Monday, July 18, 2011

Surgery for the unborn baby with Spina Bifida

Yes, I knew it was possible, and I applaud it. Yet, the unsettling thing is that the listeners of NPR are amazed by the fact that an unborn baby is worthy of surgery, some are actually saying that it runs contrary to natural selection and good economic sense. Read the article here. 
There are scientists who are discovering possible pre-natal biochemical therapies for Down syndrome, like Dr Jim Paddy Baggot of Los Angeles, CA. He sees some ways that the malformation of babies with Down syndrome can be stopped by intervening before birth by making sure the developing baby is given the right chemicals. to overcome genetic defects. Dr Baggot describes his work;

Initially, my research centered on  pathways involving folate metabolism. This was because earlier research conducted by Drs. Lejeune and Peeters suggested a problem of folate deficiency in Down syndrome. And indeed we did find an abnormality in the pathway of folate metabolism.
When we compared our work with other similar research, we found that our results can be explained by a gene that was present in chromosome 21.
There are normally 2 copies of chromosome 21 in each cell. With Down syndrome, there is an extra copy of chromosome 21. That means that there are three copies of each gene on chromosome 21. Gene products of chromosome 21 will be increased by 50%. What we saw in our data was that the substrate of the gene product was reduced by similar amount. When a result is caused by a 50% increase of gene product, this is called the gene dosage effect. As far as we know, we were the first to show gene dosage effect on this gene, and the first to show gene dosage effect in amniotic fluid.
As part of our comprehensive global survey, we looked at carbohydrates and simple sugars. It revealed no major abnormalities. It was important to look at simple sugars because one syndrome of mental retardation known as galactosemia is characterized by an excess of a simple sugar, galactose. This work was published online at Internet Journal of Gynecology and Obstetrics.
In 2008, our research team was blessed with the publication of two additional  articles in the prestigious medical journal Fetal Diagnosis and Therapy.*

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priest's wife said...

Dr baggot was the doctor who gave me a standing prescription for progestorone so I could start hormones as soon as I knew I was pregnant Babies #3 and 4 were born because of him!

'Normal' docs said I should just keep having super-early miscarriages ---grrrr

Leticia said...

He sounds like a great OB.
Wish there were more like him.
I had three early miscarriages before they realized I needed Progesterone.