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Report for Clinical Trial NCT03336463

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score

Recurrent pregnancy loss (RPL) is a clinical problem affecting 1-5% of couples of reproductive age. The contribution of thrombophilia to RPL is disputed. This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. Our objective was to determine whether a wider algorithm that includes clinic and genetic variants associated with thrombophilia could be more useful in the prediction for RPL than FVL and PT alone.

NCT03336463 Miscarriage, Recurrent
MeSH: Abortion, Spontaneous Abortion, Habitual Thrombophilia
HPO: Hypercoagulability Spontaneous abortion


Primary Outcomes

Description: Repeated clinical pregnancy loss and/or foetal death (≥ 2 consecutive or ≥ 3 non-consecutive) before the 20th weeks of pregnancy

Measure: Recurrent Pregnancy Loss

Time: 20 weeks

Description: Pregnancy with life-birth

Measure: Pregnancy at term

Time: 20 weeks

Time Perspective: Retrospective

Case-Control


There are 2 SNPs

SNPs


1 rs1799963

This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene.


2 rs6025

This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene.



HPO Nodes


HPO:
Hypercoagulability
Genes 19
PROC SPTA1 SPTB F5 MYD88 EPB42 SLC4A1 PROS1 AGGF1 HRG PROC GATA2 THBD PLAT ANK1 PROS1 F9 DLD PIGA
Spontaneous abortion
Genes 70
MTMR14 DNAH9 CCDC103 DNAH11 DNAAF3 LRRC56 LRRC6 GAS8 SERPINC1 CFAP298 SPAG1 CCDC40 ARMC4 F13A1 HOXA13 GAS2L2 CCDC151 XIST MYF6 HTR1A DNAAF2 SYCP3 JAK2 RYR1 CFAP221 ANXA5 DNAAF1 RSPH4A OFD1 NME8 DNAAF4 DNAI2 CCDC65 MPL THPO BIN1 CFAP300 FOXJ1 ALB DNAI1 WRN DNM2 DNAAF6 FGG CCNO DNAH5 CCDC114 RSPH1 CCDC39 STK36 FGA F2 DNAJB13 RPGR MGP TTC25 DNAL1 DNAH1 ZMYND10 RSPH3 RSPH9 FGB SPEF2 DNAAF5 F13B DRC1 GPHN F5 MCIDAS HYDIN