CPT® Code 81507

Fetal aneuploidy (trisomy 21, 18, and 13) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy

The CPT® Code 81507 pertains to the non-invasive detection of fetal aneuploidy, specifically targeting trisomies 21, 18, and 13. This procedure involves the analysis of fetal DNA that is shed from the placenta and circulates within the maternal plasma. By utilizing advanced sequencing techniques, such as shotgun sequencing, multiplex ligation-dependent probe amplification (MLPA), and digital polymerase chain reaction (digital PCR), healthcare professionals can assess the risk of these chromosomal abnormalities. The algorithm generated from this analysis provides a risk score for each trisomy, offering a more accurate assessment compared to traditional methods that rely on maternal age and biochemical markers, including human chorionic gonadotropin (hCG), unconjugated estriol, alpha-fetoprotein, inhibin A, or pregnancy-associated plasma protein A (PAPP-A). While these conventional tests are often conducted initially, the results may lead to subsequent DNA sequencing for a more definitive risk evaluation. The implementation of non-invasive screening significantly reduces the necessity for more invasive diagnostic procedures, such as chorionic villus sampling and amniocentesis, which carry higher risks for both maternal and fetal complications.