/ The RE's Muse: Results are in

The RE's Muse

After 4 years of infertility, 2 surgeries, 1 miscarriage, and 19 months of high risk pregnancies, hubby and I now have two little women in our lives--one a toddler, the other not far behind. Buckle your seatbelts, it's gonna be a wild ride.

Thursday, September 16, 2004

Results are in

Thank you each for your comments on yesterday's scenario--all of you made very valid points for and against a little evening delight and I appreciate it. Know that hubby and I did, in fact, have a little late night lovin' but I'm not expecting anything to come of it pg-wise.

Now, bear with me please, long post ahead with a call for some possible answers from your collective coffers of knowledge.

The results were back in when I went to the RE's office today. But before I expand on that....

The best part of my day was when Dr. Rub (a new moniker for him that I'll explain later) came into the exam room to see hubby and I (note that I was appropriately draped in cloth and sitting on table awaiting a ride in the stirrups for obligatory post-D&C look-see) and, after exchanging pleasant greetings, said, "I can do you with your husband here." Tee hee. To which I replied jokingly, "That might be kind of strange but..." and girls--he laughed and blushed. I made my doctor blush...what talent. *Dreamy sigh...I lurve Dr. Rub....*

I will admit it was kind of strange having Dr. Rub between my legs with a speculum and the ever-popular Super Q-Tip with my husband at my side. But there's a first time for everything. After that portion of the show was over, we moved on to Dr. Rub's well-lubed fingers in the hootch while palpating my uterus to make sure it was where it should be and okay size-wise. All while keeping up a lovely stream of conversation--what talent on everyone's part in the room, all three of us--about how we fared in the hurricane (alas, Dr. Rub still does not have cable back and was without a phone for over a week--somebody, get BellSouth and ComCast to his house STAT!), how many hours he works (typically 80 a week), and so on. Inane banter.

Getting back to the results on our 'product of conception'...and I'm quoting directly from the report here: 68XXY minus 14. Extra haploid set of chromosomes with 1 chromosome 14 resulting in hypotriploidy associated with fetal mortality.

Essentially, gals, this means we had a boy, a son who would not have lived very long had the pregnancy progressed to term. Most babies born with such a condition, if they manage to survive the pregnancy, are typically severely malformed and/or retarded and don't live longer than a few hours or days. It was very hard learning the baby's sex today. He didn't tell us this info at the visit; I called back later to check on exactly what the results were (so I could promptly research the crap out of it) and his nurse read me the report verbatim over the phone. A boy, our son. *Sniff...plop of big tears*

Dr. Rub said the cause of this chromosomal abnormality can be from any one of three things (or a combo): poor egg quality, poor sperm quality, or two sperm fertilizing my egg and that the loss was nature's way for babies who wouldn't typically survive. He also said odds of having this happen again are the same as they would be for anyone else, 1-2%. I'm to wait for my period and then we'll try again at my next cycle. He was very happy with my response to the protocol and will not be changing it for the next cycle. The goal is to get me to ovulate and, as he reminded me, we only need one egg for that and he does not want to run the risk of multiples or OHSS with me.

Regardless, hubby and I were promptly sent for karyotyping today just to be sure we have no genetic issues to contend with that may have contributed to this. It should be a few weeks for the results. I hope and pray that both come back okay although I know that they can be completely normal and we can still potentially have future losses. I also got the added bonus of an extra blood draw to check my DHEAS levels which were elevated at my last draw, hence why I was on 2.5 mg of prednisone until 5w of pg.

Also, when I asked him if he was concerned about my elevated fasting glucose level (116) the morning of the D&C, he said he hadn't seen the results but that he was absolutely concerned about it. He thought it was definitely something to bear in mind and decided then and there that, given my history of elevated fasting glucose, we'd start me on 1000 mg of Glucophage XR per day immediately. My glucose levels have been elevated (between 102-109) for the past almost two years now but this past June my fasting glucose tolerance test with insulin fasting came back completely normal, which I think slightly flummoxed both he and I. 116 is the highest my glucose has ever been though and, considering that diabetes is diagnosed at 126 and above, I'm slightly worried.

I realize this is a long post but he hit with me so much info today. I've done some preliminary research on some of it but I have a few questions I'm wondering if any of you could help me with:

What exactly is "hypotriploidy?" My research has found numerous references to triploidy but nothing to it in a 'hypo' form.
Also, what does the lack of one chromosome 14 mean--what part of human formation is chromosome 14 directly responsible for?
Could my age and CD3 FSH level (8.49) have anything to do with the m/c/hypotriploidy/egg quality? The nurse said FSH below 10 is good so mine is perfectly fine--what have your REs/practices told you about FSH numbers?
And, lastly, are there any medical conditions you're aware of that would prevent my egg from doing whatever is necessary to prohibit two sperm from fertilizing it (i.e., zona pellucida abnormalities) ?

Any insights y'all can provide would be most appreciated. I do my best to be a well-educated patient. Today my husband wondered aloud if there are some doctors that just cringe when their patients ask them questions (like I do). He wonders if some of them think to themselves, "I'm the doctor here, let me do my job" or something to that effect and if still other docs are pleased to know that their patients are doing their homework. I like to think there are more of the latter than there are of the former and I do think Dr. Rub appreciates me being informed; that way together we can make educated decisions about my care and treatment.

(Oh, and Dr. Rub's new moniker -- formerly he was Dr. Blood -- comes from the fact that at the time he told us our baby would not make it, he rubbed my arm kindly, hugged me, and then rubbed me some more when he came back in the room after giving us some time alone. At today's visit, he rubbed my arm when he saw me and later when we were standing in the hallway before leaving, he rubbed my back. He has nice hands, surgeon's hands, caring and compassionate hands and that, my friends, makes for a damn fine rub--almost as good as one from my husband.)

6 Comments:

At 1:58 PM, Blogger Toni said...

Oh Dee...I am so sorry to hear about your son. I have no information on the cause. But I wanted you to let your husband know that you are not the only one who asks all the questions.

I've seriously considered being a RE myself - as I have learned lots in the last two years. My main thought is that you have to be your own advocate - you do the research and find out what you need to know. Two years ago I brought up glucophage to my RE - who said no. This summer, I brought it up again, letting him know all the studies that say it's supposed to help,etc. He finally said yes.

I hope this helps. Please know I'm giving you hugs right now.

 
At 3:37 PM, Anonymous Anonymous said...

Dee sweetie,

I am so sorry to hear about you son, so very, very sorry.

As for FSH, anything under 10 is in fact good (unlike me who came in at 9.8, so I am not borderline, I am a problem) and your number is excellent. For a woman between 37 and 41, FSH should be under 10 and will tend to be a little higher (i.e., in the 7's and 8's) than younger women who will have 4's and 5's).

With regard to egg quality and FSH -- FSH is NOT and I cannot scream this enough, a predictor of egg quality, only age can do that. The theory behind why FSH is a predictor (and a poor one I might add) of egg quality is because it is thought that since FSH only needs to 'whisper' to the eggs to get them to respond and when the level is elevated are in fact 'screaming' at the eggs to respond that is because those eggs are damaged somehow. This theory has never been proven, it is speculative. Your FSH is fine, it is not indicative of egg quality. The only thing an elevated number might suggest is that you have less eggs. Any woman over 35 can tell you that because that's kind of a big fat duh.

I can't answer about the chromosonal stuff because I haven't been down that road. Woman who are under 35 have about 40% of their eggs that are bad, even the fertile myrtles of the group; women who are between 36-40 have about 50% of their eggs that are bad; but women over 40 have this number increase to 60%, which is why it's harder to get pregnant past 42 (which is the age that my RE told me is when fertility takes the really big nosedive). I'm just spitting back what I've heard from my doctors and learned from a really good support board for women with high FSH.

I hope the rest of your tests come back fine (I'm sure they will) and you'll be back in business soon enough :

Emily
scrambledeggs

 
At 4:21 PM, Blogger amanda said...

I have zero insight. I guess I shouldn't have switched from majoring in Genetics to Psychology after only one semester. I really hope your karyotyping results come back a-ok.

 
At 4:32 PM, Blogger Stacy said...

Dee:
I hope this is what you wanted and doesnt cause you and more pain and confusion.

I tried looking this up in my Biolgy, Biocheistry, Molecular Biology, and Genetics textbooks. I finally found some reference to triploidy in my genetics text but I don’t think its anymore than you already know. What is confusing me is the 68 part of the (68XXY, -14). I would imagine the hypo refers to the loss of the chromosome 14 and the triploidy refers to the 68. You probably know we normally have 46 chromosomes. If someone has an extra chromosome (as in downs syndrome) it would be 47, +21. Meaning the individual has one extra chromosome number 21. Because you son had the 68 I would think that means he had many, many extra chromosomes but was missing the number 14 chromosome. But I can’t know for sure.

I also searched this website:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

And found this article. You might want to go to the web site and see what medical journals you can find that reference what the doctors report told you.


Here is the intro. to the article I founf:

[Massive placental hemorrhage in partial molar pregnancy due to hypotriploidy (68,XX)--prenatal diagnosis and clinical course]

[Article in German]

Henrich W, Schmider A, Sarioglu N, Neitzel H.

Klinik fur Geburtsmedizin, Charite, Campus Virchow-Klinikum, Humboldt-Universitat zu Berlin. wolfgang.henrich@charite.de

BACKGROUND: Triploidy describes the presence of threefold haploid chromosome set and is a frequent cause of early abortion. Only few pregnancies reach the second trimester. CASE REPORT: Prenatal diagnosis of a fetus in the 28th week of gestation with a hypotriploidy and with characteristic ultrasonographic features is presented. An enlarged placenta with molar changes, an oligohydramnion, severe growth retardation and minor cardiac anomalies were observed by ultrasound. Before prenatal karyotyping could be performed, immediate cesarian section was necessary due to massive intraplacentar hemorrhage resulting in a decrease of the hemoglobin level. The diagnosis of triploidy was confirmed postnatally by cytogenetic analysis of lymphocytes, the child died after 3 days. DISCUSSION: Ultrasonographic and clinical features for the diagnosis of triploidy are presented. Etiology of the rare karyotype 68,XX is discussed.

Publication Types:
• Case Reports

PMID: 11474990 [PubMed - indexed for MEDLINE]

I hope this helps although I know nothing can repair the pain your in. I am so sorry for your loss.

 
At 6:42 PM, Blogger Jen P said...

I'm sorry Dee. I'm sorry for the loss of your son and why that loss exists and how it's all so darn complex. I can't even begin to scrutinize those types of genetic numbers, although what Stacy said sounds just brilliant! I'm really, really sorry and I hope Dr. Rub gets those kerotyping results back quickfast and things proceed smoothly.

Hope you're doing well.

 
At 12:20 AM, Anonymous Anonymous said...

Hi--
hypotriploidy:
hypo us a prefix meaning low, under, beneath, down, below normal. So, hypotriploidy would refer to the fact that you were had below normal to be a true triploidy (which would have been 69 chromosomes, not 68). The monosomy 14 (-14) is why you are hypo.

Lack of the 14 is probably monosomy 14 (-14), which is most likely a fluke.

My RE's theory about abnormal random chromosomes is that as a woman ages her spindles do not go as fast during meiosis and mistakes occur.

You can read here about FSH:
http://www.inciid.org/egg-quality.html

ICSI is probably the best way to control double fertilization.

My best to you,

Marla
the middle way

 

Post a Comment

<< Home


free hit counter