NxGen MDx today announced the results of a 400-patient retrospective study comparing its  Non-Invasive Prenatal Test (NIPT) and Super Panel carrier screen for 147 autosomal recessive and X-linked conditions to a commercially available single-gene NIPT (sgNIPT) test that screens for 12 autosomal recessive conditions and 2 X-linked conditions.

The analysis modeled the published performance metrics of the 14-condition sgNIPT test in a real-world carrier couple population of 400 patients. Based on established carrier frequencies, approximately 100 affected pregnancies would be expected in such a cohort. NxGen’s combined workflow detected 400 out of 400 carrier couples (100% sensitivity), while the sgNIPT model would detected 63 out of 400 carrier couples (roughly 16 affected pregnancies), and therefore would have missed ~85% of affected pregnancies.

"This study clearly shows that when you look beyond a limited, less comprehensive single-gene NIPT panel and use a validated, broad-spectrum approach, you identify exponentially more at-risk pregnancies," said Alan Mack, CEO of NxGen MDx. "Our data reinforce what clinicians and professional societies already sense — sgNIPT simply isn’t ready for clinical adoption at the expense of proven carrier screening methodologies and workflows."

"From a commercial standpoint, this is the kind of clarity the market needs," said Greg Richard, Chief Commercial Officer of NxGen MDx. "Clinicians can now see, in hard numbers, that sgNIPT’s limited scope means real families could be left without critical insights. NxGen offers the complete picture — accurate, comprehensive, and actionable information for families."

Study Highlights 

See Media Gallery.

*Modeled using published sgNIPT validation data (Wynn et al., 2023; Vora et al., 2024) applied to a clinically relevant carrier couple population.

Professional Guidance on sgNIPT

National professional societies continue to discourage clinical use of single-gene cfDNA screening outside research contexts:

• ACOG – Practice Advisory (2019; reaffirmed 2024): “There has not been sufficient data to provide information regarding accuracy and predictive value in the general population. For this reason, single-gene cfDNA screening is not currently recommended in pregnancy.”

• ACMG – Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception (Genet Med 2021; 23:2015-2037): Recommends diagnostic confirmation and comprehensive counseling; current sgNIPT panels do not meet these clinical-utility standards.

• SMFM – Cell-Free DNA: Screening Is Not a Simple Blood Test (2015; reaffirmed 2023): Advises cfDNA for monogenic disorders remains investigational and should not replace diagnostic testing.

Conclusions

The NxGen MDx study confirms that comprehensive and validated carrier screening and outperform single-gene cfDNA screening by a wide margin — both in detection rates and clinical reliability. The results echo the consensus among ACOG, ACMG, and SMFM: sgNIPT’s clinical claims remain premature.