hi there. I'm 41 year old this year and I did both FTS and NIPT(harmony test). harmony test will reveal the gender of baby ( you can opt to hide this data if you wish to not know), then there is sex chromosome aneuploidy panel and 22q11.2 deletion.
Sex chromosome aneuploidy (SCA) is a condition where a person has an abnormal number of X or Y chromosomes. SCAs can cause developmental issues, including learning differences, and can increase the risk of mental illness.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly.
The term 22q11.2 deletion syndrome covers terms once thought to be different conditions. These terms include DiGeorge syndrome, velocardiofacial syndrome and other conditions caused by the same missing part of chromosome 22.
all results are based on probability and yes it is to prepare you to receive your child in the months to come. with high probability is not a guarantee that baby will have either of the stated conditions.
the definitive test for chromosome abnormalities will be Amniocentesis and it is an invasive procedure that detect chromosomal abnormalities in a fetus. It's usually performed between 16 and 20 weeks of pregnancy with a guided needle. all tests are optional and for the purpose of how much you like to know to manage possibilities. I will likely be opting to do amniocentesis as it is my husband and my decision to clear our concern and be prepared to receive the new life to our lives and preparing for possibilities of long term support if baby is positive for any of the conditions.
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