Genetech

Recurrent Pregnancy Loss

How a couple with recurrent pregnancy losses was helped

Recurrent pregnancy loss risk identified by GeneRPLTM helped couple identify that it is thrombophilia related, and also helped in therapeutic management to prevent subsequent pregnancy loss and fetal anomalies.

Sonal and Rishabh, married for 4 years, had 4 pregnancy losses. Three pregnancies were lost in first trimester and one late pregnancy was lost with growth retardation. Parental karyotyping of the couple was normal and the recurrent pregnancy loss remained unexplained. The couple got the GeneRPLTM test done at GeneTech on the advice of their obstetrician in Hyderabad. Genomic Fertility Analysis by GeneRPLTM of the couple showed that Sonal carried multiple gene mutations associated with Thrombophilia related pregnancy loss. Thrombophilia genes play an important role in blood coagulation pathway and when disrupted the process may result in a pregnancy loss. Sonal was identified to have 5-fold elevated risk for thrombophilia in view of combined effect of MTR, MTRR, MTHFR and VEGFA gene variants found in her by GFA. Therapeutic dose of anticoagulants was recommended for future pregnancies. Since the VEGFA gene variant found in her adds risk for pre-eclampsia (high blood pressure in pregnancy), preventive measures were recommended. As fetal chromosomal defect risk was also identified, couple have decided to go for IVF with pre-implantation genetic testing on embryos. Chromosomally normal embryo was transferred and the physician meticulously planned preventive management for Thrombophilia using anti-coagulants and anti-inflammation drugs. The couple conceived and successfully delivered a baby girl.

Recurrent Pregnancy Loss

How a couple with recurrent pregnancy losses was helped

Recurrent pregnancy loss risk identified by GeneRPLTM helped couple identify that it is thrombophilia related, and also helped in therapeutic management to prevent subsequent pregnancy loss and fetal anomalies.

Sonal and Rishabh, married for 4 years, had 4 pregnancy losses. Three pregnancies were lost in first trimester and one late pregnancy was lost with growth retardation. Parental karyotyping of the couple was normal and the recurrent pregnancy loss remained unexplained. The couple got the GeneRPLTM test done at GeneTech on the advice of their obstetrician in Hyderabad. Genomic Fertility Analysis by GeneRPLTM of the couple showed that Sonal carried multiple gene mutations associated with Thrombophilia related pregnancy loss. Thrombophilia genes play an important role in blood coagulation pathway and when disrupted the process may result in a pregnancy loss. Sonal was identified to have 5-fold elevated risk for thrombophilia in view of combined effect of MTR, MTRR, MTHFR and VEGFA gene variants found in her by GFA. Therapeutic dose of anticoagulants was recommended for future pregnancies. Since the VEGFA gene variant found in her adds risk for pre-eclampsia (high blood pressure in pregnancy), preventive measures were recommended. As fetal chromosomal defect risk was also identified, couple have decided to go for IVF with pre-implantation genetic testing on embryos. Chromosomally normal embryo was transferred and the physician meticulously planned preventive management for Thrombophilia using anti-coagulants and anti-inflammation drugs. The couple conceived and successfully delivered a baby girl.

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