Go for NIPT expanded panel
Here is our story. Like everyone else we have went through NIPT carrier screening and everything came back low risk and we have no idea about expanded panel availability. Now the baby got delivered but baby has a rare genetic mutation causing Albinism. This is a surprise for us since none of our family histories has this kind of issue. We got to know that regular NIPT carrier screening will only look for life threatening, chromosomal abnormalities and some related Down syndrome conditions but nobody has mentioned about the expanded panel which includes around 250+ chromosomal and genetic carrier screening, also it doesn’t cost much extra, please check with Natera/obgyn. We had a miscarriage before but the obgyn doctor mentioned unless there are two miscarriages I won’t recommend extensive testing. I know albinism is very rare but my suggestion is to still get the expanded panel done.
Nobody wants a welcome a baby knowing baby will have issues for life, this is not just a life of the kid but lifetime prison for the parent growing that baby all along. Its better leave off that pain rather than bearing for life long seeing the kid grow with issues.
My another recommendation is to go for pre conceive counseling and carrier screening before you plan for pregnancy, discuss with your obgyn. Husband or wife might think if we go through expanded genetic screening and it might give you some problems which you might feel you are having fault in your partners eye , Yes that’s true but having a baby is a team play, both players have to give their best and run through life.
Hope my story helps someone getting rid of unhealthy pregnancy and move forward hoping for healthy one/ go for IVF instead.
#Albinism #Nipt