NIPT

Description of Event or Problem

THIS IS IN REGARDS TO THE PANORAMA NIPT SCREENING TEST. THIS IS MY STORY: THE ONLY SCREENING WE CHOSE TO DO IN MY PREGNANCY WAS ORIGINALLY THE NIPT TRISOMY 13, 18 AND 21. WHEN WE RECEIVED THE FORM FOR THE NIPT, I CHECKED OFF THE MICRODELETION TEST BOXES THINKING "WHY NOT?", WELL NOW I KNOW WHY I WOULD NEVER CHECK OFF THOSE BOXES AGAIN. THE TEST RESULTS CAME BACK FINE FOR TRISOMY 13/18/21 BUT WITH "HIGH RISK" (1 IN 19 CHANCE) FOR DIGEORGE MICRODELETION 22Q11. I WAS VERY STRESSED ABOUT THIS RESULT AND WE DECIDED TO HAVE THE AMNIO AFTER HAVING MET WITH A GENETICS COUNSELOR. THE FIRST THING SHE SAID WAS THAT SHE TELLS ALL PEOPLE SHE'S COUNSELING TO NOT GET THE MICRODELETION TESTS WHICH HAVE A (B)(4) FALSE POSITIVE RATE. IN MY RESEARCH (AFTER I HAD THE TEST), I ALSO SAW A POST BY AN OBGYN WHO SAID THEY DO NOT ALLOW THESE MICRODELETION TESTS TO BE DONE IN THEIR CLINIC - ONLY TRISOMY. IT IS RIDICULOUS THAT THIS TEST CAN EVEN GO TO THE MARKET. THE AMNIO WENT WELL AND IT TOOK 10 DAYS FOR THE MICRODELETION TESTS TO COME IN. I RECEIVED THE CALL AND IT TURNS OUT IT WAS YET ANOTHER FALSE POSITIVE. THIS WAS A VERY TRAUMATIC EXPERIENCE. AFTER ALL MY RESEARCH, I WOULD NEVER HAVE THE MICRODELETION NIPT TEST AGAIN, NOR DO I FEEL IT SHOULD BE OFFERED WITH SUCH A LOW RATE OF ACCURACY.