Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Nov;49(5):1025–1033.

A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome.

A J Staples 1, E F Robertson 1, E Ranieri 1, R G Ryall 1, E A Haan 1
PMCID: PMC1683263  PMID: 1833973

Abstract

The feasibility of extending second-trimester maternal blood screening for Down syndrome so as to include screening for trisomy 18 was examined using stored maternal serum samples collected for neural tube-defect screening. There were 12 samples from trisomy 18 pregnancies and 390 controls. The median maternal serum concentration of alpha-fetoprotein, free alpha-subunit human chorionic gonadotrophin, free beta-subunit human chorionic gonadotrophin, intact human chorionic gonadotrophin, total estriol, unconjugated estriol, estradiol, human placental lactogen, and progesterone were lowered in those pregnancies affected by trisomy 18 when compared with unaffected pregnancies matched for racial origin, maternal age, gestational age, and sample-storage duration. At an estimated odds risk of 1:400, 83.3% of affected pregnancies were detected using an algorithm which combines the maternal age-related risk with the maternal serum concentrations of unconjugated estriol, free alpha-subunit human chorionic gonadotrophin, free beta-subunit human chorionic gonadotrophin, estradiol, and human placental lactogen. The associated false-positive rate was 2.6%. At high risk odds of 1:10, the detection rate was 58.3%, with an associated false-positive rate of 0.3%. beta-Subunit human chorionic gonadotrophin and unconjugated estriol were the most powerful discriminators. It is possible to incorporate into existing Down syndrome screening programs an algorithm for detecting trisomy 18 with high sensitivity and specificity.

Full text

PDF
1033

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. Canick J. A., Palomaki G. E., Osathanondh R. Prenatal screening for trisomy 18 in the second trimester. Prenat Diagn. 1990 Aug;10(8):546–548. doi: 10.1002/pd.1970100813. [DOI] [PubMed] [Google Scholar]
  4. DiMaio M. S., Baumgarten A., Greenstein R. M., Saal H. M., Mahoney M. J. Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels. N Engl J Med. 1987 Aug 6;317(6):342–346. doi: 10.1056/NEJM198708063170603. [DOI] [PubMed] [Google Scholar]
  5. Hook E. B., Cross P. K., Schreinemachers D. M. Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA. 1983 Apr 15;249(15):2034–2038. [PubMed] [Google Scholar]
  6. Knight G. J., Palomaki G. E., Haddow J. E. Use of maternal serum alpha-fetoprotein measurements to screen for Down's syndrome. Clin Obstet Gynecol. 1988 Jun;31(2):306–327. doi: 10.1097/00003081-198806000-00009. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Nebiolo L., Ozturk M., Brambati B., Miller S., Wands J., Milunsky A. First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn. 1990 Sep;10(9):575–581. doi: 10.1002/pd.1970100905. [DOI] [PubMed] [Google Scholar]
  9. Palomaki G. E. Collaborative study of Down syndrome screening using maternal serum alpha-fetoprotein and maternal age. Lancet. 1986 Dec 20;2(8521-22):1460–1460. doi: 10.1016/s0140-6736(86)92768-6. [DOI] [PubMed] [Google Scholar]
  10. Petrocik E., Wassman E. R., Lee J. J., Kelly J. C. Second trimester maternal serum pregnancy specific beta-1 glycoprotein (SP-1) levels in normal and Down syndrome pregnancies. Am J Med Genet. 1990 Sep;37(1):114–118. doi: 10.1002/ajmg.1320370127. [DOI] [PubMed] [Google Scholar]
  11. Wald N. J., Cuckle H. S., Densem J. W., Nanchahal K., Canick J. A., Haddow J. E., Knight G. J., Palomaki G. E. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol. 1988 Apr;95(4):334–341. doi: 10.1111/j.1471-0528.1988.tb06602.x. [DOI] [PubMed] [Google Scholar]
  12. 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]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES