After eight years of unexplained infertility and two embryo transfers, this patient became pregnant with twins from mosaic embryos carrying a rare inherited genetic variant.
⚠️ These stories are personal experiences, not medical advice or scientific evidence. Success stories are more likely to be shared than unsuccessful ones, so they should not be interpreted as proof that a treatment works. Always discuss treatment decisions with your doctor.
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📊 Story Snapshot
👩 Age: 30📆 Years trying: 8
🧬 Embryo: Two mosaic embryos: [45, XY, -6, dup(16)(p12p13.1)(mos)] and [46, XX, del(14)(q23),dup(16)(p12p13.1)(mos)]
🧪 Retrievals: 1
🐣 Transfers: 2
💊 Diagnosis: Unexplained infertility initially, later diagnosed with genetic issue
📈 Outcome: Healthy twins born at 36 weeks
My husband and I got married young (22&23), and pretty much right away started trying to have kids. I wanted to be a young mom. Nothing happened the first few years and I was living in denial, I just kept saying, when it’s meant to be it will be. After 5 years (28) we decided to go see a doctor. He ran multiple tests on both of us and could find nothing wrong with either of us. He had no answer as to why I had never been pregnant. He wanted to do 6 iuis and then if none of those worked we would discuss ivf. We did 2 iuis, I never saw him again, his nurse did everything, the medicine made me crazy sick, and we were out a few thousand dollars, another year was gone and we still had no baby.
So we switched doctors. The new doctor let us go straight to ivf, and saw me every appointment himself. He said we had great odds because my egg count was amazing and my husband’s numbers looked good. Our egg retrieval resulted in 15 mature eggs, 11 fertilized, and 5 made it to day 5 blasts.
We decided to do genetic testing, with hopes that even if we didn’t get a baby, we would get answers. All of our embryos were rated good/great or great/excellent. Testing came back and I got the dreaded call from the nurse, “ I’m sorry,, all of your embryos came back abnormal, the doctor would like to set up a time to speak with y’all” – cue me falling to the ground balling my eyes out.
She emailed me my pgs report, I mourned the loss of the 3 boys and 2 girls I would never get to meet. We saw the doctor later that day. His exact words, ”yeah, you aren’t going to want to use any of these embryos. I’ll set up a consultation with a geneticist because that’s not my specialty, but I don’t see you being able to use any of these embryos.” It was Wednesday and we weren’t scheduled to talk to the geneticist until Friday. Longest 2 days of my life.
We talked to the geneticist and she was actually hopeful! She said all of our embryos had the same abnormality and that it was probably inherited from one of us. Since we were both healthy, normal functioning adults, if this was the case, we would get to use some of our embryos! I couldn’t believe it. A glimmer of hope after what had been the worst 2 days of my life. I have never prayed that I had a genetic abnormality until that day 😂. Turns out I didn’t, but my husband did! He has a duplication on a segment of chromosome 16 that was inherited by all the embryos. This meant that our #5 embryo was technically “normal” ([46, XX, dup(16)(p12p13.1)]).
Well, she didn’t stick. So we talked to the geneticist and she said she would approve the use of embryos 1 & 3, which carried other mosaic abnormalities on top of the segmental duplication my husband has ([45, XY, -6, dup(16)(p12p13.1)(mos)] and [46, XX, del(14)(q23),dup(16)(p12p13.1)(mos)]). Embryos 2 and 4 were not given approval and were discarded. We decided to transfer 1 and 3 together. One last hoorah to say I did everything I could before moving on to adoption or a different avenue to have our baby.
I had totally given up, if I’m honest. I did not think they were going to stick. If my normal didn’t stick, why would they? I had never been pregnant, I was 30, it just wasn’t in the cards for me. I got the call from the nurse, the same nurse that had told me 6 months ago we didn’t have any embryos. I was sitting outside by the pool with my mom. I said well, this is it, and answered. I knew what she was going to say. Then, she said, “YOU ARE PREGNANT!” 😳 I said, “are you sure?” 😂 I was in disbelief. My little mosaic embryos stuck!
I carried them for 36 weeks. The best 36 weeks I never thought I would get to experience. They just turned 1 in March. They are smart and crazy and hilarious and sweet and loving and the best thing that has ever happened to me. It’s hard to even remember all the struggles we went through before they were here. We are so lucky.
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