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Request for best treatment option for recurrent cystic hygroma with hydrops fetalis
Dear Dr. Bill Cusick,
Good morning. My name is Dr. Durga Rao (Human Geneticist) from Hyderabad, India. I have gone through your publications and your expert suggestions related to immune related pregnancy conditions in inciid forums <http://www.inciid.org/>. As you are the world leader in reproductive immunology, I am writing this email to get your valuable suggestion regarding a unique case that we recently investigated. A couple visited our genetic diagnostic center with immune related pregnancy losses (pregnancies terminated twice due to recurrent cystic hygroma with hydrops fetalis). Chromosomal analysis of the couples and the abortus material are normal. We screened inherited thrombotic panel for MTHFR (C677T, A1298C), Factor V Leiden and PAI-1 (4g/5g polymorphism) mutations. The only significant variation in the female partner is PAI-1 4G/4G allele. The male partner has 4G/5G (heterozygous) and also heterozygous for A1298C. As the 4G allele is present in both the partners this can have an impact on the fetus. From your experience what would be the best treatment option for individuals with PAI-1 4G/4G allele. Thanks so much for your time and please let me know if you need more information regarding this case.
Best Regards,
Durga Rao
Dr. Durga Rao
GNL
Hyderabad
India
Good morning. My name is Dr. Durga Rao (Human Geneticist) from Hyderabad, India. I have gone through your publications and your expert suggestions related to immune related pregnancy conditions in inciid forums <http://www.inciid.org/>. As you are the world leader in reproductive immunology, I am writing this email to get your valuable suggestion regarding a unique case that we recently investigated. A couple visited our genetic diagnostic center with immune related pregnancy losses (pregnancies terminated twice due to recurrent cystic hygroma with hydrops fetalis). Chromosomal analysis of the couples and the abortus material are normal. We screened inherited thrombotic panel for MTHFR (C677T, A1298C), Factor V Leiden and PAI-1 (4g/5g polymorphism) mutations. The only significant variation in the female partner is PAI-1 4G/4G allele. The male partner has 4G/5G (heterozygous) and also heterozygous for A1298C. As the 4G allele is present in both the partners this can have an impact on the fetus. From your experience what would be the best treatment option for individuals with PAI-1 4G/4G allele. Thanks so much for your time and please let me know if you need more information regarding this case.
Best Regards,
Durga Rao
Dr. Durga Rao
GNL
Hyderabad
India