Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials.
OBJECTIVE
The clinical application of first-trimester aneuploidy screening remains controversial in the United States. The aim of our study was to evaluate the performance of maternal age, fetal nuchal translucency measurements, pregnancy-associated plasma protein A, and free beta-human chorionic gonadotrophin used in aneuploidy screening in a single institution outside of a clinical trial.


METHODS
Four thousand eight hundred eighty three patients underwent first-trimester aneuploidy screening at 11 to 13 6/7 weeks of gestation (fetal crown-rump length 45 mm to 84 mm) at our institution between January 2003 and September 2004. Measurement of nuchal translucency was performed according to the Fetal Medicine Foundation standards and was included in the overall risk assessment performed by NTD Laboratories. Measurement of pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin on maternal dried whole blood samples was conducted by NTD Laboratories and was reported as gestational-specific multiples of the median adjusted for ethnicity. Risk adjustment for trisomy 21 and trisomy 18 was done with a standard algorithm using maternal age, serum biochemistry, and nuchal translucency. Only singleton gestations (N = 4615) were included in the analysis.


RESULTS
The median maternal age was 33.0 years (interquartile range 31.0 to 36.0) and the median crown-rump length was 61.2 mm (interquartile range 55.7 to 67.2) at the time of screening. There were a total of 22 fetuses diagnosed with trisomy 21 and 8 with trisomy 18. The detection rates for trisomy 21 for a 5% false-positive rate and 1% false-positive rate were 90.9% (20 of 22) and 77.3% (17 of 22), respectively. Similarly, the detection rates for trisomy 18 at a 5% false-positive rate and a 1% false-positive rate were 100% (8 of 8) and 100% (8 of 8), respectively.


CONCLUSIONS
Non-investigational use of first-trimester aneuploidy screening for trisomy 21 and trisomy 18 can replicate results from investigational trials.
Perni
Sriram C
SC
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA. scperni@yahoo.com
Predanic
Mladen
M
Kalish
Robin B
RB
Chervenak
Frank A
FA
Chasen
Stephen T
ST
D000782:Aneuploidy; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002887:Chromosomes, Human, Pair 18; D002986:Clinical Trials as Topic; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D005189:False Positive Reactions; D005260:Female; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008423:Maternal Age; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D014481:United States
D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A