Genetic counseling.
Genetic counseling is a process of communicating medical aspects about a genetic disorder, especially the information regarding risk of occurrence as recurrence of the disease in the family and preventive options. Accurate diagnosis of the affected member is of paramount importance for genetic counseling. Special genetic investigations like DNA analysis and chromosomal analysis are essential for many cases and especially when prenatal diagnosis is necessary. It is essential for pediatricians to identify cases with genetic disorders or possibly genetic disorders. These cases should be adequately worked up to identify accurate etiology as far as possible. The investigations should be done even if they are not going to make any difference in the outcome of the child. The genetic disorders present not only in neonates, but also in children, stillbirths and fetuses. Hence, autopsy of stillbirth and fetuses terminated after prenatal diagnosis is essential for genetic counseling. The importance of genetic counseling as an integral part of management of genetic disorders has to be realized by all clinicians. Pediatricians with short training can take over the responsibility of providing counseling for common genetic disorders and may need to refer others to genetic centre for counseling and prenatal diagnosis.
Phadke
Shubha R
SR
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000523:psychology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis