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Evidence Library · Diagnostic testing

What a diagnostic test can find that screening cannot

And the uncertain findings nobody warns you about.

Diagnostic samples can be analysed by karyotype, which looks at whole chromosomes, or by chromosomal microarray, which looks at much smaller pieces. Microarray finds more, including findings whose meaning is not known.

In interviews with 23 women who received an abnormal microarray result, the themes were described by the researchers as "an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge."

Ask before the sample is taken"Which analysis will be run, and can it return a result whose meaning is unknown?" You can often choose. Deciding in advance is far easier than deciding after a result arrives.
Where this comes from:
157. Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013;15(2):139-145.

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This page is educational. It supports the conversation with your own clinicians. It is not consent to any treatment, and it cannot assess you. If you are worried about a symptom now, see urgent warning signs.