1574 – Non-Invasive Prenatal Testing (NIPT) for fetal Rhesus D genotype

New MBS item(s).

Cell-free fetal DNA (cffDNA) present in the maternal circulation is detected by high-throughput non-invasive prenatal testing (HT-NIPT), using real-time quantitative polymerase chain reaction (PCR). HT-NIPT is used to determine the RhD genotype of a fetus carried by a RhD-negative woman by detecting the presence of cffDNA fragments in the mother’s plasma. The presence of RhD-positive cffDNA would indicate the presence of a RHD gene, which suggests a RhD-positive fetus.

Type: Investigative

Approximately one in seven women has a rhesus (Rh) D-negative blood group. RhD negative women carrying an RhD-positive fetus are at risk of becoming sensitised, producing antibodies against the RhD antigen if fetal cells enter the maternal circulation. Sensitisation places the RhD-positive fetus and future RhD-positive pregnancies at risk of haemolytic disease of the fetus and newborn (HDFN). If undiagnosed and/or untreated, HDFN carries significant risk of perinatal morbidity and mortality.1 In Australia, the current standard of care is the routine administration anti-D immunoglobulin to all RhD negative pregnant women at 28 and 34 weeks’ gestation, and within 72 hours of delivery of an RhD-positive fetus, or following other obstetric events associated with a risk of fetal-to-maternal haemorrhage.

• PASC meeting: 11 April 2019
• ESC meeting: 8 to 9 October 2020
• MSAC meeting: 
  • 26 to 27 November 2020
  • 4 December 2023