u/Impossible_Cash279

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We faced 2 pregnancies with Severe Bilateral VM, Short long bones , frontal boasing and other brain abnormalities in 2019 and 2025 at 13-15 weeks gestation and terminated them by MTP

Both pregnanies were reccurent phenotype and normal karyotype and CMA results. No abnormality . So genetic issue is almost certain. We are 3rd degree consagnious couple.

We did TRIO WGS for 2025 fetus and US parents. The result was out and its disappointing. They only listed some template pathogenic unrelated harmless genes. So we requested RAW files. We had the 2019 DNA also stored and are about to give WGS for that sample.

With those RAW VCF files in hand ,can we find some answers for our reccurent fetal ambonrnality? Are there any online bioinfirmatics that look at rare cases to guide us as these labs are only fixated on template pathogenic variants and not interpreting VUS in reports .Our hope is to find a GENE so that we can targtet it through PGT M.

Am i hoping too much ? is this practical .Any leads/ sites that i can approach using these RAW data ?

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We faced 2 pregnancies with Severe Bilateral VM, Short long bones , frontal boasing and other brain abnormalities in 2019 and 2025 at 13-15 weeks gestation and terminated them by MTP

Both pregnanies were reccurent phenotype and normal karyotype and CMA results. No abnormality . So genetic issue is almost certain. We are 3rd degree consagnious couple.

We did TRIO WGS for 2025 fetus and US parents. The result was out and its disappointing. They only listed some template pathogenic unrelated harmless genes. So we requested RAW files. We had the 2019 DNA also stored and are about to give WGS for that sample.

With those RAW VCF files in hand ,can we find some answers for our reccurent fetal ambonrnality? Are there any online bioinfirmatics that look at rare cases to guide us as these labs are only fixated on template pathogenic variants and not interpreting VUS in reports .Our hope is to find a GENE so that we can targtet it through PGT M.

Am i hoping too much ? is this practical .Any leads/ sites that i can approachbusing these RAW data ?

We faced 2 pregnancies with Severe Bilateral VM, Short long bones , frontal boasing and other brain abnormalities in 2019 and 2025 at 13-15 weeks gestation and terminated them by MTP

Both pregnanies were reccurent phenotype and normal karyotype and CMA results. No abnormality . So genetic issue is almost certain. We are 3rd degree consagnious couple.

We did TRIO WGS for 2025 fetus and US parents. The result was out and its disappointing. They only listed some template pathogenic unrelated harmless genes. So we requested RAW files. We had the 2019 DNA also stored and are about to give WGS for that sample.

With those RAW VCF files in hand ,can we find some answers for our reccurent fetal ambonrnality? Are there any online bioinfirmatics that look at rare cases to guide us as these labs are only fixated on template pathogenic variants and not interpreting VUS in reports .Our hope is to find a GENE so that we can targtet it through PGT M.

Am i hoping too much ? is this practical .Any leads/ sites that i can approachbusing these RAW data ?