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. 1993 Sep 25;307(6907):764–769. doi: 10.1136/bmj.307.6907.764

Prospective study of prenatal screening for Down's syndrome with free beta human chorionic gonadotrophin.

K Spencer 1, P Carpenter 1
PMCID: PMC1696422  PMID: 7693095

Abstract

OBJECTIVE--To assess the value and impact of a screening programme for Down's syndrome that uses the two maternal serum markers: alpha fetoprotein and free beta human chorionic gonadotrophin. DESIGN--All women booked into clinics were screened. Further tests were offered to women with a risk of one in 300 or greater of having an affected baby. Follow up of outcome of all pregnancies. SETTING--Biochemical screening laboratory serving two health districts. SUBJECTS--8179 women of all ages with singleton pregnancies screened between 15 and 22 weeks' gestation from 1 April 1991 to 31 March 1992. MAIN OUTCOME MEASURES--Detection rate of Down's syndrome, false positive rate, uptake of screening, uptake of amniocentesis in women identified as at increased risk, prevalence of Down's syndrome at birth. RESULTS--Overall 89% (8317/9345) of women underwent screening. The rate of detection of Down's syndrome was 69% (11/16; 95% confidence interval 41 to 89%) with a 5.2% false positive rate (426/179; 4.7 to 5.7%). In women under 30 the detection rate was 50% (four out of eight; 32 to 86%) Uptake of amniocentesis was 89% (389/437), resulting in a reduction of prevalence of Down's syndrome at birth from 1.1 per 1000 in previous years (66/59,696) to 0.4 per 1000 during the screening year (4/9345). Additionally, several other abnormalities were identified. CONCLUSION--The benefit of a high detection rate with this approach and the additional anomalies identified should encourage others to introduce screening programmes for Down's syndrome that use free beta human chorionic gonadotrophin and alpha fetoprotein.

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Selected References

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  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. Cheng E. Y., Luthy D. A., Zebelman A. M., Williams M. A., Lieppman R. E., Hickok D. E. A prospective evaluation of a second-trimester screening test for fetal Down syndrome using maternal serum alpha-fetoprotein, hCG, and unconjugated estriol. Obstet Gynecol. 1993 Jan;81(1):72–77. [PubMed] [Google Scholar]
  4. Crossley J. A., Aitken D. A., Connor J. M. Second-trimester unconjugated oestriol levels in maternal serum from chromosomally abnormal pregnancies using an optimized assay. Prenat Diagn. 1993 Apr;13(4):271–280. doi: 10.1002/pd.1970130406. [DOI] [PubMed] [Google Scholar]
  5. Cuckle H. S., Wald N. J., Lindenbaum R. H. Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet. 1984 Apr 28;1(8383):926–929. doi: 10.1016/s0140-6736(84)92389-4. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. Cuckle H., Lilford R. Antenatal screening for Down's syndrome. BMJ. 1992 Oct 24;305(6860):1017–1017. doi: 10.1136/bmj.305.6860.1017. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Haddow J. E., Palomaki G. E., Knight G. J., Williams J., Pulkkinen A., Canick J. A., Saller D. N., Jr, Bowers G. B. Prenatal screening for Down's syndrome with use of maternal serum markers. N Engl J Med. 1992 Aug 27;327(9):588–593. doi: 10.1056/NEJM199208273270902. [DOI] [PubMed] [Google Scholar]
  9. 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]
  10. Macri J. N., Spencer K., Anderson R. W., Cook E. J. Free beta-chorionic gonadotropin: a cross-reactivity study of two immunometric assays used in prenatal maternal serum screening for Down's syndrome. Ann Clin Biochem. 1993 Jan;30(Pt 1):94–98. doi: 10.1177/000456329303000117. [DOI] [PubMed] [Google Scholar]
  11. 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]
  13. Parsons L., Richards J., Garlick R. Screening for Down's syndrome. BMJ. 1992 Nov 14;305(6863):1228–1228. doi: 10.1136/bmj.305.6863.1228-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Phillips O. P., Elias S., Shulman L. P., Andersen R. N., Morgan C. D., Simpson J. L. Maternal serum screening for fetal Down syndrome in women less than 35 years of age using alpha-fetoprotein, hCG, and unconjugated estriol: a prospective 2-year study. Obstet Gynecol. 1992 Sep;80(3 Pt 1):353–358. [PubMed] [Google Scholar]
  15. Reynolds T. M., Penney M. D. The mathematical basis of multivariate risk screening: with special reference to screening for Down's syndrome associated pregnancy. Ann Clin Biochem. 1990 Sep;27(Pt 5):452–458. doi: 10.1177/000456329002700506. [DOI] [PubMed] [Google Scholar]
  16. Reynolds T., John R. Comparison of assay kits for unconjugated estriol shows that expressing results as multiples of the median causes unacceptable variation in calculated risk factors for Down syndrome. Clin Chem. 1992 Sep;38(9):1888–1893. [PubMed] [Google Scholar]
  17. Spencer K., Carpenter P. Screening for Down's syndrome using serum alpha fetoprotein: a retrospective study indicating caution. Br Med J (Clin Res Ed) 1985 Jun 29;290(6486):1940–1943. doi: 10.1136/bmj.290.6486.1940. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Spencer K., Coombes E. J., Mallard A. S., Ward A. M. Free beta human choriogonadotropin in Down's syndrome screening: a multicentre study of its role compared with other biochemical markers. Ann Clin Biochem. 1992 Sep;29(Pt 5):506–518. doi: 10.1177/000456329202900504. [DOI] [PubMed] [Google Scholar]
  19. Spencer K., Macri J. N., Aitken D. A., Connor J. M. Free beta-hCG as first-trimester marker for fetal trisomy. Lancet. 1992 Jun 13;339(8807):1480–1480. doi: 10.1016/0140-6736(92)92073-o. [DOI] [PubMed] [Google Scholar]
  20. Spencer K., Macri J. N., Anderson R. W., Aitken D. A., Berry E., Crossley J. A., Wood P. J., Coombes E. J., Stroud M., Worthington D. J. Dual analyte immunoassay in neural tube defect and Down's syndrome screening: results of a multicentre clinical trial. Ann Clin Biochem. 1993 Jul;30(Pt 4):394–401. doi: 10.1177/000456329303000408. [DOI] [PubMed] [Google Scholar]
  21. Spencer K., Macri J. N., Coombes E. J., Ward A. M. Antenatal screening for Down's syndrome. BMJ. 1993 Jun 12;306(6892):1616–1616. doi: 10.1136/bmj.306.6892.1616. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Spencer K., Macri J. N. Early detection of Down's syndrome using free beta human choriogonadotropin. Ann Clin Biochem. 1992 May;29(Pt 3):349–350. doi: 10.1177/000456329202900319. [DOI] [PubMed] [Google Scholar]
  23. Wald N. J., Cuckle H. S., Densem J. W., Kennard A., Smith D. Maternal serum screening for Down's syndrome: the effect of routine ultrasound scan determination of gestational age and adjustment for maternal weight. Br J Obstet Gynaecol. 1992 Feb;99(2):144–149. doi: 10.1111/j.1471-0528.1992.tb14474.x. [DOI] [PubMed] [Google Scholar]
  24. 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]
  25. Wald N. J., Kennard A., Densem J. W., Cuckle H. S., Chard T., Butler L. Antenatal maternal serum screening for Down's syndrome: results of a demonstration project. BMJ. 1992 Aug 15;305(6850):391–394. doi: 10.1136/bmj.305.6850.391. [DOI] [PMC free article] [PubMed] [Google Scholar]

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