Conclusions

• When one or more fetal anomalies are detected by ultrasound, more genetic changes affecting anatomy, development or function can be identified using Chromosomal microarray analysis (CMA) than through karyotyping, QF-PCR or FISH analysis¹. This applies in particular to anomalies detected in the heart or if the anomalies were detected in more than one organ system.
• Few additional genetic changes a ecting anatomy, development or function are identi ed using CMA beyond those detected through karyotyping when the reason for testing is:

  • advanced age of the pregnant woman
  • parental anxiety
  • high probability of chromosomal abnormality based on maternal serum screening.
• CMA reveals more genetic changes with un- clear signicance to anatomy, development or function compared to karyotyping, QF-PCR or FISH analysis.
• For genetic changes that can be resolved with karyotyping, QF-PCR or FISH analysis, CMA has the same diagnostic accuracy as the reference test.
• CMA can provide extensive information on an individual’s genetic makeup. It is therefore of utmost importance that the information obtained is used in an ethically acceptable manner. Due to the extensive and complex nature of the genetic information this test can provide, great care and attention is required when presenting the results to the clients to ensure the results are fully understood. This is particularly true when presenting unclear or unexpected findings, or when the findings relate to genetic deviations that impact the future health of the child to varying degrees.
• Additional well-conducted studies are needed to investigate how expectant parents perceive the value of the information that CMA can provide.

¹ QF-PCR and FISH analysis are two rapid diagnostic methods.