Prenatal diagnosis

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Katherine and Jeff: Ellis-van Creveld syndrome

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While pregnant, Katherine’s baby Arabella was diagnosed, and then re-diagnosed with several conditions that were all fatal forms of Dwarfism, including Thanatophoric Dysplasia, Short Rib Polydactyly syndrome,  and a major heart defect.

She and her husband Jeff were told to either terminate the pregnancy, or plan a funeral. They chose to continue the pregnancy. Arabella is now a beautiful 2 year old. She was officially diagnosed with Ellis-van Creveld syndrome, a sub-type of Short Rib Polydactyly syndrome. This syndrome has a 30-50 percent survival rate.

Katherine is now expecting her third child, Shiloh. Shiloh has also been diagnosed EVC, as well as a major heart defect. They do not know if Shiloh  will live, but are grateful for everyday they have with her.

 

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Rebekah and Chris: Achondroplasia

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Rebekah and Chris have Achondroplasia, a form of Dwarfism.

They have 2 children, one that has Dwarfism, and one that does not.

Rebekah and Chris open up about what it’s like living as a little person, and how they feel now that they have a daughter with the same condition.

Rebekah is a great resource to parents who receive a Dwarfism diagnosis for their child. You can read a letter she has written to these parents here.

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A Snapshot Story- Jessica: Down syndrome

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When the  doctor called Jessica  with test results that showed her unborn son would have Down syndrome, she immediately felt a sense of fear and anger she had never experienced before. Negative thoughts flooded her brain for days and weeks. She felt resentment and anger towards her pregnancy.

When she told her closest friends and family the news; their reactions were overwhelmingly positive and supportive. They showered her with love and told her how amazing he was going to be. And they were so right.

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A Snapshot Story- Dawn: Born Typical; A Misdiagnosis Of “Incompatible With Life”-

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Dawn saw several specialists during her pregnancy, who all gave her baby a grim diagnosis. She was told he had Trisomy 13- Patau syndrome, which was described to her as a condition that is incompatible with life. She was told her son would not live past birth. She was recommend by physicians, family, and friends to terminate her pregnancy. She and her husband decided not terminate, and their son was born as a typical baby- with no complications, or conditions.

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Mandy and Steven: Hyrops Fetalis, and Bilateral Renal Agenesis

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Mandy and Steven had four girls and were excited at the possibility of their fifth child being a boy. At 20 weeks, Mandy and her oldest daughter went to her doctor’s appointment and were told that something was seriously wrong with her baby.  Mandy and Steven were told that the baby had a condition called Hydrops Fetalis. The doctors also had trouble finding some vital organs and noticed his heart was enlarged; they offered the option to terminate the baby. After many tests were done, they found out that the baby had Bilateral Renal Agenesis

 

 

 

 

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Casey: Limb Difference

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At Casey’s 20 week prenatal ultrasound, doctor’s could not find any arms or hands. Their baby Owen was diagnosed with Limb Difference. Casey was in shock, and in a state of utter grief.

When Owen was born, they realized they didn’t see his diagnosis, they saw their beautiful baby boy.

Casey now considers it an honor to be Owen’s mother. She is humbled knowing she was chosen to be the mother of such an amazing little boy.

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Snapshot story-Ariel: Cornelia de Lange syndrome

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While pregnant, Ariel had a nuchal translucency test on her baby. Doctor’s found that the fluid pocket on the back of their baby’s neck was measuring larger than normal, and later doctors discovered an abnormality with their baby’s heart. At 34 weeks pregnant they were told that their baby was not measuring up to gestational age.

After Mila was born she was diagnosed with Cornelia de Lange syndrome.

 

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Sarah: Potocki- Shaffer syndrome

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Sarah had an ultrasound scare at a 20 week prenatal appointment. At a subsequent appointment with a specialist, she was told her baby was fine and not to worry. So after Betty was born, Sarah was shocked when a pediatrician told her she was global developmental delayed.

After many appointments and genetic testing, Betty was diagnosed with Potocki-Shaffer syndrome. Although Potocki-Shafffer syndrome is very rare, Sarah rallied and found online support groups, and other families with similar circumstances. She has an  awesome website, Bringing Up Betty, and does a Podcast that helps bring special needs families together.

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