Genome‐wide non‐invasive prenatal screening for all cytogenetically visible imbalances

What is it about?

Non-invasive prenatal screening is being expanded to look at all possible large chromosome imbalances. However, many of these are only present in the placenta and are not present in the fetus. Their clinical significance is often unclear. We consider how often these might be encountered, additional testing required, and counseling difficulties associated with their discovery.

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