Cell-free DNA testing, A is being seen in follow-up. She

Cell-free DNA testing

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Reference no: EM133858401

Question

The same 20-year-old G1P0 woman from Scenario A is being seen in follow-up. She opted for the cell-free DNA (cfDNA) testing, which returned positive for trisomy 18. The cystic fibrosis (CF) and spinal muscular atrophy (SMA) screens were negative. The patient is now at 14 weeks' gestation. The patient is referred for genetic counseling and fetal ultrasound. Although the ultrasound examination is limited by gestational age, the biometry is consistent with dates and with the prior ultrasound examination. No gross fetal anomalies are seen. The patient and her partner have been researching trisomy 18 on the Internet and are both tearful. They confirmed understanding that the cfDNA test had a performance of 97.4% sensitivity and 99.8% specificity for trisomy 18. They both state, "With these types of statistics, we don't see the need for further diagnostic testing. We're thinking about terminating the pregnancy based on the lab results."

How would you respond to this couple's statement? What diagnostic test would be an option at this point?

Reference no: EM133858401

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