Phadke Shubha R
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Indian J Pediatr. 2004 Feb;71(2):151-6. doi: 10.1007/BF02723098.
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.
遗传咨询是一个传达有关遗传疾病医学方面信息的过程，尤其是关于疾病在家族中发生及复发风险的信息以及预防措施。对受影响成员进行准确诊断对于遗传咨询至关重要。许多情况下，特别是在需要进行产前诊断时，DNA分析和染色体分析等特殊基因检测是必不可少的。儿科医生识别患有遗传疾病或可能患有遗传疾病的病例至关重要。应尽可能对这些病例进行充分检查以确定准确的病因。即使这些检查对患儿的预后没有任何影响，也应该进行。遗传疾病不仅出现在新生儿中，也出现在儿童、死产儿和胎儿中。因此，对死产儿和产前诊断后终止妊娠的胎儿进行尸检对于遗传咨询至关重要。所有临床医生都必须认识到遗传咨询作为遗传疾病管理不可或缺的一部分的重要性。经过短期培训的儿科医生可以承担起为常见遗传疾病提供咨询的责任，可能需要将其他患者转介到遗传中心进行咨询和产前诊断。
