The utility of circulating LHCGR as a predictor of Down's syndrome in early pregnancy

被引：7

作者：

Chambers, Anne E. ^{[1
]}

Mills, Walter E. ^{[1
]}

Mercade, Imma ^{[2
]}

Crovetto, Francesca ^{[3
]}

Crispi, Fatima ^{[3
]}

Rodriguez-Revenga Bodi, Laia ^{[4
]}

Pugia, Michael ^{[5
]}

Mira, Aurea ^{[6
]}

Lasalvia, Luis ^{[7
]}

Banerjee, Subhasis ^{[1
]}

Casals, Elena ^{[2
]}

Gratacos, Eduard ^{[3
]}

机构：

[1] Biocity Scotland, Origin Biomarkers, Newhouse ML1 5UH, Lanarkshire, Scotland

[2] Hosp Clin Barcelona, E-08036 Barcelona, Spain

[3] Univ Barcelona, Hosp Clin, IDIBAPS, Dept Maternal Fetal Med,ICGON,Fetal & Perinatal M, E-08028 Barcelona, Spain

[4] Hosp Clin Barcelona, Dept Mol Genet & Biochem, Barcelona, Spain

[5] Siemens Healthcare Diagnost, Elkhart, IN 46516 USA

[6] Hosp Clin Barcelona, Ctr Biomed Diag, Barcelona, Spain

[7] Siemens Healthcare Diagnost, New York, NY USA

来源：

BMC PREGNANCY AND CHILDBIRTH | 2014年 / 14卷

关键词：

hCG Receptor; sLHCGR; hCG-LHCGR; ELISA; Down's syndrome; Prenatal diagnosis; Screening test; Noninvasive prenatal test (NIPT); Early pregnancy; HUMAN CHORIONIC-GONADOTROPIN; PRENATAL-DIAGNOSIS; DNA; TRISOMY-21; ANEUPLOIDY; ERA;

D O I：

10.1186/1471-2393-14-197

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Background: Previous studies showed that soluble LHCGR/hCG-sLHCGR concentrations in serum or plasma combined with PAPP-A and free beta hCG significantly increased the sensitivity of Down's syndrome screen at early pregnancy without altering the false positive rate. The goal of the present study was to further examine the role of sLHCGR forms as combinatorial markers and to investigate whether sLHCGR could serve as an independent biomarker for Down's syndrome in first trimester pregnancy screens. Methods: The PAPP-A, free beta hCG, and hCG-sLHCGR concentrations together with nuchal translucency (NT) were measured in 40 Down's and 300 control pregnancies. The sLHCGR concentration was analysed in 40 Down's and 206 control pregnancies. Results: The hCG-LHCGR in combination with PAPP-A and free beta hCG increased the detection rate (DR) by 35% without altering the false positive rate (FPR). The sLHCGR: hCG-sLHCGR ratio alone detected 80% of Down's pregnancies in first trimester screening, with a false positive rate of 0.5%. Conclusions: While measurement of sLHCGR forms in combination with PAPP-A and free beta hCG significantly increases the detection rate of Down's syndrome at first trimester, the ratio of sLHCGR: hCG-sLHCGR acts as an independent marker with a detection rate that is significantly higher than the existing biochemical markers individually for prenatal first trimester screening of Down's syndrome.

引用

页数：5

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