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Titolo:
A clinical study on the practicability of trisomy 21 - risk analysis in the first trimester of pregnancy
Autore:
Eiben, B; Hammans, W; Keuter, S; Goebel, R; Louwen, F; Epplen, J;
Indirizzi:
Ev Krankenhaus Oberhausen, Inst Kin Genet Nordrhein & Frauenklin, D-46047 Oberhausen, Germany Ev Krankenhaus Oberhausen Oberhausen Germany D-46047 Oberhausen, Germany Ruhr Univ Bochum, Abt Mol Humangenet, D-4630 Bochum, Germany Ruhr Univ Bochum Bochum Germany D-4630 umangenet, D-4630 Bochum, Germany Univ Munster, Frauenklin, Abt Pranatale Med, Munster, Germany Univ Munster Munster Germany nklin, Abt Pranatale Med, Munster, Germany
Titolo Testata:
ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE
fascicolo: 3, volume: 205, anno: 2001,
pagine: 94 - 98
SICI:
0948-2393(200105/06)205:3<94:ACSOTP>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
GER
Soggetto:
FETAL NUCHAL TRANSLUCENCY; MATERNAL SERUM; FETUSES; HCG; EXPRESSION; SKIN;
Keywords:
first trimester screening; free beta-hCG; PAPP-A; trisomy 21; trisomy 18; triploidies; triple-screening; risk estimation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Eiben, B Ev Krankenhaus Oberhausen, Inst Kin Genet Nordrhein & Frauenklin,Virchowstr 20, D-46047 Oberhausen, Germany Ev Krankenhaus Oberhausen Virchowstr 20 Oberhausen Germany D-46047
Citazione:
B. Eiben et al., "A clinical study on the practicability of trisomy 21 - risk analysis in the first trimester of pregnancy", Z GEBU NEON, 205(3), 2001, pp. 94-98

Abstract

Background: In the past a non invasive risk analysis for detecting specific chromosomal aberrations was only possible from week 15 of pregnancy. In this paper the practicability of first trimester screening is analysed. Material and methods: Blood samples were taken from 1000 pregnant women before a invasive prenatal diagnosis was performed. Total hCG, free beta -hCGand PAPP-A (pregnancy associated plasma protein A) was analysed. These data were combined with complete cytogenetic and ultrasonographic (CRL and nuchal translucency- NT) data. Results: In more than 90% of cases the NT was below 3 mm. Here the rate ofnormal karyotypes was 97.8 %. in 61 cases a abnormal karyotype was found. Here in the most cases we found an elevated Ni. Also in the most cases of trisomy 21 and 18 and in triploidies a characteristic ratio of hCG/free beta-hCG and PAPP-A was discovered. Combining NT and biochemical analysis, 85%of trisomies 21 could be discovered as a risk group. Conclusions: This study demonstrates the possibilities of first trimester screening with a high detection rate for specific chromosomal aberrations. Discussion: First trimester screening should only be performed in specialised centers because determination of NT and risk analysis needs extensive experience.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 18:20:45