A woman who was pregnant(8 weeks) on clinical examination was found to have conceived a defective foetus with a serious genetic defect.
(1) with what test would the doctor have confirmed tfe genetic defect.
(2) what suggestive measure would you recommended?
(3) name any one complication associated with this tehnique?

Asked by poojaparmar065 | 15th Sep, 2014, 12:29: PM

Expert Answer:

(1) Since the woman was 8 weeks pregnant, the detection of defective foetus with a serious genetic defect could have been done by the technique of Chorionic Villi Sampling (CVS). CVS can be performed early, between the 8th and 10th weeks of pregnancy as opposed to amniocentesis which can be performed between 16th and 22nd weeks of pregnancy.

In chorionic villi sampling, a narrow flexible tube is inserted through the mother’s vagina and cervix into the uterus to draw a small amount of foetal tissue from the placenta. As the cells undergo rapid mitosis, they can be used for karyotyping.

(2) If it is established that the child is likely to suffer from a serious incurable congenital defect, it is suggested that the mother should get the foetus aborted.

(3) The procedure of Chorionic Villi Sampling is invasive. It carries an inherent risk to both the foetus and the mother. It is advisable to perform the test for the pregnant women above the age of 35 because of the enhanced risk of Down’s syndrome.

Answered by Sheetal Kolte | 16th Sep, 2014, 11:20: AM