Happy New Year everyone!
I hope everyone is doing well, and that things are moving along smoothly! For some of us (and 2nd time mom's earlier) you might be feeling movement or quickening by now (18-24 weeks), or may still be unsure as to whether it could be still gas. Some may be just finding some relief from morning sickness, while others are still struggling with it all day. I wanted to reach out and offer any answers to any mom's who might have questions and be going through their prenatal screening right now, as for some it is close to or right at the time for tests such as Amniocentesis or CVS.
Having gone through all kings of testing, genetics and otherwise, (our first born was prenatally diagnosed with Down syndrome) I became a genetics guide for diagnosis and also prenatal testing locally through our hospital. If anyone is wondering how the testing goes, or how to decipher some results like NT scans etc, please feel free to send me messages or posts. I don't get onto the boards individually everyday, but I do get my emails everyday so if you do happen to send me direct messages here on MH I will get them more immediately. I actually will be having my Amniocentesis done this Thursday 6th Jan as I am in week 16. Having an Amnio is a very personal choice and depending on why may make the benefits out weigh the risks (which are an additional 0.5% to the normal rates for loss). I have had one before, which is how we learned of our first son's diagnosis, so I can tell you what it was like for me. But each and every person is different. Besides the definitive results for chromosomal abnormalities it can also tell you the gender of your baby - which is also something we are looking forward to. Certainly if you do receive results that you are not comfortable with or find out news that is surprising, please know that I do counsel regarding these. Learning results that you do not expect is quite difficult but as a mom who has gone through it, I would be the first to tell you, it wasn't what we thought it would be - but that's a different story.
Please do let me know if anyone has questions, prenatal testing and genetics are my forte. Many of us are now in our 2nd trimester and at this time can find out the gender of our babies by ultrasound. If you are not planning on having further genetics testing or prenatal screening done, I can still definitely provide mom's with markers (characteristics that can be related to or specifically occurring in chromosomal abnormalities) that can be seen or noted on ultrasounds. These ultrasounds are usually/normally conducted for anatomy at the 18 week time frame and are part of regular prenatal care by an OB or Doctor.
Keep well everyone!
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader