Screening and diagnostic tests for chromosomal abnormalities

The need for screening for chromosomal abnormalities came in the 1970s in developed countries. The idea was to identify chromosomal abnormal babies early in pregnancy and terminate such pregnancies instead of carrying it to term. The chromosomal abnormalities under question are as following:
• Down syndrome or Trisomy 21 (T21),
• Edward syndrome or Trisomy 18 (T18) and
• Patau syndrome or Trisomy 13 (T13).
Others are Turners syndrome, triploidy and sex chromosome abnormalities. Over the years the primary motive has been to identify and subject those few women who screen positive for chromosomal abnormalities to invasive diagnostic tests - CVS or amniocentesis.


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