Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Down's syndrome

作者：Bestwick Jonathan P^*; Wald Nicholas J

来源：Journal of Medical Screening, 2016, 23(4): 171-174.

DOI：10.1177/0969141315617982

• Down's syndrome
• trisomy 18
• trisomy 13
• antenatal screening
• DNA analysis
• reflex testing
• maternal plasma

Objective Antenatal reflex DNA screening for Down's syndrome has a high screening performance. We aimed to determine the performance of trisomy 18 and trisomy 13 reflex DNA screening when added to Down's syndrome screening.
Methods In our modelled screening protocol, women provide two samples: a serum sample for a Combined test and a plasma sample for a possible DNA test. Women with Down's syndrome, trisomy 18, or trisomy 13 Combined test risks above a single cut-off have a reflex DNA test using the plasma sample, without the need to recall them to collect another sample and provide counselling. Women with a failed DNA test (after a second attempt using a fresh plasma sample) have an Integrated test, and are classified as positive if any of the Down's syndrome, trisomy 18, or trisomy 13 Integrated test risks are greater than 1 in 25.
Results At 1 in 800 term risk cut-offs for Down's syndrome, trisomy 18, and trisomy 13, an estimated 10% of women are reflexed to DNA screening, yielding a 91% Down's syndrome detection rate, an 89% trisomy 18 detection rate, and a 79% trisomy 13 detection rate for a 0.05% false-positive rate. At a 1 in 1900 term risk cut-off for Down's syndrome, trisomy 18, or trisomy 13, an estimated 20% of women are reflexed to DNA screening, and this yields a 94% Down's syndrome detection rate, a 92% trisomy 18 detection rate, and an 84% trisomy 13 detection rate for a 0.10% false-positive rate.
Conclusion Reflex DNA screening for trisomies 18 and 13 can be usefully added to reflex DNA screening for Down's syndrome.

• 出版日期2016-12