I finally got in to see the perinatologist, Dr. Locksmith, on Thursday of this week. I was a nervous wreck but excited to figure out what was going on. I remember sitting in the waiting room being pissed off at all of the happy women and the healthy babies in the magazines, terrible huh? I was in a bad place. The technician did another ultrasound and then Dr. Locksmith came in to talk to us about what he saw. He said my son looks to have clenched fists and rocker bottom feet, a sure sign of something called Trisomy 18. He added in the most blunt, rude, as a mater-af-act-ly way, "It's always fatal". I remember sitting on the chair not knowing how to react, I didn't want to scream and cry because I didn't want to make the technician or the doctor feel awkward, weird. Who cares what they think? I deserved to cry my eyes out, scream, and throw things if I wanted to. But I didn't. The doctor recommended an amnio and I agreed. It wasn't too painful, very weird feeling though. He said the FISH (rapid results) would be in the next day, those results only rule out Trisomy 13 (fatal), 18 (fata), and 21 (down syndrome). For the next however many hours until we got the results I researched, cried, ate a lot of Sonic, and slept a lot. Sonic was our comfort food for some reason, after every negative appointment what did we do? We got Sonic. The next night, Friday, we finally got great news, all three of those trisomies were negative, HOORAY! The doctor that called with the results did tell me that these are just the first results and the rest would be in within a week, and those results could still be positive for more rare chromosome disorders but would be VERY unlikely.
I was so happy. Everything was back to normal. There were physical issues with my son but I was sure there was no chromosome issue to worry about. If he wasn't positive for the most prevalent chromo disorders then he's definitely going to be negative for the rest. We had a great, happy weekend.
I went back to work on Monday and one of the days during the week I got a call from the hospital, the rest of my results were in. I was happy talking to Dan, the genetics counselor. I knew everything was negative and my life was going to carry on. WRONG. Very wrong. He said there is a problem with the 9th chromosome, I quickly became hysterical and ran into my boss' office since I knew she wasn't there, and closed the door. I told him I needed to meet with him that afternoon for more information. I called Dennis from the office and asked him to come get me. We went to the hospital and were informed our son had something called Trisomy 9p. We sat through what seemed to be an eternity of genetic counseling getting a Chromosome 101 lesson and trying to understand everything. Through all of the bad things that Trisomy 9p is, it isn't normally fatal. Dan told us that we had 4 weeks to make a decision whether or not to keep the baby or not. If I decided not to then I would be put into labor and would still need to birth the baby. Absolutely not. My son had a fighting chance, yes there are obstacles and HUGE issues that we will have to go through as a family but I am giving him that chance.
The following is some information on Trisomy 9. This information is about full Trisomy 9 where there are three copies of chromosome 9. Our baby only has about 75% of the extra 9th chromosome, instead of all of it.
Trisomy 9 is a chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can appear with or withoutmosaicism.
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[edit]Characteristics
Symptoms vary, but usually result in dysmorphisms in the skull, nervous system, and mental retardation. Dysmorphisms in the heart,kidneys, and musculoskeletal system may also occur. An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, wide fontanelle, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high archedpalate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also a webbed neck. [1]
Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. A study of 5 cases showed an association with Coffin-Siris Syndrome, as well as a wide gap between the 1st and 2nd toes in all five, while three had brain malformations including dilated ventricles with hypogenesis of the corpus callosum and Dandy-Walker malformation.[2]
Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. A study of 5 cases showed an association with Coffin-Siris Syndrome, as well as a wide gap between the 1st and 2nd toes in all five, while three had brain malformations including dilated ventricles with hypogenesis of the corpus callosum and Dandy-Walker malformation.[2]
[edit]Detection
Trisomy 9 can be detected prenatally with chorionic villus sampling and cordocentesis, and can be suggested by obstetric ultrasonography.
Because trisomy 9 may appear with mosaicism, it is suggested that doctors take samples from multiple tissues when karyotyping for diagnosis.[3]
| Trisomy 9 | |
|---|---|
| Classification and external resources | |
 Chromosome 9 | |
| ICD-10 | Q92. |
| ICD-9 | 758 |
| DiseasesDB | 32657 |
| MeSH | |
Children with a normal chromosome 9 will have TWO of the above pictures. However, our baby has two PLUS an additional one that goes from the top all the way to where the diagram says, 9q21. Children with full Trisomy 9 will have three of the above pictures.
