Follow-Up and Community Care of the Child With a Chronic Disease

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DOI :10.26650/B/CH32.2024.010.042   IUP :10.26650/B/CH32.2024.010.042    Full Text (PDF)

Geneti̇c Counseling in the Child with Chronic Disease

Birsen Karaman, Asuman Gedikbaşı

In the last decade, developments in gene technologies have frequently addressed genetic diagnosis, genetic counseling, and gene therapies in pediatric clinical practice. Hereditary characteristics emerging since the fetal period (i.e., neonatal and childhood stages) require pediatricians to have knowledge about genetics. Genetic counseling is a comprehensive process that includes the inheritance pattern of the disease, evaluation of family members at risk, risk of recurrence, treatment opportunities, and reproductive options for the family. Moreover, genetic counseling is a field with ethical and legal dimensions where it is not sufficient to have only medical and genetic information and an interdisciplinary approach is required. Since child health begins in the intrauterine period, genetic counseling may be required for factors that may affect the baby before pregnancy, during the fetal period, during infancy, or during childhood. A family might be referred to a genetic counselor for recurrent pregnancy loss, poor obstetric history, unexplained intrauterine growth retardation, single major or multiple minor congenital anomalies, dysmorphic features, abnormal newborn screening test or inherited metabolic disease symptoms, persistent seizures, autism, or pervasive developmental disorder. A definitive diagnosis should be established, and the genetic origin and inheritance pattern of the disease should be known in order to determine the risk of recurrence. In this section, genetic counseling on chromosomal syndromes common in the community, , single-gene disorders that are nationally screened, and multifactorial diseases are summarized. 


Keywords: Genetic counseling, chromosomal, monogenic, multifactorial disorders, pediatric genetics
DOI :10.26650/B/CH32.2024.010.042   IUP :10.26650/B/CH32.2024.010.042    Full Text (PDF)

Kroni̇k Hastalığı Olan Çocukta Geneti̇k Danışmanlık

Birsen Karaman, Asuman Gedikbaşı

Son on yılda, gen teknolojilerindeki gelişmeler; genetik tanı, genetik danışma, gen tedavileri gibi kavramları çocuk sağlığı ve hastalıkları pratiğinde daha sık karşımıza çıkarmaktadır. Kalıtsal özelliklerin klinik yansımalarının fetal dönemden başlayarak, yenidoğan ve çocukluk evrelerinde gözlenmesi, çocuk uzmanlarının genetik konusunda daha fazla bilgi sahibi olmalarını gerektirir. Genetik danışmanlık, başvuran aileye, hastalığın kalıtım şekli, risk altındaki aile bireylerinin değerlendirilmesi, tekrar riskleri, tedavi olanakları ve üreme seçeneklerinin sunulmasını içeren kapsamlı bir süreçtir. Sadece tıbbi ve genetik bilginin yeterli olmadığı, etik ve hukuksal boyutları da olan bir alandır ve interdisipliner bir yaklaşımla sürdürülür. Çocuk sağlığı intrauterin dönemde başladığından, gebelik öncesinde, fetal dönemde, bebeklik veya çocukluk döneminde bebeği etkileyebilecek faktörler için genetik danışmanlık gerekebilir. Bir ailenin genetik danışmaya yönlendirilmesinin nedenleri, tekrarlayan gebelik kaybı, kötü obstetrik öykü, açıklanamayan intrauterin büyüme geriliği, tek majör veya çoklu minör konjenital anomaliler, dismorfik özellikler, anormal yenidoğan tarama testi veya kalıtsal metabolik hastalık semptomları, kalıcı nöbetler, otizm veya yaygın gelişimsel bozukluk olarak sayılabilir. Genetik danışma verilebilmesi için, kesin bir tanı sağlanmış olmalıdır ve sonraki gebeliklerde tekrar riskinden söz edebilmek, hastalığın genetik kökeni ve kalıtım paterni bilinmesiyle mümkündür. Bu bölümde sık karşılaşılan kromozom sendromları, ulusal tarama programına dahil olan tek gen hastalıkları ve multifaktöriyel hastalık örneklerinin genetik danışması özetlenmiştir.


Keywords: Genetik danışmanlık, kromozomal, monogenik, multifaktoriyel hastalıklar, pediatrik genetik

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