Genetic counseling and the pediatrician.
The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D010372:Pediatrics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics