So that's the end of your second prenatal visit.
Any other questions for me?
My husband and I are really anxious about our baby.
It's like we're in the dark until she's born.
Is there anything that we can do?
I think prenatal screening might be right for you.
Let me tell you a little bit about it.
What is prenatal handle screening?
Prenatal screening encompasses a variety of tests that are used to determine
whether a fetus has a genetic disorder or abnormality. Expecting parents with a family
history of genetic disorders or those from high risk populations are encouraged
to get prenatal testing done and obtain information about their baby's health.
However, prenatal testing is available to all pregnant individuals.
Anyone who's interested may contact
their physician to determine which test is right for them.
Why is prenatal screening so important?
These tests inform parents whether the baby is at risk of asserting genetic conditions,
which can then influence the type of care they get during the pregnancy.
Pregnancy is associated with a lot
of anxiety, especially for first time parents.
So through genetic screening,
parents can be mentally prepared to take care of a child that requires special care
and make any sort of accommodations that they will need for this baby.
These results also inform doctors and help with the treatment plan,
which can include the prescription or restriction of certain medications.
Lastly, it allows parents to take precautions regarding the baby's health,
specifically through diet, drinking and lifestyle changes.
So what comes first?
Carrier testing is a test done to see whether you carry specific genes for genetic
disorders and the likelihood of passing it onto your child, you can get it done even
before becoming pregnant or at any point during the pregnancy.
A saliva, blood or cheek tissue sample is taken from the parents and the DNA is
analyzed either broadly or targeted towards a genetic disease,
these tests are known as expanded and targeted carrier tests.
Some of the most commonly screened for diseases include cystic fibrosis, fragile
X syndrome, sickle cell disease, and spinal muscular atrophy.
Let's take a pause. Before we continue,
what do you know about the anatomy of pregnancy?
Not too much, but I do know that my baby is tucked inside my uterus.
I am always happy to learn more.
Okay, then let's take a closer look at the inside of your body.
Going over some anatomy,
the baby is inside an organ in your uterus
that develops during pregnancy called the placenta.
It helps provide food and nourishment to the baby and they share the same DNA.
The baby sits inside a space called the amniotic cavity and is cushioned
by the amniotic fluid, which is a clear yellow liquid inside the sack.
The next test that we will be covering is the noninvasive prenatal testing, or N.I.P.T.
An N.I.P.T. can test for any sort
of differences in the baby's DNA from what is the clinical normal.
This includes conditions such as down syndrome.
In fact, one in a thousand babies have down
syndrome and is the most common DNA variation.
An NIPT is a good way to be aware
of the facts and be better prepared for your child.
This test can be done at any time from time before pregnancy to the.
Birth of your child.
All that is required is a blood sample
from the pregnant mother, which causes no harm to the baby.
So how does it work?
Well, let's take a look.
As I said before, the placenta and the baby share the same DNA.
Some of that DNA is actually found within
the mother's bloodstream along with the mom's DNA.
So when the blood is collected, doctors take a look at the fetal DNA
that is in the blood and see if there are any deviations from the typical.
Hold on a minute.
So this will confirm that my baby will have a congenital anomaly?
No.
The carrier screening and N.I.P.T. are only screening tests.
That means that they determine whether you are at a higher risk than average
pregnancies for having a congenital anomaly.
Which is when you're born with a difference.
How would I know for sure if my baby will have one?
If you do come back as high risk
for the screening test, we can always refer you for a diagnostic test.
A diagnostic test confirms what a screening test says.
Let's look into that.
Let us explore amniocentesis.
Now, Amniocentesis is another test
which can be done between the 15th to 20th week of pregnancy.
During the appointment, the patient is asked to sign a consent
form for the procedure and their vitals will be measured.
Next, the baby is checked.
An ultrasound machine is used to check
the baby's heart rate and its position in the placenta.
A needle is then inserted through
the stomach wall into the uterus to obtain a sample of the amniotic fluid.
This fluid will then be sent for DNA
analysis for chromosomal, anomalies or other matters.
Amniocentesis is used to confirm the results of carrier testing and N.I.P.T.
Alright, that's it.
Any questions?
Thanks for all the information, doctor.
I will talk with my husband and see where we want to go from here.
Alright, if you have any more questions, let me know.