Genetics


With the introduction of ultrasound into clinical obstetrical care, the in-utero identification of fetal structural anomalies has become routine.. The ultrasound technology has continued to enhance and currently permits detection of most major anomalies, karyotyping and body microarray analysis offers disease-specific counselling to produce couples with the knowledge necessary to create knowledgeable procreative selections. Equally vital, information of the genotype will direct further craniate, neonatal, and pediatric management. Genetic abnormalities are conditions caused by changes to the genes or chromosomes. Inherited disorders are caused by gene mutations. These include disorders such as cystic fibrosis, sickle cell disease, and Tay-Sachs disease. Chromosomal abnormalities occur when there are missing or extra chromosomes or pieces of chromosomes. Down syndrome is an example of a genetic disorder caused by a chromosome abnormality.  Most chromosome abnormalities are not inherited.


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