I had my a/s today.Both babies have echogenic intracardiac focus and Baby A also has choroid plexus cyst. These were described to me a soft markers for chromosome abnormalities, but since all my blood work has been normal she said the chances of them actually having any issues is low. They are identical girls and all the major markers are normal. I follow up with MFM in 2 weeks.
Anyone have a positive outcome after being faced with news like this? Prayers appreciated.
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Unexplained Infertility
After two Clomid cycles, three injectable IUI cycles, two IVFs, two miscarriages, and one lap surgery, IVF #2 has brought us our little boy!
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While not with twins, my eldest, who is now 4, presented both on his 20 week ultrasound but no other soft markers. Rather serendipitously, on of the doctors in my group is also the area expert on choroid plexus cysts and echogenic intracardiac focuses and so we got a history lesson:
Around 2000, ultrasound technology took a huge leap forward. With this leap came a sudden occurrence of these two things. While trying to make heads or tails of what was happening, doctors began to notice a possible correlation between the occurrence of these now called "soft markers" and chromosomal abnormalities - most specifically downs syndrome - when they are combine with other more firm markers such as club foot or abnormal blood work. This lead to a general acceptance of a correlation.
Around 2007 or so, a study set out to prove this correlation. However, when the researchers amassed the data, they realized that the events were way more common than they had expected. So much so that pregnancies monitored with 'modern' ultrasound technology had a staggering amount of events. When the researchers tracked the health of babies at birth who displayed these events they found that the spread of these events across babies with concerns at birth and those with none was statistically comparable. When the babies who showed one or both of these events were compared to those without them, after 3 years they found that there was no difference in health between the two groups.
In our case, we did a follow up ultrasound around 34weeks. The tech scanned around for like 20 mins and then got the radiologist and a whole bunch of other techs in the room to look. After a few mins of them looking and me choking back tears, my DH burst out "For the love of God! What's wrong with our son!" and the radiologist simply said "He's incredibly tall!" After seeing how alarmed we were and realizing we were waiting to hear about these the cyst and focus, the radiologist apologized profusely said told us that yeah, both were still there but he wouldn't expected it to go away and that some babies just have them and some don't.
When DS was born he had a little heart murmur, that was caused by a tiny little hole in his heart (our second son also had this but without the focus or cyst). They checked his hole with US every 6 months or so, to check if it had closed and it did sometime before he turned three.
Completely unrelated to either the cyst or focus - DS was almost 26 inches long at birth so we understood why the radiologists and techs were so interested.
Absent any other firmer marker such as abnormal NLT, blood work, or concerning anatomy (such as a club foot) both of these things - even when presented together - are nothing more than an excuse to double check things.
With identical twins, you should be seeing an mfm anyway so try your best to relax and look forward to seeing your girls again in 2 weeks and keep us posted! Good luck!
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