-LOW RISK of the chromosomal disease
-HIGH RISK of the chromosomal disease
-The risk of chromosomal disease cannot be determined
Incidental findings can significantly affect maternal or fetal health and the functioning of the placenta until the end of pregnancy. Every incidental finding requires an individual approach and counseling. In rare cases, NIPTIFY can detect maternal chromosomal anomalies, which can indicate an existence of a tumor.
There is a high probability that the reported incidental finding occurs only in the placenta, and the fetus is healthy. In those cases, it only affects the course of pregnancy. For example, placental trisomy 16 can be accompanied by a developmental disorder of the placenta, which can lead to fetal growth restriction. Such pregnancies must be monitored more thoroughly to minimize the health risks for the mother and the fetus. If trisomy 16 is confirmed by a diagnostic test (amniocentesis) in a fetus, the pregnancy will likely end with a miscarriage.
If an incidental finding occurs in clinically relevant microdeletion regions, it is recommended to confirm the result by DNA-based diagnostic analysis (amniocentesis).
-1p36 deletion syndrome
-15q11-q13 duplication syndrome
-7q11.23 duplication syndrome
-Duchenne muscular dystrophy
-17q12 deletion syndrome
-Koolen-De Vries syndrome
-15q24 deletion syndrome
-3q29 deletion syndrome
-2q31.2 deletion syndrome
Why is NIPTIFY sometimes require retesting?
In rare cases, NIPTIFY Focus Plus cannot determine the risk of chromosomal diseases. Our prognosis shows this occurs in less than 0.1% of all patients after retesting. The reason for such cases is a high standard deviation in the results or low fetal cell-free DNA fraction in maternal blood. A low fetal fraction does not indicate a higher risk of chromosomal disease.
The low fetal DNA fraction can be caused by high maternal body mass index (BMI higher than 30). Premature testing, asymptomatic viral infections, or other biological and technical factors can cause low fetal DNA fraction. Fetal cell-free DNA fraction increases as the pregnancy progress and does not depend on the volume of the blood sample. In case of a low fetal fraction, we recommend giving another blood sample (retest), which is free for the patient.