After a great deal of haranguing, I got the results. Meiotic non-disjunction (which, in English means, the chromosomes did not separate properly during the process of making an egg or sperm) has happened again.
During my second pregnancy, it happened in the form of a monsomy of the X chromosome, which means either the egg or sperm had one less X chromosome that it should have. Monosomies are considered to be more likely a sperm error (a sperm that is missing a chromosome is lighter, can swim faster, yada, yada).
This time, it was most likely to be an egg error- a Trisomy, of chromosome 4. And it was a girl.
On googling, my blood ran cold- trisomy 4 appears be one of the rarer ones, and more often its a partial trisomy, (you have a 3rd copy of only one half of that chromosome) and the child can make it to birth, but obviously, with major, major issues. Thank god my baby and I was spared that. Often, miscarriage is not about nature being cruel, its about nature being kind, and nature was kind here, but only AFTER the bloody trisomy had resulted. Bloody nature.
I'd had a bad feeling about this pregnancy from the time that the first beta and progesterone values had come in, because they were both far lower than my levels for the first 2 pregnancies (though, in normal range for the population) and the progesterone fell sharply by the 7th-8th week period-this was all in keeping with the observation that some (but not all aneuploidies) can have lower progesterone and beta-HCG levels. Its fascinating, apparently trisomy 21 has higher HCG levels, but Trisomies 13 and 18 have lower progesterone and beta-HCG levels---wow, this suggests that complex mechanisms behind aneuploidy of different chromosomes, just because we don't understand it in the slightest, does not necessarily mean that its completely random. Chromosome 4 aneuploidy has not been studied, because its too rare, but my scenario also points to reduced hormone levels with this one.
What next? IVF with PGD obviously, but I'm trying to end up with a method more accurate than FISH, which does not analyze all the chromosomes, and would (probably?) have not caught this one. The goal is to get microarray done with IVF in India-- this one has several logistical issues, lets see how they can get worked out.
But as for now, I'm so very glad to have an answer. The point where we get grateful for small mercies is a sad one indeed.
During my second pregnancy, it happened in the form of a monsomy of the X chromosome, which means either the egg or sperm had one less X chromosome that it should have. Monosomies are considered to be more likely a sperm error (a sperm that is missing a chromosome is lighter, can swim faster, yada, yada).
This time, it was most likely to be an egg error- a Trisomy, of chromosome 4. And it was a girl.
On googling, my blood ran cold- trisomy 4 appears be one of the rarer ones, and more often its a partial trisomy, (you have a 3rd copy of only one half of that chromosome) and the child can make it to birth, but obviously, with major, major issues. Thank god my baby and I was spared that. Often, miscarriage is not about nature being cruel, its about nature being kind, and nature was kind here, but only AFTER the bloody trisomy had resulted. Bloody nature.
I'd had a bad feeling about this pregnancy from the time that the first beta and progesterone values had come in, because they were both far lower than my levels for the first 2 pregnancies (though, in normal range for the population) and the progesterone fell sharply by the 7th-8th week period-this was all in keeping with the observation that some (but not all aneuploidies) can have lower progesterone and beta-HCG levels. Its fascinating, apparently trisomy 21 has higher HCG levels, but Trisomies 13 and 18 have lower progesterone and beta-HCG levels---wow, this suggests that complex mechanisms behind aneuploidy of different chromosomes, just because we don't understand it in the slightest, does not necessarily mean that its completely random. Chromosome 4 aneuploidy has not been studied, because its too rare, but my scenario also points to reduced hormone levels with this one.
What next? IVF with PGD obviously, but I'm trying to end up with a method more accurate than FISH, which does not analyze all the chromosomes, and would (probably?) have not caught this one. The goal is to get microarray done with IVF in India-- this one has several logistical issues, lets see how they can get worked out.
But as for now, I'm so very glad to have an answer. The point where we get grateful for small mercies is a sad one indeed.
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