It's a girl!

[Cyclman]

Congrats. Get that pipeline going, won't be much time with a 3rd one new to the home.

 

[gratus fermentatio]

It's strange hearing the gender of our baby at 14 weeks but wow it makes things a bit easier to plan ahead.

We've already had two and still have much of the stuff from them. Much of it was gender neutral to begin with. So that is a relief.

And now the reality of this all is beginning to set in. I am in my 40's, and having a baby girl. wtf were we thinking?

Congrats to you & your Missus Gila! Hope everybody is & stays happy & healthy.
Regards, GF.

 

[GilaMinumBeer]

The celebration is over for now, in addition to indicating gender, prenatal testing has also indicated Trisomy 18, or Edwards disease, and our doctors seem to have drawn conclusions based on only this test. It is too soon to see anything on ultrasound and too soon for amniocentesis, so we haven't given up hope, but the physicians have already mentioned termination.

 

[hunter_le five]

The celebration is over, for now, in addition to indicating gender prenatal testing has also indicated Trisomy 18, or Edwards disease, and our doctors seem to have drawn conclusions based on only this test. It is too soon to see anything on ultrasound and too soon for amniocentesis, so we haven't given up hope, but the physicians have already mentioned termination.

Sorry to hear that man. Hoping it's a false-positive.

 

[Psylocide]

Man... positive thoughts coming your way for all of you.

Hoping for a good outcome here.

 

[DrunkleJon]

Ouch. Here is hoping the best possible to you and the Mrs. It is never easy, or an easy decision.

 

[fuzzy2133]

Prayers that it is a false-positive.

 

[LabRatBrewer]

I am so sorry to read that. My thoughts are with you.

 

[chocotaco]

That is an awful thing to hear. But take heart that most positive screen results turn out to be false positives.

http://www.trisomy18.org/site/PageServer?pagename=parents_afp

Because this is a screening test, only about 11% of those who receive a positive result for Trisomy 18 in the screen will actually have a pregnancy affected by Trisomy 18

Your doctors discussing termination based on what is 89% likely to be a false positive seems downright irresponsible to me. Don't lose heart.

 

[NickTheGreat]

Sorry to hear this. Our docs told us that those tests don't show an actual diagnosis, just the need for further testing.

Will be hoping and praying for your family.

 

[GilaMinumBeer]

That is an awful thing to hear. But take heart that most positive screen results turn out to be false positives.

http://www.trisomy18.org/site/PageServer?pagename=parents_afp



Your doctors discussing termination based on what is 89% likely to be a false positive seems downright irresponsible to me. Don't lose heart.

We have not lost heart, and will not until we do have an amnio. But, unfortunately, what you have linked does not apply. Our screen was not AFP with it's high rate of false positives.

Instead, our screen was cffDNA. Now, what I have learned is that while cffDNA does a have a much lower rate of false positives 0.07%, this percentage is based on a much lower sample set of 38, IIUC.

 

[GilaMinumBeer]

As an aside, my wife and I opted to insist that we meet with the doctor we were originally scheduled for. He was night and day different from the previous specialist of the same qualifications.I had very few questions for him because there was very little that he left undisclosed, undiscussed or unexplained. He was even the type who could offer some positive explanation to a very negative result. In that he made a point to explain where, and how things can be wrong and why. The following is a summary of that visit yesterday.

Doctor visit yesterday was night and day different from the previous. This doctor actually took time to explain EVERYTHING and to give suggestion for and against making any decisions for anything from this point forward. A LOT of time was spent talking about reason for and against getting an Amniocentesis. The one reason that stuck in my wifes head was that of "if the amniocentesis does contradict the previous test, in that the baby is negative for Trisomy 18, then that will eliminate any potential stress from the idea of it from that point forward." However, he did say that he saw no indications of anything wrong with the baby per ultrasound. Everything is in it's place and everything appears to be doing it's job properly. He did offer a disclaimer tho. He said that we are now in the stage of development where, if Trisomy 18 is in play, that we would begin to see a major decline in development.

Sheila opted for the amnio. We should have the FISH results by about Thursday and a the full panel results in about 2 weeks.

 

[DrunkleJon]

Good to hear some optimistic news. Positive thoughts headed your way.

 

[GilaMinumBeer]

 

[GilaMinumBeer]

Good to hear some optimistic news.

Yes, while still very cautiously optimistic, at least this doctor is optimistic. A much needed reprieve from our first experience with the previous doctor. Boggles the mind. She'd have supported us making a decision on insufficient information.

The difference, I think, is this doctor has not stopped questioning the science. He's seen it where things do not happen as you would expect. And I think he is still curious as to why.

 

[Psylocide]

Wishing you guys the best of luck and positive thoughts. I was wondering what ever happened with this, thanks for the update.

I wish everyone well and hope that everything turns out for the best.

 

[edroberts]

The celebration is over for now, in addition to indicating gender, prenatal testing has also indicated Trisomy 18, or Edwards disease, and our doctors seem to have drawn conclusions based on only this test. It is too soon to see anything on ultrasound and too soon for amniocentesis, so we haven't given up hope, but the physicians have already mentioned termination.

The prenatal tests offered by folks like Sequenom, Progenity, etc. quote a 99% detection rate, but they also have a 20% false alarm ratio. That said, that totally sucks. We've lost 3 pregnancies. Not sure of cause, but the emotions are still there.

Our youngest has Trisomy 21 (down syndrome), which of course is no where near as serious as T18 (even with his heart problem). Yet, our doctor still went down the "you can terminate" route with the prenatal test.

Wait for an amnio and surround yourselves with those that care one way or another. You'd probably be surprised how many have gone down the same road.

 

[LAHammer]

Praying for the best outcome possible - whatever that may be.
Glad you were able to find a doctor to help you work through this.

 

[NickTheGreat]

Will still be hoping and praying for you and your family.

 

[GilaMinumBeer]

The prenatal tests offered by folks like Sequenom, Progenity, etc. quote a 99% detection rate, but they also have a 20% false alarm ratio. That said, that totally sucks. We've lost 3 pregnancies. Not sure of cause, but the emotions are still there.

Our youngest has Trisomy 21 (down syndrome), which of course is no where near as serious as T18 (even with his heart problem). Yet, our doctor still went down the "you can terminate" route with the prenatal test.

Wait for an amnio and surround yourselves with those that care one way or another. You'd probably be surprised how many have gone down the same road.

Yes, I have become aware. PubMed even includes studies that suggest it is not as accurate as purported for reasons that it cannot screen out false positives. One abstract is even titled "Should we sound the alarm on cell free fetal DNA". Furthermore, Sequenom settled a class action lawsuit, was issued a cease and desist, and renamed their test.

It boggles the mind that a physician would take the stance that cffDNA is substantial enough to make that decision. Our previous physician treated cffDNA as a diagnosis despite the disclaimer from Sequenom that is should not be considered as such. It makes you wonder why and was a major basis for our decision to find a different physician.

As for the Amnio, the samples were taken yesterday. We will have the rapid results later this week.

 

[GilaMinumBeer]

I was wondering what ever happened with this, thanks for the update.

I will continue to update until this come to a conclusion, for better or worst.

 

[Psylocide]

I will continue to update until this come to a conclusion, for better or worst.

Yeah... didn't mean to sound nosy or anything. Was just genuinely curious as to where you guys were at and what-not.

Again, hoping for the best here, as I'm sure all of us are.

 

[GilaMinumBeer]

Rapid results, via FISH, were announced to us last Thursday. That being full trisomy 18. Meaning a third copy of chromosome 18 was present in each and every cell. The worst case scenario for this chromosomal condition. The full results were not expected until later this week ( Friday 30 ).

At some point within the last week both my wife and I settled ourselves on letting Amelie go if the complete cytogenisis aka karyotype also showed full trisomy18. Perhaps from a spiritual standpoint that is what Amelie needed from us.

At 18 weeks and 7 ounces, Amelie decided for us and her heart stopped.

Her mother is at hospital undergoing induced delivery. She insisted that I attend the boys and maintain their normal routines despite having explained to them what is happening.

We will most likely have Amelie cremated so that she can be with us when our time comes.

This, truly, is the best closure to what has been the worst nightmare of our lives. The alternate ending would have haunted us forever. Tonight, I will drink to Amelie with a Bernardus Abt 12.

 

[Scriv]

And I shall raise a glass with you.

 

[jtratcliff]

My condolences...

 

[brewer20D]

Me too brother..... You and your wonderful family are in our thoughts and prayer!

 

[LabRatBrewer]

Heartbreaking and heartfilling. My thoughts are with you.

 

[Melana]

My heart breaks for your loss. Having lost one myself I understand your pain.

 

[edroberts]

Man, that sucks. My condolances. Prayers for healing for all of you during this time. We've lost 3 ourselves. Having her pass without making a decision one way or another doesn't stop the pain, but in time it may help with some of the healing.

 

[Poobah58]

Congrats!