Journal Article

Cost and efficacy comparison of prenatal recall and reflex DNA screening for trisomy 21, 18 and 13

Wald, Nicholas John, Bestwick, Jonathan Paul

2019

Overview

To compare costs and efficacy of reflex and recall prenatal DNA screening for trisomy 21, 18 and 13 (affected pregnancies). In both methods women have Combined test markers measured. With recall screening, women with a high Combined test risk are recalled for counselling and offered a DNA blood test or invasive diagnostic testing. With reflex screening, a DNA analysis is automatically performed on plasma collected when blood was collected for measurement of the Combined test markers. Published data were used to estimate, for each method, using various unit costs and risk cut-offs, the cost per woman screened, cost per affected pregnancy diagnosed, and for a given number of women screened, numbers of affected pregnancies diagnosed, unaffected pregnancies with positive results, and women with unaffected pregnancies having invasive diagnostic testing. Cost per woman screened is lower with reflex v recall screening: £37 v £38, and £11,043 v £11,178 per affected pregnancy diagnosed (DNA £250, Combined test markers risk cut-off 1 in 150). Reflex screening results in similar numbers of affected pregnancies diagnosed, with 100-fold fewer false-positives and 20-fold fewer women with unaffected pregnancies having invasive diagnostic testing. Reflex DNA screening is less expensive, more cost-effective, and safer than recall screening.

• Publisher: Public Library of Science,Public Library of Science (PLoS)
• Subject: Adult / Aftercare - economics / Aftercare - methods / Amniocentesis / Biology and Life Sciences / Biomarkers - blood / Blood / Blood tests / Cost estimates / Cost-Benefit Analysis / Dentistry / Deoxyribonucleic acid / Diagnosis / Diagnostic systems / Diagnostic tests / DNA / Down syndrome / Down Syndrome - diagnosis / Down Syndrome - economics / Down Syndrome - epidemiology / Down Syndrome - genetics / Duty to Recontact / EDTA / False Positive Reactions / Female / Genetic screening / Genetic testing / Genetic Testing - economics / Genetic Testing - methods / Genetic Testing - statistics & numerical data / Human chromosome abnormalities / Humans / Markers / Maternal Age / Maternal Serum Screening Tests - economics / Maternal Serum Screening Tests - methods / Maternal Serum Screening Tests - statistics & numerical data / Medical tests / Medicine and Health Sciences / Methods / Plasma / Pregnancy / Pregnancy Trimester, First - blood / Pregnant women / Prenatal diagnosis / Prenatal Diagnosis - economics / Prenatal Diagnosis - methods / Prenatal Diagnosis - statistics & numerical data / Prevalence / Preventive medicine / Recall / Refusal to Participate - statistics & numerical data / Research and Analysis Methods / Risk / Trisomy / Trisomy 13 Syndrome - diagnosis / Trisomy 13 Syndrome - epidemiology / Trisomy 13 Syndrome - genetics / Trisomy 18 Syndrome - diagnosis / Trisomy 18 Syndrome - economics / Trisomy 18 Syndrome - epidemiology / Trisomy 18 Syndrome - genetics / Ultrasonic imaging / Women