• Sarina
• Yuliya
• Zoe

Chromosome 16 Inversion

Our story begins with our amniocentesis results. Our doctor called us and sounded urgent on the answering machine,. We called and set up an appointment to discuss the results. We learned we had a baby girl, but she had an inversion on chromosome 16. My husband and I were both tested and found not to carry the trait. This meant that she would have a 9% chance of having birth defects and/or mental retardation. Everything was very vague because not enough of this type of abnormality had ever been seen.

We began testing on the baby. Level II sonograms, fetal echocardiograms, non-stress tests and such. Only one defect was found, an omphalocele. It was a small one at that and a pediatric surgeon specializing in this stated it was only a twenty minute operation. However, he said our main concern was the chromosomal inversion because of the possibility of other problems unforeseen even with all the testing we had done. We continued the pregnancy and she grew exceptionally well and strong.

We went into labor at 39 weeks. When my water broke the amniotic fluid was meconium stained. She was delivered vaginally and suctioned vigorously. She cried healthily and was pink all over when they took her to intensive care. Shortly after her birth she would have periods of turning blue, as if she was holding her breath. She was on an oxygen nasal cannula shortly after that. Before 24 hours passed she was on a respirator and even with this she was failing. Maybe it was the meconium aspiration, doctors thought. She was placed on ECMO, a heart and lung bypass machine, and finally somewhat "stabilized." The diagnosis of Persistent Pulmonary Hypertension was given to her. We were told it was the worst neonatal diagnosis that anyone can have in the ICU and carried a poor prognosis. ECMO had helped other babies with this, if it as a reversible process. This was the last ditch effort and her only hope.

After 2 weeks, much longer than is usually required for a turnaround, a lung biopsy was performed to see why we weren't able to wean her off the machine without sending her into distress. It would ultimately show that her blood vessels hadn't formed properly and were too tight to allow life - giving blood to flow through. Our beautiful baby had no chance and we had to let her go. Complications from ECMO had set in as well, and even she, feisty as she was, was starting to let go that very same day.

She lived a total of 25 days with us in the pediatric ICU. Letting her go was the most difficult thing I will ever have to endure, and I still struggle with not living with her. A limited autopsy was performed and we gave permission for the slides to be made available to the scientific community. I know it is too late for us to be helped but perhaps some good can come from this tragedy if some new information is learned. Maybe parents and their newborns in the future can be helped with whatever is found out.

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Inversion (16) (p13.3 q12.1)

Our little Yuliya was born on February 13, 1998. She is our second baby, My pregnancy was going without complications. The labor was rapid; she was delivered vaginally without any complications. Her weight was 3800 kg, 53 cm high, Apgar 8/8. On the third day we left the hospital as perfectly happy family. At first everything seemed fine. The girl was gaining weight properly. At the age 5 months she started vocalizing, at 7-8 months she started babbling. She learned to sit at 7 months. She walked on her own at 1 year and 2 months. During this time she passed several courses of massage and physiotherapy. But our main problem was retardation in mental and communication development. She did not react when her name was called, had difficulties in understanding conversation, was not able to perform simple instructions. Her physical development was normal for age. We started testing her with the specialists at about 14 months old. It was then that we learned out baby had an inversion of chromosome 16. My husband and I were both tested and the tests showed our karyotypes were normal. The biochemical blood tests showed hyperlipoproteideima. Urinalysis was normal. Other tests were as follows: hearing and visual ability normal, Eho-EG: enlargement of the 111 rentricle-7.25 mm (normal-4.0 mm). EEG: absence of local brain defects, diffuse changes of the electric brain activity, irritation of the mesencephalic and brain stem structures. Inner organs with no pathology. Neurologists came up with diagnosis of mild mental retardation and communicative disorders.

Now we execute all the doctors' prescriptions. Our daughter grows, she walks good, runs. Walking she often rises on the toes, gets tired rather quickly. She does not speak. She still does not react to her name or someone's voice. She is able to concentrate on commercials, cartoons, she likes music. In our opinion she has intelligent expression, her eyes show her feelings and emotions. She has mobile features. Yuliya belongs to the loving family, everyone cares about her - my husband and me, her little sister, granny, and grandpa.

We do not lose hope. We pray to God and trust the doctors' competence. We believe in child's nervous system plasticity. It is hard to find out what in our situation is connected with genetics and what is connected to CNS injury. What could be changed and what could not? But still we be sincerely grateful for any response to our story of parents, doctors, anyone who could give us some advise, a helping hand on the way to recovery of our little daughter.

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Duplication Inversion 16p13.3-13.1

Zoe was born on Sept 25, 2001 at 35+ weeks. The pregnancy was normal. The only concern was an 18% growth discordance between Zoe and her twin sister. The growth difference wasn't of concern to my obstetrician. At birth Zoe weighed Ibs. 120z. She did have a weak cry, at her first feeding her 02 level dropped and she required 02 during her feedings. She would also reflux through her nose. The did a barium swallow and found no abnormalities.

At 2 days old they sent her to the NICU at a Children's Hospital. She was there for 10 days and they could find nothing anatomically wrong with her. They did consult genetics because of dysmorphic facial features. At that time he found a duplication on 16p but told us it was not linked to any known disorders. She was sent home on an apnea monitor and 02. By December 2001 she was off the apnea monitor and 02. She seemed to be progressing fine. She was on Reglan and Zantac for reflux. By January her weight gain had slowed down. She still had the reflux, also low muscle tone. Our pediatrician thought she had Pradder Willi Syndrome. The test came back negative.

They referred us to gastroenterology to see if the reflux was causing her slow weight gain. The gastroenterologist referred us to another genetics doctor to investigate the extra chromosome material found earlier. That is when we found out where the duplication was. She is now 11 months old and weighs 13 Ibs 30z. She has had a renal ultrasound which came back normal. She is wearing glasses for strabismus and nystagmus. We are waiting for her to see a developmentalist, ENT, cardiology , and audiology .She has seen neurology and her MRI came back within normal limits and there was some decreased white matter. Zoe can roll from back to stomach. Lift her head up while she is on her belly, reach for objects, laughs and smiles.

I look forward to getting to know the other parents and learning more about Zoe's condition.

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