Screening for Down's syndrome using HCG concentrations - A common practice but still an enigma

Molecular Human Reproduction

Volumn 5, Issue 10, 1999, Pages 893-895

  Goshen, Ran ^a,b,c  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b UNIVERSITY OF TORONTO   (Canada)

^c DEPARTMENT OF RADIATION ONCOLOGY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; BIOCHEMICAL MARKER; CHORIONIC GONADOTROPIN; ESTRIOL; MESSENGER RNA; TRANSCRIPTION FACTOR; BIOLOGICAL MARKER; CHORIONIC GONADOTROPIN BETA SUBUNIT;

CYTOTROPHOBLAST; DOWN SYNDROME; GENOTYPE; HORMONE BLOOD LEVEL; HORMONE SYNTHESIS; HUMAN; KARYOTYPE; MATERNAL BLOOD; PHENOTYPE; PLACENTA; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; SHORT SURVEY; BIOSYNTHESIS; BLOOD; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MASS SCREENING; METABOLISM; PRENATAL DIAGNOSIS; REVIEW;

BIOLOGICAL MARKERS; CHORIONIC GONADOTROPIN; CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN; DOWN SYNDROME; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MASS SCREENING; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0032887055     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/5.10.893     Document Type: Short Survey

References (28)

1. Bogart, M.H., Pandian, M.R. and Jones, O.W. (1987) Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat. Diagn., 7, 623-630.
2. Boorstein, W.R., Vamvakopoulos, N.C. and Fiddes, J.C. (1982) Human chorionic gonadotropin beta-subunit is encoded by at least eight genes arranged in tandem and inverted pairs. Nature, 300, 419-422.
3. Brizot, M.L., Jauniaux, E., McKie, A.T. et al. (1995) Placental expression of alpha and beta subunits of human chorionic gonadotrophin in early pregnancies with Down's syndrome. Hum. Reprod., 10, 2506-2509.
4. Chard, T. (1991) Biochemistry and endocrinology of the Down's syndrome pregnancy. Ann. N. Y. Acad. Sci., 626580-62696.
5. Chen, H., Rossier, C. and Antonarakis, S.E. (1996) Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. Genomics, 38, 30-37.
6. Chrast, R., Scott, H.S., Chen, H. et al. (1997) Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. [Letter.] Genome Res., 7, 615-624.
7. Eldar-Geva, T., Hochberg, A., deGroot, N. et al. (1995) High maternal serum chorionic gonadotropin level in Downs' syndrome pregnancies is caused by elevation of both subunits messenger ribonucleic acid level in trophoblasts. J. Clin. Endocrinol. Metab., 80, 3528-3531.
8. Extermann, P., Bischof, P., Marguerat, P. et al. (1998) Second-trimester maternal serum screening for Down's syndrome: free beta-human chorionic gonadotrophin (HCG) and alpha-fetoprotein, with or without unconjugated oestriol, compared with total HCG, alpha-fetoprotein and unconjugated oestriol. Hum. Reprod., 13, 220-223.
9. Goshen, R., Gonik, B., de-Groot, N. et al. (1994) The genomic basis of β human chorionic gonadotropin diversity in triploidy. Am. J. Obstet. Gynecol., 170, 700-701.
10. Goshen, R., Hochberg, A. A., Korner, G. et al. (1996) Purification and characterization of placental heparanase and its expression by cultured cytotrophoblasts. Mol. Hum. Reprod., 2, 679-684.
11. Goshen, R., Gonik, B., Ariel, I. et al. (1999) High levels of maternal serum human chorionic gonadotropin in Down Syndrome pregnancies: the possible role of a transcription factor on chromosome 21. Fetal Diagn. Ther., 14, 106-111.
12. Graham, M.Y., Otani, T., Boime, I. et al. (1987) Cosmid mapping of the human chorionic gonadotropin beta subunit genes by field-inversion gel electrophoresis. Nucleic Acids Res., 15, 4437-4448.
13. Haddow, J.E., Palomaki, G.E., Knight, G.J. et al. (1994) Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. [See comments.] N. Engl. J. Med., 330, 1114-1118.
14. Haddow, J.E., Palomaki, G.E., Knight, G.J. et al. (1998) Screening of maternal serum for fetal Down's syndrome in the first trimester. N. Engl. J. Med., 338, 955-961.
15. Haddow, J.E., Palomaki, G.E., Knight, G.J. et al. (1992) Prenatal screening for Down's syndrome with use of maternal serum markers. [See comments.] N. Engl. J. Med., 327, 588-593.
16. Hay, D.L. (1988) Placental histology and the production of human choriogonadotrophin and its subunits in pregnancy. Br. J. Obstet. Gynaecol., 95, 1268-1275.
17. Jauniaux, E. and Hustin, J. (1998) Chromosomally abnormal early ongoing pregnancies: correlation of ultrasound and placental histological findings. Hum. Pathol., 29, 1195-1199.
18. Kliman, H.J. and Feinberg, R.F. (1990) Human trophoblast-extracellular matrix (ECM) interactions in vitro: ECM thickness modulates morphology and proteolytic activity. Proc. Natl Acad. Sci. USA, 87, 3057-3061.
19. Labudova, O., Krapfenbauer, K., Moenkemann, H. et al. (1998) Decreased transcription factor junD in brains of patients with Down syndrome. Neurosci. Lett., 252, 159-162.
20. Luckas, M.J., Sandland, R., Hawe, J. et al. (1998) Fetal growth retardation and second trimester maternal serum human chorionic gonadotrophin levels. Placenta, 19, 143-147.
21. Miller-Lindholm, A.K., LaBenz, C.J., Ramey, J. et al. (1997) Human chorionic gonadotropin-beta gene expression in first trimester placenta. Endocrinology, 138, 5459-5465.
22. Paoloni-Giacobino, A., Chen, H. and Antonarakis, S.E. (1997) Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. Genomics, 43, 43-51.
23. Price, K.M., Van Lith, J.M., Silman, R. et al. (1998) First trimester maternal serum concentrations of fetal antigen 2 in normal pregnancies and those affected by trisomy 21. Hum. Reprod., 13, 1706-1708.
24. Renier, M.A., Vereecken, A., Van Herck, E. et al. (1998) Second trimester maternal dimeric inhibin-A in the multiple-marker screening test for Down's syndrome. Hum. Reprod., 13, 744-748.
25. Spencer, K. (1993) Free alpha-subunit of human chorionic gonadotropin in Down syndrome. Am. J. Obstet. Gynecol., 168, 132-135.
26. Sumarsono, S.H., Wilson, T.J., Tymms, M.J. et al. (1996) Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice. Nature, 379, 534-537.
27. Talmadge, K., Boorstein, W. R., Vamvakopoulos, N.C. et al. (1984) Only three of the seven human chorionic gonadotropin beta subunit genes can be expressed in the placenta. Nucleic Acids Res., 12, 8415-8436.
28. Wald, N., Stone, R., Cuckle, H.S. et al. (1992) First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down's syndrome [see comments]. Br. Med. J., 305, 28.