basically, my sister was told this morning that her baby has chromosome 18.
It was apparently written as a small note on the bottom of her NT scan that her baby has it, but her risk factor for it was very small.
She had her morphology scan done 2 weeks ago and everything was apparently fine. She is having a girl.
She went to the maternity ward early this morning after having cramps most of last night and it was there that the GP/OBGYN told her that this is what her baby has and she is going into labour with what will be a stillborn baby due to chromosome 18.
She also told her that babies with chromosome 18 issues usually appear fine in the morphology scan but die and come out stillborn and that they won't know anything more until the baby is born.
Because she is 21 almost 22 weeks, she was told she is too far along for amnio and obviously way too far along for CVS. A different GP/OBGYN told her that the baby looks perfectly fine in the morphology scan, as did the sonographer (not that they would really say anything, anyway.)
It's just so confusing. My sister is absolutely beside herself with worry.
Every person has 2 chomosome 18s. You get two copies of every chromosome. Having 3 copies of a chromosome or only one copy can cause issues, but this is usually diagnosed via CVS or amnio. There can also be a segment of the chromosome missing or extra. They can do amnio up to just before birth.
She needs to ask for a second opinion, or get a genetic counsellor or social worker (in a smaller hospital) to find out and explain what is happening.
She definately needs a second opinion. I had an amnio at 23wks with Emmanuel, if they picked up T18 at 18wks why on earth didn't they tell her and send her for an amnio then and organize genetic counselling. I really feel for your sister, doesn't sound like she has been looked after medically.
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