Prenatal diagnosis

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Maria and Brandon: Chromosomal Deletion 9Q

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While Maria was pregnant with her son Chase, a prenatal ultrasound revealed a cleft lip and some umbilical cord abnormalities.

After Chase was born, testing revealed he was missing part of a 9th chromosome on the Q branch, known as Chromosomal Deletion 9Q. Chase is the only known person with this condition, in it’s severity, in the whole world.

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Lacey: Tessier Cleft lip and palate and Micropthalmia

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Doctors told Lacey throughout her pregnancy, that her unborn son Christian had many complications. Once Christian was born, doctors diagnosed him with Tessier Cleft lip and palate with Micropthalmia.

Lacey says although it can be difficult when people stare, or give them looks filled with pity, Christian has has brought them an incredible amount of love and joy.

Lacey has written a book about her experience as a parent of a child with special needs, you can find it here.

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Kim: CHARGE syndrome

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When Kim went in for a prenatal ultrasound, doctors found her baby had a cleft lip and a heart defect. After her daughter Jackie was born, it was discovered that Jackie had CHARGE syndrome. In the begining Kim struggled with how to cope with Jackie’s diagnosis. Jackie has changed Kim and her family’s world for the better. She has shown them what really matters in life, and that it is precious.

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Kierra: 22q11 Deletion syndrome, Tracheomalacia, Pulmonary Atresia

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While pregnant, Kierra went in for a routine ultrasound and was told her daughter, Evanna had a major heart defect. Doctors found several other indicators that pointed to Evanna having 22q11  Deletion- also known as DiGeorge syndrome.

After Evanna was born, Kierra and her husband received an official diagnosis of 22q11 Deletion syndrome.

When Evanna was 5 months old she had her first open heart surgery; and subsequently spent 400 days in the hospital due to complications.

Evanna has a major heart condition know as Pulmonary Atresia– MAPCA’s (Major aortopulmonary collateral arteries) which is often a complication found with 22q11 Deletion syndrome. She also has a critical airway, known condition known as Tracheomalacia.

Visit Kierra’s blog at theirvinefamilyblog.com

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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: Dwarfism-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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