Archive for genetic testing

16w 3d– Amnio

Posted in Emotions, Genetic Screening, Pregnant with tags , , , , , on July 17, 2012 by Me

Amnio is tomorrow… or I guess later today. I’m starting to get really nervous about it, and worried that something bad is going to happen to the Spawn. I mean, I know that logically the strongest odds are that everything will be ok, but I can’t help the pregnant paranoia, ya know?

Ugh. I’m hoping that I can sleep tonight. And I’m hoping that I don’t have horrific dreams about terrible things happening to the Spawn…

I’ll post more in the next couple of days, I’m sure. For now, I just wanted to get this off my chest.

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11w 3d– Nuchal Translucency Scan (NTS)

Posted in Emotions, Genetic Screening, Pregnant with tags , , , , , , , , , on June 12, 2012 by Me

So today was the first visit with the Perinatal Specialist (because of my age). I had another ultrasound done, as well as the  nuchal translucency scan (NTS). This scan helps detect the risk of genetic and heart abnormalities. We also met with a genetic counselor to talk about the risks of genetic abnormalities– for a woman my age, my child has a 1/17 (5.8%) chance of having a genetic problem. That’s a really scary number. Although an optimist would tell me that it’s a 94.2% chance of NOTHING being wrong…

The good news– the baby was super active and appears to be developing normally (actually measuring at 12w).

The not-as-good-news– the nuchal fold measured at 3.0 mm, which is on the cusp of normal (according to the Dr. normal is under 3.0 and abnormal is over 3.0). This means that the baby could be at increased risk for a chromosomal defect (such as Down’s Syndrome) or a congenital heart defect. That being said, 9 out of 10 babies with a nuchal fold of less than 3.5mm are perfectly normal. The only way to be sure is to do either a Chorionic villus sampling (CVS) or an Amniocentesis, both of which have their associated risks. Although the CVS can be done sooner (the amnio can’t be done until 16 weeks), it has a  higher risk of miscarriage (1/100 vs 1/1000), and doesn’t give you as much information as the amnio does. We’ve decided on the amnio, and the test is scheduled for 7/17. It takes about two weeks to get the results back after the procedure is done.

Also– my blood pressure was up to 142/82 from 107/71 a month ago. Granted, they took the reading AFTER I was given the above information, and it took the machine 5-6 tries before the machine was able to get an accurate reading. The Dr. isn’t worried about it, since it was one anomalous reading, but of course it’s something else for me to worry about. Stress levels have been high here, given that Stan’s last day of work was last week, and nothing else has come to fruition yet. I’m really praying that my family is going to come through with the help we need to get us through the summer, until he is teaching again.

I am trying hard not to stress about the whole NTS thing. Of course I’ve been scanning the internet and trying to make it give me information that it has no way of knowing. I just desperately want this baby to be healthy (who doesn’t!?) and it is so scary to think that there might be something wrong. And to know that I can’t find out anything more about it for another 5 WEEKS, or actually 7 weeks, since we have to wait two additional weeks for the test results. So, in the meantime I have to go on as if everything is ok, and try not to worry. Awesome. So all of your good thoughts and prayers are appreciated…

The nice thing is that my specialist is also pregnant and AMA (Advanced Maternal Age), and she had an NTS reading of 2.8, and everything turned out fine.

Next week is my 12 week appointment with my regular OB– Saturday is 12 weeks, so I will attempt to enter this next trimester cautiously optimistic.