Research is ongoing in a hope that there will one day be a blood test that will be able to identify fetal cells to determine the presence of genetic abnormality without the need for an invasive procedure that carries undesirable risk.
Hirschsprung's disease, also known as congenital megacolon or aganglionic megacolon, is an abnormality in which certain nerve fibers are absent in segments of the bowel, resulting in severe bowel obstruction.
If the abnormality is discovered before the birth, the obstetrician can help the parents decide what steps should be taken, and parents can begin to plan to meet the special needs their child will have.
MERFF is a mitochondrial encephalomyopathy in which a mitochondrial defect as well as a tissue abnormality called "ragged-red fibers" (an accumulation of diseased mitochondria) is found microscopically.
The x-ray shows a slight abnormality in your spine, which explains the pain you've been experiencing.