Question 1

how often do i need to go in for prenatal testing?

Accepted Answer

Depends on risk: Prenatal care involves regular OB visits, but prenatal testing ranges from general screening (level i ultrasound, triple/quad/integrated screen, amniocentesis chromosomes) to gene tests when a prior child was affected--usually at 10-18 weeks . Realize that triple/quad/integrated screen looking for Down syndrome markers is inaccurate, sometimes leading to amnio and termination. Caveat emptor.

Question 2

is prenatal testing available for every recessive disease?

Accepted Answer

No: There are now hundreds of recessive diseases for which prenatal testing is available, and more are being added all the time, but there are thousands of recessive diseases, most of them quite rare.

Question 3

what is noninvasive prenatal testing (nipt)?

Accepted Answer

A blood test: Nipt is a new technology which measures the amounts of fetal genetic material in the mother's blood. It is considered "noninvasive" because unlike traditional amniocentesis (amnio) it does not require inserting a needle into the womb to collect cells. Studies show that results may be just as good as an amnio, but it the test is still limited to select candidates and amnio is still the standard.

Question 4

prenatal testing for abortion purposes?

Accepted Answer

Minority of cases: Performing tests may find potential problems which might benefit from interventions or early delivery. Pregnancies requiring or benefitting from cesarian delivery i.e. Placenta previa or breech presntations. Can begin planning for chidren with special needs & identify support groups and resources.  Some parents to be can not face the future with child with major deformities requiring fulltime care.

Question 5

which method of prenatal testing analyzes chromosomes?

Accepted Answer

Invasive: The two methods for testing fetal chromosomes are chorionic villus sampling and amniocentesis.  There is research on obtaining fetal dna from maternal blood, but that is not yet in widespread use.

Question 6

what can you do to detect trisomy with prenatal testing?

Accepted Answer

CVS or amniocentesis: Trisomies can be detected with chorionic villi sampling (cvs) or amniocentesis.  Cvs is performed between 10-13 weeks, and involves removing a small sample of the placenta usually using a small tube, or catheter that is inserted through the cervix.  Amniocentesis is performed between 15-20 weeks gestation and is a procedure where amniotic fluid is removed from around the fetus using a needle.

Question 7

any women out here who has done prenatal testing for genome?

Accepted Answer

Many...: Many women do pre-natal genetic screening if there is the possibility of passing a familial genetic disease.  This is the only pre-natal screening that can be done which is covered by insurance.

Question 8

are there fewer and fewer cases of down syndrome now that we have prenatal testing?

Accepted Answer

No: But many of those cases are detected by the currently available testing, and some women elect to terminate their abnormal pregnancies.  So there may be fewer abies born with down's syndrome.

Question 9

would a basic karotype for genetic testing detect or give a clue if someone has muscular dystrophy? what about prenatal testing?

Accepted Answer

No: A basic karyotype will only tell you the number of chromosomes and detect some deletions and translocations. There is genetic testing available however for musculodystrophy. Hope this helps.

Question 10

can you do prenatal testing for breast cancer?

Accepted Answer

No: Most breast cancer is not due to a gene mutation.  There is no prenatal test for breast cancer.

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Doctor answers about:

Prenatal testing

A member asked:

How often do i need to go in for prenatal testing?

A member asked:

Is prenatal testing available for every recessive disease?

A member asked:

What is noninvasive prenatal testing (nipt)?

A member asked:

Prenatal testing for abortion purposes?

A member asked:

Which method of prenatal testing analyzes chromosomes?

A member asked:

What can you do to detect trisomy with prenatal testing?

A member asked:

Any women out here who has done prenatal testing for genome?

A member asked:

Are there fewer and fewer cases of down syndrome now that we have prenatal testing?

A member asked:

Would a basic karotype for genetic testing detect or give a clue if someone has muscular dystrophy? what about prenatal testing?

A member asked:

Can you do prenatal testing for breast cancer?

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