Low PPAP-A level

Question

Hi everyone, I just gotten back my results for FTS. Although the structure scans are normal, my PPAP-A is very low (0.19 MoM) which increases the risk of trisomy 21. Currently, I am still waiting for the results from my HARMONY/NIPT test. However, I was told that even if my Harmony/NIPT test indicates that it’s low risk for trisomy 21, my baby would still have risk of developing other genetic diseases (that is not tested in NIPT) due to my super low PPAP-A level. Anyone had similar experience? Advice needed, thanks;(((    #firsttimemom

Vô danh · Answer

If the PAPP-A levels in your first trimester screening are low, it may indicate an increased risk of certain chromosomal abnormalities or birth defects. Some of the genetic disorders that your baby could potentially have if your PAPP-A level is low include: Down syndrome (trisomy 21) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Turner syndrome Klinefelter syndrome It's important to keep in mind that a low PAPP-A level is just one factor that is used to assess the overall risk, and it does not necessarily mean that your baby has any of these disorders. Additional testing, such as an ultrasound or a detailed anomaly scan, may be needed to confirm the presence of a genetic disorder.