On a bleak Monday afternoon, I had an appointment and hence was forced out of bed to the clinic. Here I met 51 year old Rajan, 45 year old Rema and their 15 year old son Rohit. They were silent for a long time after entering my chamber, it was very awkward. I saw the expression of despair on their faces and it was then that I observed that something is wrong with Raju and immediately it struck me – he was a affected with the Down Syndrome.
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8 or 9 year old child, but this varies widely. Down syndrome is the most common chromosome abnormality in humans, occurring in about one per 1000 babies born each year.
Raju and Rema were in tears as they explained their situation. Even though they loved their son dearly, they badly wanted another healthy child. But this was not an easy task, as risk of having a baby with Down syndrome is higher if you already had another baby with Down syndrome. Moreover, their age added to the risk factors. Researchers have proved that the risk of delivering a downs baby increases for women from the age of 35. Seeing their desperation I sincerely wanted to help them, but I knew it would be a great challenge.
I agreed to help them, but on certain conditions – first being - will try with a healthy donor egg as this will reduce the chance of downs by 50%. But using the Fathers sperm, there is still another 50% chance that the next baby could also be born with down syndrome. With the modern technology and latest scientific breakthroughs, I decided to go ahead.
Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. In this case as we were performing an IVF, there are tests like PGD (Pre-Implantation Genetic Disorders) which can be done even before the embryo is transferred and we can transfer healthy embryos. Prior to this we had also conducted a sperm DNA Fragmentation test to check the quality of sperms and this came out normal, but since we did not want to take any chance PGD was also done. Even after transferring the embryo to the surrogate mother we continued with other tests such as the non-invasive Maternity trisomy 21 test, where a blood sample from the surrogate mother would give the genetic composition of the baby. All tests gave normal results, but still I was more apprehensive than the parents, for I had assured them a healthy baby.
All through the gestation period (Pregnancy), I was anxious, I had to make sure nothing went wrong and hence regular checkups and tests were done. Ultrasound imaging can be used to screen for Down syndrome. Findings that indicate increased risk when seen at 14 to 24 weeks of gestation include a small or no nasal bone, large ventricles, nuchal fold thickness and an abnormal right subclavian artery, among others. The presence or absence of many markers is more accurate. Increased fetal nuchal translucency (NT) indicates an increased risk of Down syndrome.
After the delivery, pediatrician checked and conducted tests and scans for the baby to rule out Down’s syndrome. Completely satisfied I handed over a perfectly healthy baby to the happy family.
Since it was a special baby to me I kept checking every 2 weeks, if she was fine. Two months later, I was invited to their palatial mansion in the heart of Bangalore city. It was immensely gratifying to look at the overjoyed parents. Rohit had a special gleam on his face when he tried to entertain his little sister Rohini. I felt so proud and contented, while holding little Rohini.
Dr. Mani
Surrogacy specialist
GIFT IVF Centre (Director)
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