Thursday, 29 March 2018

Real Women-Real Experiences 13- Down's Syndrome Screen Positive on Genetic Testing- Leading to Second Trimester MTP ( Abortion )

Real Women-Real Experiences 13- Down's Syndrome Screen Positive on Genetic Testing- Leading to Second Trimester MTP ( Abortion )

We happened to deal with a case of 37 years old women for whom Double Marker ( Genetic screening testing for first trimester ie 11-13 weeks) came as high risk .
Double marker test is a maternal blood test. Two hormones of pregnancy Beta HCG and PAPP-A are estimated and results are extrapolated against those women who gave birth to mentally  normal children.
Risk estimation is done for three syndromes
1) Down's syndrome
2) Patau's syndrome
3) Edwards's syndrome

For these kind of patients further testing for confirmation is also done by either CVS- Chorionic Villus Sampling or Amniocentesis. Both these tests avail samples of fetal cells for Karyotyping ( Determination of chromosomes and genes) .
Upon doing these tests for this patient , we found that this fetus was genetically abnormal.
Patient and her husband were counselled  about adverse condition of baby and second trimester termination of pregnancy was offered, which they accepted.



The point which we are stressing here is that in this modern age and era excellent ways of determining fetal health during pregnancy are available. They include Genetic testing like Double marker and Quadruple marker, above mentioned CVS and Amniocentesis, FISH ( Fluorescent In Situ Hybridization ) , Karyotyping and Gene mapping, Level 3 Ultrasound ( 3D and 4D ) and Fetal 2D ECHO ( for fetal heart defects ) . The list goes on further too.
These techniques offer benefit to determine to a large extent that  a physically and mentally healthy child is born to all parents.

My Gynaec World makes an effort to spread awareness about comprehensive woman health care through our website, blogs and YouTube channelBy
Dr Himani Gupta
My Gynaec World
To know more log onto our website
www.mygynaecworld.com


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