Π½ ΠΏΠΎΠ΄Ρ…ΠΎΠ΄. Π“Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΎ консултиранС трябва Π΄Π° ΡΡŠΠΏΡŠΡ‚ΡΡ‚Π²Π° всяка ΡΡ‚ΡŠΠΏΠΊΠ° ΠΎΡ‚ Π³Ρ€ΠΈΠΆΠ°Ρ‚Π° Π·Π° Π±Ρ€Π΅ΠΌΠ΅Π½Π½Π°Ρ‚Π°, ΠΊΠ°Ρ‚ΠΎ Π²Π½ΠΈΠΌΠ°Ρ‚Π΅Π»Π½ΠΎ пояснява Ρ€Π°Π·Π»ΠΈΡ‡Π½ΠΈΡ‚Π΅ аспСкти Π½Π° тСстовСтС (прСдимства ΠΈ Π½Π΅Π΄ΠΎΡΡ‚Π°Ρ‚ΡŠΡ†ΠΈ). Π—Π° Π±ΡŠΠ»Π³Π°Ρ€ΡΠΊΠ°Ρ‚Π° популация, липсват систСматизирани Ρ€Π΅Π·ΡƒΠ»Ρ‚Π°Ρ‚ΠΈ Π·Π° дълъг ΠΏΠ΅Ρ€ΠΈΠΎΠ΄ ΠΎΡ‚ Π²Ρ€Π΅ΠΌΠ΅, ΠΏΠΎΡ€Π°Π΄ΠΈ ΠΊΠΎΠ΅Ρ‚ΠΎ интСрСс прСдставлява ΠΎΠ±ΠΎΠ±Ρ‰Π°Π²Π°Π½Π΅ Π½Π° дСсСт годишния ΠΎΠΏΠΈΡ‚ Π½Π° Лаборатория ΠΏΠΎ мСдицинска Π³Π΅Π½Π΅Ρ‚ΠΈΠΊΠ° Π² ΠœΠ‘ΠΠ› β€žΠ‘Π². ΠœΠ°Ρ€ΠΈΠ½Π°β€œ Π’Π°Ρ€Π½Π° с Ρ†Π΅Π» ΠΏΡ€ΠΎΡƒΡ‡Π²Π°Π½Π΅ Π΅Ρ„Π΅ΠΊΡ‚Π° ΠΎΡ‚ дСйността. ΠžΡ†Π΅Π½Π΅Π½ΠΈ са основнитС Π΅Π»Π΅ΠΌΠ΅Π½Ρ‚ΠΈ Π·Π° валидността Π½Π° гСнСтичния тСст - Π½Π΅Π³ΠΎΠ²Π°Ρ‚Π° чувствитСлност, спСцифичност ΠΈ ΠΏΠΎΠ·ΠΈΡ‚ΠΈΠ²Π½Π° ΠΏΡ€Π΅Π΄ΠΈΠΊΡ‚ΠΈΠ²Π½Π° стойност. Π’ΡŠΠΏΡ€Π΅ΠΊΠΈ масово Π½Π°Π²Π»ΠΈΠ·Π°Ρ‰ΠΈΡ‚Π΅ Π½ΠΎΠ²ΠΈ Π½Π΅ΠΈΠ½Π²Π°Π·ΠΈΠ²Π½ΠΈ Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½ΠΈ изслСдвания, биохимичният скрининг остава Π½Π°ΠΉ-ΡˆΠΈΡ€ΠΎΠΊΠΎ прилоТимия ΠΌΠ΅Ρ‚ΠΎΠ΄ ΠΈ Π·Π°Π΅Π΄Π½ΠΎ с ΠΌΠ΅Π΄ΠΈΠΊΠΎ-Π³Π΅Π½Π΅Ρ‚ΠΈΡ‡Π½Π°Ρ‚Π° консултация Ρ†Π΅Π»ΠΈ Π΄Π° осигури ΠΎΠΏΡ‚ΠΈΠΌΠ°Π»Π½Π° ΠΏΡ€Π΅Π½Π°Ρ‚Π°Π»Π½Π° Π³Ρ€ΠΈΠΆΠ°, с възмоТно Π½Π°ΠΉ-Π΄ΠΎΠ±ΡŠΡ€ Ρ€Π΅Π·ΡƒΠ»Ρ‚Π°Ρ‚ ΠΊΠ°ΠΊΡ‚ΠΎ Π·Π° ΠΌΠ°ΠΉΠΊΠ°Ρ‚Π°, Ρ‚Π°ΠΊΠ° ΠΈ Π·Π° ΠΏΠ»ΠΎΠ΄Π°

    Acute myelogenous leukemia – current recommendations and approaches in molecular-genetic assessment

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    Acute myelogenous leukemia is a multi-step hematological malignancy, affecting function, growth, proliferation and cell cycle of myeloid precursors. Overall assessment of patients with the disease requires among everything else, a comprehensive investigation of the genetic basis through various methods such as cytogenetic and molecular-genetic ones. This clarification provides diagnostic refinement and carries prognostic and predictive value in respect of essential therapeutic choices

    16p11.2 Duplication Syndrome - a Case Report

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    16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation – slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic mutations were identified. Array comparative genomic hybridization analysis established the diagnosis of 16p11.2 duplication syndrome, which illustrates the importance of this method when diagnosing children with unexplained intellectual disability.&nbsp

    Comparison between thrombophilic gene polymorphisms among high risk patients

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    Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss
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