Early detection (before birth) – Aminocentesis

In the previous post, we discussed how Tandem mass spectrometer can detect VLCAD in a newborn.
 

How about early detection of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency?

We were thinking if it would be possible to use aminocentesis to detect VLCAD in an unborn. Since VLCAD is caused by ACADVL gene mutations in bands found on the chromosome 17, we were wondering if carrying out a karyotype and sequencing chromosome 17 on the baby’s amniotic sample will allow for the detection of VLCAD.

Procedure:

1. Doctor injects a long, thin hollow needle into mother’s tummy and into baby’s amniotic sac. 
2. A small amount of amniotic fluid will be drawn.
3. Sample will be sent to laboratory to karyotype and isolate chromosome 17. 
4. Chromosome 17 will be examined further to see if there’s mutation on the p11.2 and p11.13105 bands. 

References:

babycenter (2012) Aminocentesis. [online] Available at: http://www.babycenter.com.sg/a327/amniocentesis#ixzz2Gzvjcnbr [Accessed: 9th January 2013]. 

Unknown. (n.d.) Untitled. [image online] Available at: http://www.modernmedicalguide.com/amniocentesis/ [Accessed: 9th January 2013].