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Prenatal Genetic Testing: Who May Need It and Why
Many expectant parents are concerned about the possibility that their unborn child may have genetic
disorders that could impair their long-term health or possibly the baby's capacity for survival
...

We've created a tutorial to help you comprehend genetic testing better
...

Additionally, genetic testing can ascertain with the greatest degree of accuracy whether an unborn
child has a particular genetic condition or birth defect
...

The tests can also improve your chances of having a safe pregnancy by helping your doctor customise
your care for you
...
Additionally, it's crucial to make a wellinformed choice regarding screening
...
A test to determine whether a pair
carries specific genes may be administered if both partners come from an ethnic group where there is
a higher chance of developing a particular genetic condition
...

Many genetic disorders, including Tay-Sachs, sickle cell anemia, and cystic fibrosis, call for the
presence of the gene or genes in both parents
...

Prenatal genetic testing can identify the likelihood of birth abnormalities and hereditary diseases, but
only a proper diagnostic test can be certain
...


Types of prenatal genetic testing
There are a couple of different types of genetic tests that are conducted during pregnancy
...
Here are a few
types of screenings:


First trimester combined screening is typically done between weeks 10 and 13 of
pregnancy
...
The
likelihood of genetic abnormalities including Down syndrome (trisomy 21), Edwards

syndrome (trisomy 18), and Patau syndrome is then determined using the findings of the
blood test, ultrasound, maternal age, and gestational age of the foetus (trisomy 13)
...
An
ultrasound should be performed between weeks 18 and 22 of pregnancy as part of standard
prenatal care, according to the International Society of Ultrasound in Obstetrics and
Gynecology
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

First and second trimester screening are combined in modified sequential screening
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Individual screen results are less likely to
be detected than sequential screening
...
The test
analyses tiny foetal DNA fragments in the mother's blood and can estimate the likelihood of a
chromosomal issue
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Diagnostic tests
Unlike a risk-assessment screen, diagnostic tests look for the presence of specific genetic conditions
...

These are some common diagnostic tests:




The typical time for amniocentesis is between 15 and 20 weeks of pregnancy
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The fluid is then examined for aberrant
chromosomes and hereditary birth abnormalities
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After an amniocentesis, amniotic fluid leakage and minimal bleeding
are possible, but they typically stop on their own
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An examination known as Chorionic Villus Sampling (CVS) is carried out utilising a sample
of placental tissue
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The risk of miscarriage is higher with CVS, though
...
If the
preliminary screening identifies an increased chance of any abnormalities, many parents opt to do so
...


When is the right time to undergo genetic testing?
There are various choices for genetic testing for women
...
Before deciding whether to become biological parents, you and

your partner may want to undergo carrier screening if you both have a history of conditions like Down
syndrome, Tay-Sachs, or cystic fibrosis
...
Although this is
not required, your obstetrician might advise it
...

You can choose to have a maternal serum quad test during your second trimester if you didn't have a
first-trimester screening
...
(Down
syndrome)
...
The best time to perform the quad screen is between weeks 16 and 18
of pregnancy, though it can be done at any point between weeks 16 and 23
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This thorough scan examines all of your baby's key bodily systems
...
If your doctor observes the presence of certain physical
conditions, they might give you the option of having diagnostic testing done to properly diagnose
your child's health condition
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You only need to submit a family health history
and get a blood test to get genetic screening
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The more invasive paternity test before the baby is born is another option
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You will have
a counselling session with your doctor to go through the test results after it is finished
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