Posted on 05/11/2006 8:04:58 AM PDT by Theophilus
Edited on 05/11/2006 8:11:58 AM PDT by Admin Moderator. [history]
I have just reached the 30th anniversary of the first obstetrical sonogram I performed. Even having witnessed each of the technological advancements in sonography over those three decades, it is still difficult to comprehend the enormous improvements in image quality that have occurred. These improvements have brought sonography from a “promising” diagnostic tool to a mainstay of modern imaging. However, nowhere in medicine has this technique had a more profound impact than in the field of obstetrics. Thirty years ago there was essentially no such thing as obstetrical imaging and prenatal diagnosis was in its infancy.
During this time obstetrical sonography went from a medical oddity to a test of such great value that several European countries perform at least two obstetrical sonograms in every pregnant woman and 70% of modern American mothers have had a sonogram during their pregnancy (1,2). Obstetrical sonograms provide a wealth of useful information to the primary care giver. Some of these benefits are easily measured: accuracy of estimating menstrual age, accuracy of predicting twins, etc. Others are more difficult to measure but we all agree are nonetheless of great benefit. One of the most important of these is providing “reassurance” to the expectant mother. In our Obstetrical Department the phrase “for size and dates and general reassurance” seems to be pasted on nearly all sonogram request forms. Personally, the opportunity to say, “everything looks fine” to an expectant mother was one of the perks of my job. I can see the wave of relief wash across her face. It’s always a touching moment followed by “thank you, Doctor”.
Today, I no longer feel that way. There are a growing number of patients where I dread having to speak to her. I have reviewed the sonographer’s scans and they disclose a finding that will send the mother into a tailspin of confusion and worry. I’m not talking about holoprosencephaly or bilateral renal agenesis. I have a great deal of experience discussing such devastating diagnoses with pregnant women. And while the news is sad, I always feel that I am providing the family with a great service. Nothing can change the fact that her fetus has a mortal anomaly. There will necessarily be a grieving period and tears will undoubtedly flow, but beginning that grieving period at the earliest possible date in her pregnancy is “good medicine”.
Tomorrow when I return to work the odds are I will have to speak to a mother-to-be about an “abnormality” that I see on her sonogram and I won’t know what to tell her. I am talking about “abnormal” findings on her sonogram which loosely fit under the general heading of “Down syndrome markers” (some are actually better as markers of other trisomy syndromes). I am not referring to atrio-ventricular canal or duodenal atresia. These are strong indicators that the Down syndrome may be present. But Down syndrome or not, the fetus still has a serious anomaly and the detection of that anomaly is a benefit. What I am afraid to encounter tomorrow is an “abnormality” which is not really abnormal: choroid plexus cysts (3-31), echogenic intracardiac foci (32-36), mild pyelectasis (37-41), and echogenic bowel (42-45) . If her fetus has one of these “abnormalities” but doesn’t have the Down syndrome, then her fetus is normal. Excuse me, I’m certain I will be criticized if I don’t tell the mother-to-be that in the absence of the Down syndrome and the presence of echogenic bowel she must worry about her fetus having cystic fibrosis, developing intrauterine growth restriction, having a premature birth, a fetus with a cytomegalovirus infection, or a fetus who may die in her womb (46-49). Alternatively, if her fetus has mild pyelectasis and a normal karyotype her newborn child is at risk for urinary tract problems, must take antibiotics after birth, get an extensive and uncomfortable work-up for vesico-ureteral reflux and must be followed-up for many months to ensure normalcy (50).
The sheer numbers of papers written on the subject only add credibility to their importance (3-49). Certainly, some authors disagree as to the importance of one or the other of these findings (51,52). Unfortunately, the physician performing a routine sonogram and finding one of these “markers” is hard pressed to make a determination regarding which expert to believe. Inevitably they choose the “safest” path; at least, “safest” from a medico-legal perspective. The mother is simply going to have to deal with the possibility that her fetus may have the Down syndrome or worse.
These Down syndrome markers are common findings in normal fetuses, particularly the echogenic intracardiac focus (EIF). EIF occurs in approximately 5% (it is probably closer to 10%) of fetuses (53). The choroid plexus cyst occurs in 1-2% of fetuses (3), echogenic bowel occurs in approximately 1% of all second-trimester fetuses (44) (many more if high frequency transducers are employed) and mild pyelectasis in 3% of normal fetuses (54). If you have a busy sonographic practice seeing 10-20 pregnant woman daily, you will most likely see one or the other of these “abnormalities” every day.
The researchers that originally described these findings did so in women at high risk to have a fetus with the Down syndrome (55-65). These were pregnant women older than 35 years or who had a positive “triple marker” screening test for the Down syndrome. In this group of women the application of these findings increases the probability of finding Down syndrome fetuses and they perform admirably in this regard. However, these women have already been counseled that amniocentesis is appropriate in their case. They are having a sonogram in order to downgrade their risk to a level where they may appropriately forego amniocentesis (66-76). When examining a mother-to-be in this circumstance I fully recognize the value of identifying these “abnormalities” and can counsel these women appropriately that their already substantial risk is further increased if I find one or more of these features. More importantly to her, if no markers for the Down syndrome are found her level of risk may be significantly reduced (67, 72, 73).
But then investigators (with the best of intentions, I am certain) appear to have taken a misstep. These findings when seen in a woman with a low risk of having a Down syndrome fetus were used to upgrade her risk (40, 77). The consumers of this information, the physicians in the trenches, read these scientific papers and then identify these “abnormalities” during a routine sonogram. What are they to tell the patient? This woman hasn’t already been counseled. She is having a sonogram for “reassurance” (forget that now). Her husband, children and parents are with her. There is a party atmosphere. The videotape is rolling. Soon the giggling and finger pointing at the screen will cease. The questions will change abruptly from “is that the heartbeat?” or “is that the penis there?” to “are you saying that my child is going to be mentally retarded?”
Without doubt you have now added cost to the management of that pregnancy. The patient may choose to undergo amniocentesis. She may be referred to a prenatal diagnostic center for a detailed fetal sonogram and genetic counseling. The innumerable hours of counseling by primary care givers and general sonologists to explain the “meaning” of this finding are not counted in these additional costs (78). Nor are the heartaches of the parents-to-be counted in this cost analysis. If they forego the amniocentesis (clearly the correct choice, in my opinion) then they must live with residual doubt for the remainder of the pregnancy. Does my fetus have the Down syndrome? Maybe I should have had the amniocentesis. The enjoyment of the anticipation of the birth of their son or daughter is now replaced with anxiety.
Well you say, look at all the good these findings have accomplished. Some bad must go along with all that good. Possibly I am the exception (I doubt it), but I don’t see “all the good”. I am a simple-minded physician. I like it when a sonographic finding passes the “Thank God Test”. The Thank God Test is passed when I say to myself “thank God” for that finding. If I hadn’t seen it I would have completely missed this devastating abnormality. I have no instance in my recollection where one or the other of these abnormalities was the sole reason I was able to recognize a fetus with the Down syndrome in a low risk patient. (This presumes, of course, that a reasonably careful sonogram following the AIUM guidelines has been performed.) Obviously someone has had such an experience: just not me. From my vantage point the identification of these “abnormalities” in low risk women has crossed the line of “more harm than good”.
What are we trying to accomplish with the sonographic observation of “Down syndrome markers” in low risk women? Twenty percent of Down syndrome fetuses are born to mothers 35 years or older. We have known for many years that we must be suspicious in this group. Maternal serum screening programs for the so-called “triple markers” in women <35 years of age has become an effective screening test, with a sensitivity of 57% (79). Of the residual fetuses with the Down syndrome, sonographically apparent major anomalies are present in 25% - 33%. Further, of the residual fetuses with the Down syndrome a moderate number will simply die in utero. At birth, the incidence of trisomy 21 is 33% lower than it is at 15 - 20 weeks (80). Think about it! For the tiny residual number of Down syndrome fetuses that may potentially come to light by chasing down every last “marker” we intend to put at least 10% of all pregnant women with perfectly normal fetuses through a great deal of worry.
So then, what should I do tomorrow? Should I have the courage of my convictions and simply ignore these features? I wish I had that courage, but I don’t. Even with my considerable “clout” in the world of obstetrical sonography, I cannot unilaterally ignore the sonographic medical literature. That is not how American medicine works.
I am confident that I am not alone in my concerns regarding this issue. I further believe that the authors who did this excellent research in the “high risk” population are becoming aware that these features are not proving as beneficial in the “low risk” population as they had hoped. It is time for the American Institute of Ultrasound in Medicine or the American College of Obstetrics and Gynecology to convene a panel of experts to analyze the data on this issue and publish a position paper on the practicality of employing Down syndrome “markers” in low risk women at the soonest possible date.
I was offered that test during each one of my three pregnancies. The description I was given indicated that the test results are wrong half the time, anyway. So, I refused it every time. Even if parents just want to be well-prepared for their baby's possible health problems, those test results could be inaccurate 50% of the time.
Good for you and your wife for fighting that doctor!
Suzi - I post this question...if husband and wife have differing views, whose views are respected?
You know, I'm wondering if this is just one of those 'run it up the flagpole' articles starting to make people dismiss ultrasound because the pregnancy alternative folks are using them now to encourage women NOT to abort their babies. Muddy the waters to discredit the pro-life folks. Maybe not, but my hackles got raised reading the article. Sounded like he was just 'protesting too much'.
What a beautiful little boy! God Bless you and your family!
We've had the same diognosis 1 month ago. We went last week for an echo cardiogram and the baby looks fine, due date Aug. 24. All prayers are welcome for our little one, but we feel pretty confident that this is nothing. Again, all prayers are welcome.
The parents need to be adults and do what is best to protect the BABY! I NEVER had an amnio with any of our four because I knew how invasive they are and the risks involved. If I never intended to abort the baby, it really doesn't matter, does it?
This came up mostly with our 4th child because I was 37. I asked the doctor if having advance knowledge of the presence of spina bifida would help him in any way, and he said that if he knew it were present, he'd take special precautions during delivery, so he checked the ultrasound and didn't see any problems. If the ultrasound hadn't been conclusive, I likely would have done the AFP test only to give the doctor some heads up for delivery, because it is a simple blood test, and not harmful to the baby in any way.
Ouch! I can assure you that this is not that case!!! I really am the father of 9 kids, 7 alive (6 VBAC's), well and breathing, 1 in heaven (miscarriage) and 1 alive, well (I believe) and on the way.
Ultrasound can be a valuable psycological inducment to persuade someone to not get an abortion. I'm 100% for it then. But how often does it persuade women to get an abortion? What good does a test do for a condition with no theraputic solution?
I wholheartedly consented to the 1st ultrasound this time, it was fun. Now 5 weeks later, we have this to contend with.
You didn't answer my questions. There are times husbands and wives will have different viewpoints..WHOSE views should be repected?
That said, I will pray for you and your wife to have a healthy baby.
Philippians 2:3 Let nothing be done through strife or vainglory; but in lowliness of mind let each esteem other better than themselves.
Hi, congrats on your baby, and I'm sorry not to know anything about that which they spotted. But I did want to say that I could NOT disagree with this doctor more.
I think that the Level II ultrasound is of utmost importance for every pregnant woman. Best done in an office or hospital where the tech and doctors do thousands, it is a very important tool to help determine many things about the baby. Pregnant women worry. Sometimes over nothing. That has nothing to do with whether or not it is good to know certain things. There are some treatments that can start already in utero, and there is a lot of planning for things to occur right after birth.
For example, if the placenta is lying wrong, it is essential to make sure the mother has no pelvic activity (sex) and probably no lifting or vacuuming the rest of her pregnancy. Also, if there is a correctable yet life-threatening defect, the baby may have prenatal surgery, or, more likely, be taken by C-section at the right time and taken immediately into surgery, where the right neonatal specialists are prepared and waiting to correct the problem. If one didn't know about these, the baby born naturally might just pass away during or after birth.
If families find out about a serious problem, Down's or other, at the ultrasound, well, they have time to mourn or grieve and prepare before the child is born. Even a child with life incompatibility will need a minute or hour or day of loving contact with his parents before he passes on, and you could use those months to prepare. If a child has Down's, there is so much to learn and prepare for. At birth, the child comes into knowing parents' arms and finds love and acceptance. What more could a little soul want?
I recommend you and your wife go together to the level II and see your precious little baby in there. It will be a moment you will never forget, and information is not the enemy. If the test doesn't tell you whether or not your child has Down's, a quick amnio taken at the same time (nearly painless, takes maybe 2 minutes max) will give you definitive results in a week or so. It's all going to be OK. Support your wife and get the information you need. It could be a huge relief to her, too.
Not sure the point of the Tom/Oprah pic, but for some reason it always makes me giggle!
I Praise God for your beautiful healthy child and I thank God for your wonderful advice!
A handsome little tyke! Good for you!
I refused the amnio because in so many instances they cause miscarriage.
No, they do not. Miscarriage is a VERY rare occurrence from an amnio.
I just can't get a straight answer here...I'm not surrised.
It allows you to prepare, and it allows you to not reinvent the wheel. Others have gone before you, and when you know what road you are traveling down, you can glean what they know. I am thinking of an autism diagnosis in a child. There isn't any "treatment" for the higher functioning. Yet it helps to at least get the diagnosis, even if you don't LIVE that diagnosis (your child Joey is still your child Joey, period, not "the autistic child Joey").
That is the theory. But in YOUR case, there may be something therapeutic. You don't know if there is ANYTHING, but getting that special look at your child might tell you something that you CAN do, now.
Beautiful post. Brought tears to my eyes. Life can be oh so bittersweet. I am so sorry you lost Matthew.
Every baby deserves the love Matthew received prenatally and on his one day down here with us mortals. It's better to know and prepare. I would definitely have wanted to know too.
Disclaimer: Opinions posted on Free Republic are those of the individual posters and do not necessarily represent the opinion of Free Republic or its management. All materials posted herein are protected by copyright law and the exemption for fair use of copyrighted works.