Rare Genetic Diagnosis Interrupted Woman's Wedding Day. She Kept Her Baby
Summary
A woman named Malie Appling discovered during a routine pregnancy screening that her unborn baby might have a rare genetic condition called mosaic trisomy 13. Despite the uncertainty and worry during her wedding and honeymoon, further tests showed her baby was developing normally, and she decided to keep the baby.Key Facts
- Malie Appling is a 26-year-old speech therapist from Georgia.
- She was eight weeks pregnant and about to get married when a prenatal test showed an "ABNORMAL" result.
- The test indicated a high chance of mosaic trisomy 13, a rare genetic condition where some cells have an extra chromosome 13.
- Mosaic trisomy 13 can cause serious health problems and developmental delays, and can be fatal in infancy.
- Appling’s fiancé encouraged staying hopeful despite the scary news.
- A detailed anatomy scan at 13 weeks showed no typical problems linked to full trisomy 13.
- Their doctor said the abnormality could be only in the placenta, not the baby, but invasive tests would be needed for certainty.
- The couple waited for a 20-week scan, which showed the baby was growing without problems, leading them to continue the pregnancy.
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