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About 12:30pm the ultrasound was finally completed and into the room came the maternal fetal medicine specialist doctor and genetic counselor. The doctor told Brian and me that our baby had some significant birth defects: a bilateral cleft lip with possible palate involvement, a VSD heart defect, and Dandy Walker Malformation that affects the cerebellum in the brain. I sat on the ultrasound table and sobbed. We had already come to terms with the cleft lip/palate and knew we could handle that. Estella would need surgery at the age of 4-6 months to repair her cleft lip and 12 months to repair her palate. We also had accepted the heart defect and knew surgery was done on infants regularly that had heart defects and the outcome was typically positive. But when the doctor said there was a defect in the brain, we didn’t know what to think and it seemed like there was too much up against our baby girl.
We headed back to the genetic counselor's office, to discuss genetic screening in more detail. We began with reviewing the findings of what the ultrasound saw. Estella definitely had Dandy Walker Malformation, Bilateral Cleft Lip, and a VSD heart defect. Along with those, the following features were red flagged: Nasal Bone (hypoplastic), EIF of the Heart, Echogenic Bowel, Club Feet, Ascites (Fluid in the Tummy), and concerns with the kidneys. From there we were presented with 2 options of either doing amniocentesis or having a blood screen. The benefits of an amniocentesis is that it would give definite results if the baby had a chromosomal defect. The doctor was possibly thinking Estella could have Trisomy 18 or Trisomy 13. The blood screen (CellFree DNA or Genome Screen) would identify high likely or low likely for a chromosomal defect. We decided on the Genome Screen due to the risk of miscarriage being 1 in 500 to 1 in 1,000 if an amniocentesis was done. We also will be able to find if a chromosomal defect is the cause once the baby is born, the prognosis if it is chromosomal, and the likelihood of its recurrence, all the same things an amniocentesis would show without the risk.
After the genetic counseling appointment, we had a consult with the Maternal Fetal Medicine Specialist. He explained in more detail any questions we had about conditions that were noted on the ultrasound. He also prepared us that the baby is at an increased risk for miscarriage until she is born or to be born stillbirth. We ended our day with plans to return in 3 weeks to have another ultrasound to get more detailed images of Estella’s brain, to check fluid levels, and to compare pictures from the previous ultrasound. Along with the ultrasound we would go over the Genome Screen in more detail and possibly see the pediatric cardiologist as well.
What Estella and our family need from here is prayer.
- Please pray that Estella does not have a chromosomal defect. The reason being if she does they will not do surgery on her once she is born to fix the heart defect.
- Please pray for those red flags on Estella’s ultrasound from August 1 to improve or for them to disappear.
- Finally, please pray for Estella's safe delivery and wisdom for Brian and me once she is born on decisions that need to be made to best care for her.
We hope our blog is quiet for a few weeks. My next OB visit is the week of August 21 and our MFM appointment is the week of August 28. Thank you for your prayers. We serve a God that can heal and do miracles. Through our daughter’s story and our family’s journey we hope you will see God’s strength and His love.
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