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Month: October 2013

Home 2013 October

What Is The Best Testing For Down’s Syndrome And Other Chromosomal Problems In Pregnancy?

October 28, 2013Obstetricsadmin

Early in your pregnancy we will ask you to decide which, if any, testing you wish to perform to check for chromosomal problems such as Down’s syndrome. There are several choices available and hopefully this will provide some insight into which is best for you.

A normal fetus will have two sets of 23 chromosomes making a total of 46. Having a missing or extra chromosome creates major developmental problems and usually results in early miscarriage. Chromosomal problems are rarely hereditary, they are usually caused by division errors early in embryonic development and can happen randomly to any couple, although the incidence of division errors increases with increasing maternal age. The chance of a diagnosing a chromosomal problem at age 35 is about 1/200 and at age 40 is about 1/50. Since many chromosomal problems end in miscarriage prior to diagnosis, the true incidence is actually quite a bit higher.

All of our patients are offered screening for Trisomy 21 (Down’s syndrome), Trisomy 18, and Trisomy 13, regardless of their age. In trisomy conditions the fetus has a whole extra chromosome, which has very serious effects. Trisomy 21 is often compatible with life but other trisomies are universally incompatible with life outside the uterus. While a fetus could be trisomic in any chromosome, we focus on these three trisomic conditions (an extra chromosome 21, 18 or 13) since they are the most common ones that survive past the first trimester.

There are several options available for screening for these conditions. The first option is called “Ultrascreen”, which combines nuchal fold measurements (an ultrasound measurement of the fold on the back of the baby’s neck done at 11-14 weeks) with a blood test to assess risk for chromosomal problems. A large nuchal fold can be associated with chromosomal problems and some heart defects. The associated blood test can be done from 9-14 weeks and measures several proteins, which may be altered in cases of chromosomal abnormalities.

Ultrascreen picks up 91% of Down’s Syndrome and 95% of trisomy 13 and 18. The down side is that there is a high false positive rate, since the test is read as “abnormal” when the calculated risk of a chromosomal problem is greater than 1/270. So frequently we counsel patients that the test was “abnormal” even though the great majority of so called “abnormal” tests turn out to be normal after definitive testing is done. This is obviously quite stressful for the patient. When the Ultrascreen is abnormal we offer the patients an amniocentesis, which extracts a small amount of amniotic fluid from around the baby with a small needle. Fetal cells can be isolated from this fluid and directly tested, making amniocentesis 100% accurate.

A second screening test is called “Harmony”. Harmony is a blood test best done at 11+ weeks, which analyzes fetal DNA in maternal blood and provides a risk assessment for Trisomy 21, 18, and 13. Gender analysis can be added for an additional fee since the presence of the Y chromosome (indicating a boy) can be detected. This is 99% accurate. If the Harmony is abnormal an amniocentesis will be offered to give 100% accuracy.

For patients who choose Harmony we recommend doing the nuchal fold ultrasound measurement in addition to the Harmony test, as the nuchal fold can detect problems that are not part of the Harmony test (such as Turner’s syndrome and certain heart defects).

Thirdly, many patients choose to do neither option, which is very reasonable as we cannot intervene to change the situation when a baby has a chromosomal problem (other than termination), so some argue that there is no point in checking. We certainly respect that decision and present it as an option to all of our patients.

One of the key issues when choosing a test surrounds insurance coverage. Ultrascreen is less accurate but has been around longer so is better understood by insurance carriers. We have found that all major carriers cover Ultrascreen when mom is over 35, and most carriers cover it even for patients under 35. Harmony is more accurate but is also a newer test and is still considered “experimental” by some carriers, so is generally not covered for patients under 35. Since this test is done by an outside lab (not our office) we cannot guarantee coverage and we let all our patients know that the full cost of Harmony is $795 or $815 with the gender test, and to be prepared to pay that amount in case it is not covered. We recommend discussing this with your individual plan before you make a decision.

Our providers and insurance specialists are here to help you work through these options and decide what is right for your family.

Did you learn something from this post? If so let us know! What topics would you like to see discussed in future posts? Please send feedback regarding this post to shs@cwcchouston.com.

Should I Worry About My Abnormal Pap Smear?

October 17, 2013Gynecologyadmin

One of the most stressful conversations for our patients surrounds abnormal pap smears. Hopefully this information will help to reduce stress and provide helpful information. Starting with basics, a pap smear is a screening test for cervical cancer and generally can pick up changes in the cervix way before cervical cancer even develops. For these reasons cervical cancer is exceedingly rare in patients being followed at CWCC. In fact since 2002 when we began, CWCC has never had a case of invasive cervical cancer in a patient that we are following. We certainly frequently pick up pre-cancerous changes, which may or may not ever become cancer without treatment, and treat them. Keeping it in perspective, pre-cancerous changes can’t hurt you, and the whole point of pap smears is to prevent cancer by picking up these changes early.

When we have a pap smear, we check for two things. One is the appearance of the cells which are retrieved with the cervical swab, to see if they have any precancerous appearance. These changes, if present, are called “dysplasia” and are graded mild, moderate or severe. We also check for the presence of certain strains of the HPV (human papilloma virus) since HPV has been found to be the causative agent for cervical cancer. Patients who are negative for these HPV strains have an exceedingly low risk of cervical cancer and do not require frequent evaluation. Patients with dysplasia invariably carry the HPV virus (since HPV is what causes dysplasia). The pap tests for certain strains of HPV that can be associated with cervical cancer. It does not test for all strains of HPV. For example if a patient has genital warts which are caused by HPV types 6 and 11, they will test “HPV negative” on a pap smear since types 6 and 11 are not in the pap smear panel, because they don’t cause cervical cancer. The types of HPV tested for with a pap smear have unfortunately been named “high risk HPV”. Naturally when a patient is told that she has “high risk HPV” it sounds scary. Really they should be called “some risk HPV”. If we carry one of these strains we have some risk of developing cervical cancer if not treated, compared to essentially zero risk if we don’t carry one of those strains. Only a very small fraction of patients who carry a “high risk HPV” go on to develop cervical cancer, and those few were generally not being followed closely by a doctor.

When we diagnose dysplasia on a pap, the next step will be to do a procedure called colposcopy. A colposcope is a magnifying lens on a stand that allows us to look at the cervix with magnification and see areas of dysplasia that are not visible to the naked eye. If we see abnormal areas we take a small biopsy to confirm that the pap smear was correct. Sometimes what appears on the surface (sampled by the pap smear) is different under the surface, and the biopsy is the gold standard to decide if treatment is needed. In most cases the biopsy matches the pap smear, but not always. During the colposcopy we can also collect a sample from the cervical canal which is not visible, to make sure that there are no precancerous changes hiding up out of view. The results of the colposcopic biopsies are described as normal, or level 1, 2 or 3 precancerous changes. In general we will treat level 2 or 3 changes and often will offer observation to patients with level 1 changes. The reason not to treat immediately is that the HPV virus can go away, and in most cases our immune system clears it over time. So if a patient has mild (level 1) changes we don’t have to treat it right away, and it is safe to observe and repeat the pap every 4-6 months for a year or two to see if it resolves on its own.

If treatment is recommended there are two main types of treatment that may be offered. The first is called cryotherapy and uses liquid nitrogen to freeze the outer layer of the cervix and destroy the abnormal cells. This would be appropriate for level 1-2 changes which do not involve the cervical canal (since the freezing is only on the outside of the cervix and can’t treat the canal). The upside is that this is a quick (less than 10 minutes) procedure done in the office without anesthesia and has a high success rate. The downside is that is causes an unpleasant discharge for 2-3 weeks and we do not have a specimen to confirm that we destroyed all the bad cells. The second choice is a LEEP (loop electrocautery excision procedure), which is done in an outpatient surgery center under anesthesia and actually cuts a circular portion of the cervix off, encompassing all the visibly abnormal areas, and the specimen is then sent to the pathologist to confirm that we have clear margins. This would be appropriate for a patient with a higher grade problem or with abnormal cells in the cervical canal. The downside of a LEEP is that is can potentially be damaging to the cervix and is associated with higher pre-term delivery rates.

It is extremely unlikely that you will develop cervical cancer if you follow your doctor’s recommendations for follow-up, and we encourage you not to worry if you have been diagnosed with an abnormal pap. Just remember that precancerous cells can’t hurt you, and diagnosing them at this stage is a blessing.

Did you learn something from this post? If so let us know! What topics would you like to see discussed in future posts? Please send feedback regarding this post to shs@cwcchouston.com.

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