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Trisomy 18 Markers
erikabeers posted:
Hi there,

I'm 28 and pregnant for the first time. Yesterday, my OB/GYN called me to inform me that the quad screening test came back with a 1:21 chance that our baby has trisomy 18, a lethal genetic disorder. Obviously, my husband and I are terrified about this possibility, and if anyone has any resources they'd like to share or stories, I'd welcome them.

A few questions: The doctor's office set up and appointment for July 19th, 23 days from the day they told me about the results. I called the specialist because it seems insane to wait that long, especially because I am 17 weeks pregnant now, and they said they didn't have any openings and that when we spoke to the genetic counselor, they would see to it that we were scheduled for amniocentesis before July 19th. It seems crazy to me that they would scheduled the amniocentesis before the ultrasound, as its rather invasive. Should I insist that they perform the ultrasound first to look for soft markers for trisomy 18? Does anyone know if the amnio will give us definitive results or how they might use the ultrasound to determine our risk based on soft markers?

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