Genetic testing...why & How is it done?

Question

When I called & scheduled my first pregnancy appointment the receptionist was going over the first & second appointments when I asked about ultra sound she said they only do that if we were to do Genetic testing. What is that I know I 
Should’ve asked her oops! She said they do another way to check the heartbeat & they don’t like to do too many ultra sounds.

Answer

It is a blood test and an ultrasound that will include a nuchal translucency portion. It looks for abnormalities. I would highly suggest doing it.

Answer

Genetic testing is usually done to test for down syndrome, trisomy 18 or trisomy 13. It's usually optional, but more recommended if you're high risk or over 35 (advanced maternal age).
Regardless of this, it is normal to receive 2 ultrasounds, one around 8-10wks (12wks some places), and one around 20wks (anatomy scan, makes sure baby is growing properly, checking fluids etc, and also when you usually find out gender). It's weird to me that they wouldn't schedule one after your initial doc appt to confirm pregnancy...

Answer

The genetic screening is a group of tests they do to check for probability of generic defects. The NIPT testing is a blood test done around 10w (there’s a wide range of dates that work for this) and they usually test for trisomies (extra chromosomes) they can also check the sex chromosomes as well if you want to know the gender early. There also another carrier gene blood test that can test for a variety of recessive genetic diseases (cystic fibrosis, spinal muscular atrophy, muscular distrophy and tay Sachs but your dr can help you decide which ones you may want to test for) for this test they are looking at your genes, if you come back as a carrier they will likely test your SO (both of you need to be carriers for there to be any chance of baby having the disease) then there’s the nuchal translucency ultrasound around 12weeks and they measure the fold/fluid in the back of the neck. And there’s the AFP blood test done around 16w that tests for a protein (if the protein is high it may indicate a neural tube defect like spinal bifida). All of these tests are indicators for risk, NOT a diagnosis so if you choose to have them done remember it isn’t a definite that baby has any of the issues. If there is a flag they will offer either amniocentesis or chorionic villi sampling as a further diagnostic.  I hope this helps!

Answer

Mine was offered to me, not required, so that I wouldn't have to do the more invasive amniocentesis. It ruled out the possibility of down syndrome. It also gave me an opportunity to learn the gender with certainty. I had it done at 13 weeks.

Answer

I had an ultrasound done at 9 weeks to establish due date and genetic testing through bloodwork at 19 weeks and an anatomy scan at 20 weeks

Answer

You get your blood drawn and they test it to find anything abnormal

Genetic testing...why & How is it done?

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