An economic evaluation of prenatal strategies for detection of trisomy 18.
OBJECTIVE
The objective of this study was to perform an economic evaluation of prenatal diagnostic strategies for women who are at increased risk for fetal trisomy 18 caused by either fetal choroid plexus cysts discovered in a conventional sonogram or an abnormal triple screen.


METHODS
The prevalence of trisomy 18 in the presence of second-trimester fetal choroid plexus cysts and also in the presence of abnormal triple screen were made on the basis of previously reported studies. A cost/benefit analysis and cost-effectiveness determination of 3 strategies were performed: (1) no prenatal diagnostic workup of at-risk patients, (2) universal genetic amniocentesis of all at-risk patients, and (3) universal second-trimester targeted genetic ultrasonography of all at-risk patients with amniocentesis (for fetal karyotyping) reserved only for those with abnormal ultrasonography results.


RESULTS
The strategy of no prenatal diagnostic workup was the least expensive approach, costing $1,650,000 annually in the United States. The more costly approach was the strategy of universal amniocentesis for detecting fetal trisomy 18 in the presence of either second-trimester choroid plexus cysts or abnormal maternal serum screening, generating an annual cost of approximately $12 million and 40 fetal losses as a result of amniocenteses. The strategy of targeted genetic ultrasonography generated an annual cost of only $5 million and 8 fetal losses as a result of amniocenteses.


CONCLUSIONS
Routine second-trimester amniocentesis in patients at increased risk for fetal trisomy 18 caused by either the presence of fetal choroid plexus cysts or abnormal triple screening is not justified from the cost/benefit point of view.
Vintzileos
A M
AM
Division of Maternal-Fetal Medicine, The Center for Perinatal Health Initiatives, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Medicine and Dentistry of New Jersey, New Brunswick, NJ, USA.
Ananth
C V
CV
Fisher
A J
AJ
Smulian
J C
JC
Day-Salvatore
D
D
Beazoglou
T
T
Knuppel
R A
RA
D000649:Amniocentesis; D001927:Brain Diseases / Q000235:genetics; D002831:Choroid Plexus; D002887:Chromosomes, Human, Pair 18; D003362:Cost-Benefit Analysis; D003560:Cysts / Q000235:genetics; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000191:economics / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000191:economics*; D012307:Risk Factors; D014314:Trisomy; D016216:Ultrasonography, Prenatal