Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using α-fetoprotein, unconjugated estriol and human chorionic gonadotropin

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 15, Issue 3, 2004, Pages 160-166

  Benn, P A ^a   Ying, J ^b  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cystic hygroma; Down syndrome; Hydrops; Maternal serum screening; Turner syndrome

Indexed keywords

ALPHA FETOPROTEIN; CHORIONIC GONADOTROPIN; ESTRIOL;

COMPUTER SIMULATION; CYSTIC LYMPHANGIOMA; DATA BASE; DOWN SYNDROME; EDEMA; FETUS HYDROPS; HUMAN; KARYOTYPE 45,X; MATERNAL SERUM; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; SECOND TRIMESTER PREGNANCY; TRISOMY 18;

ALGORITHMS; ALPHA-FETOPROTEINS; BIOLOGICAL MARKERS; CHORIONIC GONADOTROPIN; ESTRIOL; FEMALE; GENETIC SCREENING; HUMANS; KARYOTYPING; PREGNANCY; PREGNANCY TRIMESTER, SECOND; SEX CHROMOSOME DISORDERS;

EID: 2542437942     PISSN: 14767058     EISSN: None     Source Type: Journal    
DOI: 10.1080/14767050410001668257     Document Type: Review

References (24)

1. Hook EB. Prevalence, risks and recurrence. In Brock DJH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburgh, UK: Churchill Livingstone, 1992:351-92
2. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal morbidity and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7
3. Warburton D, Byrne J, Canki N. Chromosome Anomalies and Prenatal Development: An Atlas. Oxford, UK: Oxford University Press, 1991
4. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121-52.
5. Saller DN, Canick JA, Schwartz S, et al. Multiple-marker screening in pregnancies with hydropic and non-hydropic Turner syndrome. Am J Obstet Gynecol 1992;67:1021-4
6. Lambert-Messerlian GM, Sailer DN Jr, Tumber MB, et al. Second-trimester maternal serum inhibin A levels in fetal trisomy 18 and Turner syndrome with and without hydrops. Prenat Diagn 1998;18:1061-7
7. Wenstrom KD, Boots LR, Cosper PC. Multiple marker screening test: identification of fetal cystic hygroma, hydrops and sex chromosome aneuploidy. J Matern Fetal Med 1996;5:31-5
8. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 1987;7:623-30
9. Bogart MH, Golbus MS, Sorg ND, et al. Human chorionic gonadotropin levels in pregnancies with aneuploid fetuses. Prenat Diagn 1989;9:379-84
10. Crandall BF, Hanson FW, Keener S, et al. Maternal serum screening for α-fetoprotein, unconjugated estriol, and human chorionic gonadotropin between 11 and 15 weeks of pregnancy to detect fetal chromosome abnormalities. Am J Obstet Gynecol 1993;168:1864-9
11. Burton BK, Prins GS, Verp MS. A prospective trial of prenatal screening for Down syndrome by means of α-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. Am J Obstet Gynecol 1993;169:526-30
12. Ruiz C, Lamm F, Hart PS. Turner syndrome and multiple-marker screening. Clin Chem 1999;45:2259-61
13. Wald N, Hackshaw A. Tests using multiple markers. In Wald N, Leek I, eds. Antenatal and Neonatal Screening. Oxford, UK: Oxford University Press, 2000:23-57
14. Larsen SO, Christiansen M, Norgaard-Pedersen B. Calculation of roc curves in multidimensional likelihood ratio based screening with Down's syndrome as a special case. J Med Screen 1998;5:57-62
15. Benn PA, Ying J, Beazoglou T, et al. Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results. Prenat Diagn 2001;21:46-51
16. Wald NJ, Densem JW, Smith D, et al. Four-marker serum screening for Down's syndrome. Prenat Diagn 1994;14:707-16
17. Bray I, Wright DE, Davies C, et al. Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 1998;18:9-20
18. Palomaki GE, Haddow JE, Knight GJ, et al. Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin. Prenat Diagn 1995;15:713-23
19. National Center for Health Statistics. 1999 Natality Data Set. Hyattsville, MD. CD-ROM series 21; no. 12; May 2001
20. Ferguson-Smith MA, Yates JRW. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52 965 amniocenteses. Prenat Diagn 1984;4S:5-44
21. Gravholt CH, Juul S, Naeraa RW, et al. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. Br Med J 1996;312:16-21
22. Carothers AD, Frackiewicz A, De Mey R, et al. A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet 1980;43:355-68
23. Saller DN, Canick JA, Oyer CE. The detection of non-immune hydrops through second-trimester maternal serum screening. Prenat Diagn 1996;16:431-5
24. Marchase C, Savin E, Dragone E, et al. Cystic hygroma: prenatal diagnosis and counseling. Prenat Diagn 1985;5:221-7