Doctor insights on:
Patau Syndrome Prenatal Testing
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
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 moreSee 1 more doctor 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. ...Read more
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor 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. ...Read more
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 moreSee 1 more doctor answer
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
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
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
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
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
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
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 moreSee 1 more doctor answer
Would a basic karotype for genetic testing detect or give a clue if someone has Muscular Dystrophy? What about prenatal testing?
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