FIRST TRIMESTER SCREENING FOR ANEUPLOIDY: MAY COMBINED TEST AND FETAL DNA WORK TOGETHER?
The Journal of Maternal-Fetal & Neonatal Medicine
Article by Dr. Stella Capriglione, Dr. Silvia Latella, Dr. Giovanna De Felice, Dr. Maurizio Filippini and Dr. Miriam Farinelli published in The Journal of Maternal-Fetal & Neonatal Medicine in November 2020.
First article in the world on the use of a combined screening test based on the measurement of nuchal translucency, assay of protein A, free human chorionic gonadotropin b and maternal age associated with pregnancy
and fetal DNA screening (NIPS) for trisomies 21 (T21), 18 (T18) and 13 (T13), and which demonstrated that DNA screening for trisomies 21, 18 and 13 achieved a detection rate of 100% with a false positive rate of 0.02%, passing the traditional combined test with 75% sensitivity and 4.7% false positive rate.
Fetal DNA screening can be successfully implemented in routine care, achieving a high detection rate, a low false positive rate, and consequently greater safety with less invasiveness than other diagnostic tests or other screening methods.