Just saw the pathology report.. a little girl

Malka7997 · December 2011

Maybe it's not such a good idea that I can see these reports without talking to my Dr. first. The internet is a crazy resource anymore.

I'm lucky (I guess) to know why this happened and that there really was nothing I could have done different. I didn't have one too many pepsi's or it wasn't from the time my dog stepped on my tummy. Triploidy- an extra set of chromosomes. From what I have been reading I could have carried her full term and lost her days after birth. I feel blessed I wasn't put through that. They say God doesn't give you more than you can handle. He has put me through the ringer the past couple of years and I really think that could have sent me packing to a white room (not joking).

I posted the report below for you to read.

RESULT: Indication: Spontaneous abortion/ fetal demise/ stillbirth

Metaphases Counted: 20 Banding Technique: GTW
Metaphases Analyzed: 5 Number of Cultures: 4 Banding Resolution: 400
Metaphases Karyotyped: 2 Subculture: Y Dept. Section: POCCVS

RESULTS: 69,XXX
Abnormal karyotype, female

INTERPRETATION:
Cytogenetic analysis shows an entire extra haploid set of chromosomes, resulting in triploidy. This karyotype
is generally incompatible with fetal survival.
Triploidy accounts for approximately 17% of chromosomally abnormal abortuses, with most triploid fetuses
aborted early in pregnancy. The extra haploid set can be contributed by either the mother (digyny) or the
father (diandric partial hydatidiform mole) [A Baumer, A. et al., Eur. J. Hum. Genet. 8(12): 911-917,
2000].
RECOMMENDATION:
Genetic counseling.
COMMENT:
No other chromosome abnormalities are observed. The standard cytogenetic methodology utilized in this
analysis does not routinely detect subtle rearrangements or low-level mosaicism and cannot detect
microdeletions. Also, it cannot detect molecular cytogenetic abnormalities (such as microdeletions and
microduplications) that may be detectable by microarray analysis.
Testing performed by Genzyme Genetics. See report for specific testing location.

Note: An exclamation mark (!) indicates a result that was not dispersed into the flowsheet.
Document Creation Date: 12/22/2011 8:49 AM
_______________________________________________________________________

-----------------

The following results were not dispersed to the flowsheet:

Chromosome Analysis POC Tissue, Indication: Spontaneous abortion/ fetal demise/ stillbirth

Metaphases Counted: 20 Banding Technique: GTW
Metaphases Analyzed: 5 Number of Cultures: 4 Banding Resolution: 400
Metaphases Karyotyped: 2 Subculture: Y Dept. Section: POCCVS

RESULTS: 69,XXX
Abnormal karyotype, female

INTERPRETATION:
Cytogenetic analysis shows an entire extra haploid set of chromosomes, resulting in triploidy. This karyotype
is generally incompatible with fetal survival.
Triploidy accounts for approximately 17% of chromosomally abnormal abortuses, with most triploid fetuses
aborted early in pregnancy. The extra haploid set can be contributed by either the mother (digyny) or the
father (diandric partial hydatidiform mole) [A Baumer, A. et al., Eur. J. Hum. Genet. 8(12): 911-917,
2000].
RECOMMENDATION:
Genetic counseling.
COMMENT:
No other chromosome abnormalities are observed. The standard cytogenetic methodology utilized in this
analysis does not routinely detect subtle rearrangements or low-level mosaicism and cannot detect
microdeletions. Also, it cannot detect molecular cytogenetic abnormalities (such as microdeletions and
microduplications) that may be detectable by microarray analysis., (F)

panacea05 · December 2011

I hope this information is able to give you a bit of closure. {hugs}

Malka7997 · December 2011

Thank you it definitely does.

RedRose84 · December 2011

I'm so glad you got results and some answers. I'm so sorry for the loss of your little girl. She's an angel now. :] **Hugs**

kellyrn9956 · December 2011

My baby had the exact same genetic issue, yet it was a boy. My RE said the most likely scenario is that two sperm fertilized one egg. Luckily, it isn't likely to repeat (thank goodness), and like you said, I felt some comfort knowing that I could have carried him to term and lost him directly after birth. This way, he didn't suffer.

I found the report to be comforting, yet devastating at the same time.

PM me if you have any questions. I've read a lot on the topic.

Malka7997 · December 2011

Thanks Kelly I will def pm if I have any questions.

Bloomraiser I had a d&c and my dr. asked if I wanted to have genetic testing done. One of the things they can find out is the sex. It doesn't always work out that way though. I was at 12wk 3d when my m/c was discovered so the baby was a decent size.

karencz · December 2011

I hope this helps bring closure and I'm sure your little girl is in heaven and smiling down on you. ((hugs))

itsmevkb · December 2011

I am so sorry for your loss and I'm glad you have an answer. I remember people not understanding why I was so upset when our pathology report came back genetically normal female. I so badly wanted an answer as to why we had lost her.

Big hugs to you. Answers or not, losses are hard.

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Just saw the pathology report.. a little girl

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