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Doctor insights on: Patau Syndrome Prenatal Testing

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

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

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. ...Read more

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Dr. Richard Roberts
55 doctors shared insights

Prenatal Screening (Definition)

Prenatal screening is the group of procedures used in pregnancy to look for diseases and genetic mutations in the fetus (baby inside Mom). Screening is usually done as early as practical in the pregnancy. Methods include testing the pregnant woman's blood, scanning the fetus with ultrasound, sampling the amniotic fluid ...Read more


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What is the testing process like for patau syndrome?

What is the testing process like for patau syndrome?

13 trisomy: Patau syndrome is caused by13 trisomy. It can be suspected by find the characteristic malformations including, cleft lip/palate/ eye and ear abnormalities, scalp defects, congenital heart disease and polydactyly. Definitive diagnosis is by chromosomal analysis revealing an extra 13 chromosome. Testing can be done from blood, skin, a cvs or amniocentesis sample or in tissue from a poc. ...Read more

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

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

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. ...Read more

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Prenatal testing for abortion purposes?

Prenatal testing for abortion purposes?

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. ...Read more

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Which method of prenatal testing analyzes chromosomes?

Which method of prenatal testing analyzes chromosomes?

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. ...Read more

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What can you do to detect trisomy with prenatal testing?

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. ...Read more

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

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

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. ...Read more

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Is prenatal testing safe? I need to know out if two men who the dad is

Is prenatal testing safe? I need to know out if two men who the dad is

First do This: Before you do that go to this web page: http://www.Babymed.Com/conception-calculator. Play around with the dates to see if you can narrow it down to a five day window of possibility. ...Read more

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What method of prenatal testing analyzes hormone levels?

Amniocentesis or PUB: Mostly an amniocentesis is done if a hormone level in the fetus needs to be done; extremely rarely percutaneous umbilical blood sampling can also be done. ...Read more

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What is noninvasive prenatal testing (nipt)?

Fetal DNA: Testing for free fetal DNA is available for detection of trisomies either from 9 weeks 0 days or 10 weeks 0 days, the latter being much less expensive. The results are available in 7 to10days with 99.99% accuracy. Both ACMG and FACOG recommend confirmation of an abnormal result with either amniocentesis or CVS. other non-invasive tests include fetal ultrasonography and prenatal screening. ...Read more

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Is prenatal testing available for every recessive disease?

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. ...Read more

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What are you looking for in prenatal testing for huntington's disease?

What are you looking for in prenatal testing for huntington's disease?

Prevention: If a parent is known to carry the huntington's mutation, there is a 50% chance they will pass this to their offspring. If undergoing ivf, the embryos can be testing for the gene, so that only unaffected embryos will be implanted. If already pregnant, chorionic villus sampling or amniocentesis can test for the gene, and affected pregnancies have the option of termination. ...Read more

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Why can't you wait until after babies are born to do prenatal testing if suspect chromosome or other problem?

Why can't you wait until after babies are born to do prenatal testing if suspect chromosome or other problem?

Prenatal screening: You can wait until after birth, but the value of 'prenatal' testing - which means before birth - is it can be done early. Parents feel knowing about baby's medical problems before birth is good for coping and adjusting. Doctors who know in advance special care or surgery is needed can also anticipate and plan better for the baby's needs. But a mom may decline prenatal screening if she chooses. ...Read more

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My pastor told me to avoid prenatal testing since I would just worry and not act on the information. Should i?

My pastor told me to avoid prenatal testing since I would just worry and not act on the information. Should i?

Your decision: Whether to do prenatal testing or not is your decision, and not your pastor's. It can certainly cause some worry, but so can not knowing whether something is wrong with a baby. And whether to act on the information is also a very personal decision. Even very religious people sometimes choose to terminate a pregnancy if they know that a baby is going to die or have a very limited life. ...Read more

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Is prenatal testing for thalassemia safe for baby?Is there any risk for baby ?My wife is 16 week pregnant and we both are diagonsed as minor carrier

Risks are small: With you and your wife being carriers, i suspect that the testing you are thinking about is amniocentesis. Amniocentesis is safe but not risk free. Many providers quote a miscarriage rate of around 1 in a 1, 000. But talk to your doctor about specifics in their practice and your concerns. The information from the testing may be valuable for your family. ...Read more

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Prenatal testing for cystic fibrosis available?

Prenatal testing for cystic fibrosis available?

Yes. Talk to OB.: Cystic fibrosis is an inherited genetic disorder. Prospective parents can be tested to see they are carriers and discuss with genetic counselor the chance of having child with CF if one/both are carriers. Post-conception testing is also available. Talk to your ob. Here's link for additional info: http://www.Acog.Org/~/media/for%20patients/faq171.Pdf?Dmc=1&ts=20120518t1505423920. ...Read more

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I forgot to schedule my first prenatal screening for down syndrome, should I be concerned?

I forgot to schedule my first prenatal screening for down syndrome, should I be concerned?

Some skip it: The information is available to you and for your peace of mind. Some don't care to know and avoid it.I find it helpful to most in doing life planning. ...Read more

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What to do if i forgot to schedule my first prenatal screening for down syndrome?

Depends: If the outcome is important to you schedule it now. If not, you are accepting the level of information women had in the 1960's. ...Read more

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Can you do prenatal testing for breast cancer?

Can you do prenatal testing for breast cancer?

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

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I had a prenatal screening for Down syndrome in my fetus and my results was 1:182. Does that mean my baby have ds. Plz help.

I had a prenatal screening for Down syndrome in my fetus and my results was 1:182. Does that mean my baby have ds. Plz help.

No: Prenatal screening for conditions such as Down syndrome are simply estimates of how likely it is (in this case, a 1 in 182 chance). The accuracy depends on which test was used, when it was performed, and as with all tests, there are false positives and false negatives. If you want to have a better idea, you may want to consider amniocentesis or CVS (chorionic villus sampling). ...Read more

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Would a basic karotype for genetic testing detect or give a clue if someone has Muscular Dystrophy? What about prenatal testing?

Would a basic karotype for genetic testing detect or give a clue if someone has Muscular Dystrophy? What about prenatal testing?

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. ...Read more

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Does noninvasive prenatal testing(cfDNA )capture baby's genetic defects?Is amniocentesis better for more accurate results? Im 31&12 weeks pregnant.

Does noninvasive prenatal testing(cfDNA )capture baby's genetic defects?Is amniocentesis better for more accurate results? Im 31&12 weeks pregnant.

Some and yes: The cf-DNA can detect many genetic anomalies but it is not 100% and when positive is usually confirmed by an amniocentesis for a full karyotype. The amniocentesis is the gold standard for detecting genetic anomalies . Sampling of the placental tissue _ ie: chorionic villus sampling would be comparable to an amniocentesis and can be performed earlier in the pregnancy. ...Read more

Dr. Richard Roberts
57 doctors shared insights

Prenatal Testing (Definition)

Prenatal testing refers to any tests done during a pregnancy to diagnose a ...Read more