BACKGROUND AND PURPOSE:

• Since screening for fetal chromosomal anomalies became clinically available in 2012, the use of amniocentesis and CVS continue to decline
• Ibraheem et al. (Amer J Perinatol, 2017) surveys the magnitude of decline and changes in indications for invasive prenatal testing over the past 6 years in a tertiary care setting

METHODS:

• Retrospective Cohort Study (2010 – 2015)
• The total number of patients choosing either option was determined per year
• Indications
  • Screen positive aneuploidy screening, advanced maternal age, abnormal ultrasound finding, personal or family history of genetic anomaly or other
• Advanced maternal age patients were offered (1) NIPS or (2) invasive testing or (3) routine NT screening
• Statistical analysis included logistic regression and chi-square test

RESULTS:

• The number of patients seeking genetic counseling did not decrease throughout the study period, but the number of invasive procedures declined steadily from 429 amnios and 154 CVs in 2010 to 72 amnios and 60 CVS in 2015 (p < 0.001)
• 61% of the study cohort had genetic counseling for advanced maternal age
• The percentage of patients opting for invasive procedures with AMA as the sole indication declined significantly from 38% in 2010 to 2% in 2015 (p < 0.0001)
• The rate of advanced maternal age women opting for NIPS increased markedly from 28% in 2012 to 91% in 2015 (p < 0.0001)
• The proportion of procedures performed due to advanced maternal age or aneuploidy screening declined significantly over time (p<0.001) at an average rate of 45% (95% CI: 36–55%)
• Aneuploidy screening (positive) as an indication
  • Invasive procedures declined from 139 to 21 (2010 – 2015)
• Advanced maternal age as an indication
  • Invasive procedures declined from 277 to 25 (2010 – 2015)

CONCLUSION:

• NIPS is not an alternative to diagnostic testing as it is only a screening test
• Even in ‘high’ risk populations such as advanced maternal age, patients are opting for screening with NIPS
• The authors raise concern regarding training for invasive procedures among the next generation of specialists
• Considering this trend, it is critical that women understand the difference between screening (NIPS) and diagnostics (amnio and CVS) for the purposes of informed decision making

Learn More – Primary Sources:

Changing Face of Invasive Diagnostic Testing in the Era of Cell-Free DNA

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Should Amniocentesis or Chorionic Villus Sampling Be Offered to All Pregnant Women?

Fetal loss after amnio or CVS – what is the risk ?

Does Amniocentesis or CVS Increase the risk of HIV Vertical Transmission?