A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultra-sonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary find-ings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.
Introduction
Guidelines for CMA
Recommendations after the Positive Non-Invasive Prenatal test (NIPT)
Selection of the Platform for Prenatal CMA
Assessment of Quality Control (QC) Metrics and CNV Identification
Interpretation of Prenatal CMA Results and Genetic Counseling
Validation of Prenatal Specimens and Back-Up Culture
MCC and Mosaicism
Conclusion
References
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