nipt screening&high risk pregnancy

Kerri

Has anyone got there results back saying low risk for genetic abnormalities and results not available (presuming due to high ratio like instead of 1/10000 it’s 1/240)

mosaic monosomy chromosome

Do not carry the xx chromosome

Cannot determine the fetus due to maternal mosacisim or maternal chromosome abnormality

I’m a carrier for usher syndrome

Low risk for:

trisonomy 13, 18,22

Triploidy

Deletion syndrome

Turner syndrome

Screening for myself and baby showed the carrier for usher syndrome, low risk fragile x syndrome, spinal musical atrophy (2copies, silent carrier)

The gender cannot be determined as there was only 10.2% detected of baby and the rest were detected from my chromosomes and genetics.

Was a little upset I couldn’t determine gender but cannot be determined until third trimester or birth.

Had anyone went thru this?

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