Maternal serum screening for Down's syndrome in early pregnancy.
The possibility of improving the effectiveness of antenatal screening for Down's syndrome by measuring human chorionic gonadotrophin concentrations in maternal serum during the second trimester to select women for diagnostic amniocentesis was examined. The median maternal serum human chorionic gonadotrophin concentration in 77 pregnancies associated with Down's syndrome was twice the median concentration in 385 unaffected pregnancies matched for maternal age, gestational age, and duration of storage of the serum sample. Measuring human chorionic gonadotrophin in maternal serum was an effective screening test, giving a lower false positive rate (3%) at a 30% detection rate than that for maternal age (5%) and the two existing serum screening tests, unconjugated oestriol (7%) and alpha fetoprotein (11%). The most effective screening results were obtained with all four variables combined; at the same 30% detection rate the false positive rate declined to 0.5%. The new screening method would detect over 60% of affected pregnancies, more than double that achievable with the same amniocentesis rate in existing programmes (5%), and could reduce the number of children born with Down's syndrome in the United Kingdom from about 900 a year to about 350 a year.
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
These references are in PubMed. This may not be the complete list of references from this article.
- Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Canick JA, Haddow JE, Knight GJ, Palomaki GE. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol. 1988 Apr;95(4):334–341. [PubMed] [Google Scholar]
- Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn. 1987 Nov;7(9):623–630. [PubMed] [Google Scholar]
- Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome. Br J Obstet Gynaecol. 1988 Apr;95(4):330–333. [PubMed] [Google Scholar]
- Benacerraf BR, Gelman R, Frigoletto FD., Jr Sonographic identification of second-trimester fetuses with Down's syndrome. N Engl J Med. 1987 Nov 26;317(22):1371–1376. [PubMed] [Google Scholar]
- Lockwood C, Benacerraf B, Krinsky A, Blakemore K, Belanger K, Mahoney M, Hobbins J. A sonographic screening method for Down syndrome. Am J Obstet Gynecol. 1987 Oct;157(4 Pt 1):803–808. [PubMed] [Google Scholar]
- Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol. 1987 May;94(5):387–402. [PubMed] [Google Scholar]