Skip to main content
NCBI home page
The BMJ logoLink to The BMJ
. 1991 Sep 7;303(6802):551–553. doi: 10.1136/bmj.303.6802.551

Screening for Down's syndrome based on individual risk.

M Lewis 1, M J Faed 1, P W Howie 1
PMCID: PMC1670854  PMID: 1717087

Abstract

OBJECTIVE--To evaluate the effectiveness of biochemical screening of individual pregnancies for Down's syndrome risk. DESIGN--Retrospective determination of risk. SETTING--Obstetric and cytogenetic services in Tayside, Scotland. SUBJECTS--3436 pregnant women who had screening for neural tube defects in the second trimester during November 1988 to March 1990 and whose pregnancies were dated by ultrasonography. Three women with pregnancies associated with Down's syndrome reported later in 1990. MAIN OUTCOME MEASURES--Individual risk calculated from age at estimated date of delivery; chorionic gonadotrophin and alpha fetoprotein concentrations in serum samples obtained at precisely determined gestational ages in second trimester. Results of karyotype determination and outcome of pregnancy. RESULTS--During November 1988 to March 1990 karyotypes were determined for 5% of pregnancies for reasons of maternal age and genetic history and one of the eight affected fetuses was detected. Individual risk could not be calculated for 347 pregnancies, but screening on this basis would have detected five of the cases and required screening in 194 out of 3089 (6.3%) pregnancies; all three affected pregnancies reported later in 1990 would also have been detected, giving a success rate of 73% (95% confidence interval 39% to 94%). The age distribution of women according to individual risk suggests that women over 35 would be screened effectively. CONCLUSION--Screening based on individual risk would use resources more effectively than screening based on maternal age and genetic history without affecting detection rates in older women.

Full text

PDF
551

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bogart M. H., Pandian M. R., Jones O. W. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn. 1987 Nov;7(9):623–630. doi: 10.1002/pd.1970070904. [DOI] [PubMed] [Google Scholar]
  2. Canick J. A., Knight G. J., Palomaki G. E., Haddow J. E., Cuckle H. S., Wald N. J. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome. Br J Obstet Gynaecol. 1988 Apr;95(4):330–333. doi: 10.1111/j.1471-0528.1988.tb06601.x. [DOI] [PubMed] [Google Scholar]
  3. Cuckle H. S., Wald N. J., Thompson S. G. 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. doi: 10.1111/j.1471-0528.1987.tb03115.x. [DOI] [PubMed] [Google Scholar]
  4. Macri J. N., Kasturi R. V., Krantz D. A., Cook E. J., Moore N. D., Young J. A., Romero K., Larsen J. W., Jr Maternal serum Down syndrome screening: free beta-protein is a more effective marker than human chorionic gonadotropin. Am J Obstet Gynecol. 1990 Oct;163(4 Pt 1):1248–1253. doi: 10.1016/0002-9378(90)90700-h. [DOI] [PubMed] [Google Scholar]
  5. Mancini G., Perona M., Dall'Amico D., Bollati C., Albano F., Mazzone R., Rosso M., Carbonara A. O. Screening for fetal Down's syndrome with maternal serum markers--an experience in Italy. Prenat Diagn. 1991 Apr;11(4):245–252. doi: 10.1002/pd.1970110406. [DOI] [PubMed] [Google Scholar]
  6. Merkatz I. R., Nitowsky H. M., Macri J. N., Johnson W. E. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol. 1984 Apr 1;148(7):886–894. doi: 10.1016/0002-9378(84)90530-1. [DOI] [PubMed] [Google Scholar]
  7. Nørgaard-Pedersen B., Larsen S. O., Arends J., Svenstrup B., Tabor A. Maternal serum markers in screening for Down syndrome. Clin Genet. 1990 Jan;37(1):35–43. doi: 10.1111/j.1399-0004.1990.tb03388.x. [DOI] [PubMed] [Google Scholar]
  8. Stevenson J. D., Chapman R. S., Perry B., Logue F. C. Evaluation and clinical application of a two-site immunoradiometric assay for alpha-1-foetoprotein using readily available reagents. Ann Clin Biochem. 1987 Jul;24(Pt 4):411–418. doi: 10.1177/000456328702400411. [DOI] [PubMed] [Google Scholar]
  9. Suchy S. F., Yeager M. T. Down syndrome screening in women under 35 with maternal serum hCG. Obstet Gynecol. 1990 Jul;76(1):20–24. [PubMed] [Google Scholar]
  10. Wald N. J., Cuckle H. S., Densem J. W., Nanchahal K., Royston P., Chard T., Haddow J. E., Knight G. J., Palomaki G. E., Canick J. A. Maternal serum screening for Down's syndrome in early pregnancy. BMJ. 1988 Oct 8;297(6653):883–887. doi: 10.1136/bmj.297.6653.883. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Walker E. M., Lewis M., Cooper W., Marnie M., Howie P. W. Occult biochemical pregnancy: fact or fiction? Br J Obstet Gynaecol. 1988 Jul;95(7):659–663. doi: 10.1111/j.1471-0528.1988.tb06526.x. [DOI] [PubMed] [Google Scholar]

Articles from BMJ : British Medical Journal are provided here courtesy of BMJ Publishing Group

RESOURCES