I love the sliding baby and the smoking father. The X-ray tech is unfortunately dead now since he wore no protective shield for the high tech $25,000 machine . And who wouldn’t want the pneumatic tubes for sending records?
This hospital was $2 million. The cost of building a hospital in 2009 is $2.5 million per bed. And that doesn’t include electronic medical records. Bring back the pneumatic tube.
I am 29 years old and am 21 weeks along. I just had an ultrasound a couple of days ago and was told that the nasal bone is not showing up which puts me at higher risk for a baby with Down Syndrome. I have yet to have someone tell me how much of an increased risk. I did not have the 1st trimester screenings as I’ve always said that it wouldn’t make any difference but now that it’s staring me in the face I am seriously considering an amniocentesis. I just wonder if I can go through the next 19 weeks wondering. Can you tell me what my risk is for a Down Syndrome baby? Thank you.
Previously we published a post that discussed the role of assessment of the fetal nasal bone in first trimester screening for fetal chromosomal abnormalities and, in particular, screening for Down syndrome (trisomy 21). Confirmed absence of the fetal nasal bone in first trimester has been correlated with a detection rate for Down syndrome in the range of 70% (with false positive rates dependent on maternal ethnicity – 2.2% in causcasians; 5% in Asians; and 9% in Afro-Carribeans) (Cicero, et al. Ultrasound Obstet Gynecol. 2003;21:15–18; Prefumo, et al., BJOG 2004; 111:109–112). Although determining the presence or absence of the nasal bone can clearly contribute to the risk assessment in first trimester, unfortunately, the technical difficulty of reliably obtaining an image and accurately interpreting the findings have led to more restricted use here in the U.S., even at many major academic centers.
In contrast, in midtrimester genetic screening, often done at 18-20 weeks, the finding of an absent nasal bone and to a lesser degree a hypoplastic nasal bone, is becoming more widely recognized as a major ‘marker’ for trisomy 21. In midtrimester, complete absence of the fetal nasal bone occurs in about one-third of Down syndrome babies. If a ‘short’ nasal bone (nasal bone hypoplasia), is included in the evaluation, 60% or more fetuses with Down syndrome may be detected, again with false-positive rates depending on ethnicity and the variable cut-off values for defining a “short nasal bone” in different studies (Bromley; et al., J Ultrasound Med 2002; 21:1387–1394; Bunduki; et al., Ultrasound Obstet Gynecol 2003; 21:156–160; Lee, et al., J Ultrasound Med 2003; 22:55–60; Gamez, et al., Ultrasound Obstet Gynecol 2004; 23:152–153).
One small study using 3D ultrasound found an absent nasal bone in 9 of 26 babies with Down syndrome (34.6%) and only 1 of 27 (3.4%) chromosomally normal babies, but this also meant that 9 of the 10 (90%) babies in whom complete absence of the nasal bone was found had Down syndrome (Goncalves, et al., J Ultrasound Med 2004;23:1619-27). In a recent study of 4373 babies evaluated in midtrimester, complete absence of the nasal bone was found in about 30% of Down syndrome and only 1% of chromosomally normal fetuses . (Odibo; et al., Am J Obstet Gynecol 2008;199:281.e1-281.e5). Nasal bone hypoplasia, defined in this study as <0.75 MoM, identified 47% of Down syndrome pregnancies and occurred in 6% of normal pregnancies.
So, to our reader, I cannot give a precise estimate of increased risk based on the ultrasound findings you report. However, if the ultrasound was performed by an experienced examiner and adequate images were obtained for evaluation, the complete absence of a fetal nasal bone at 21 weeks, even as an isolated finding, is disconcerting. The risk for Down syndrome could be as high as 90% and the false positive rate 5% or less. And, if you really need to know whether or not your baby is affected, an amniocentesis would be the best way to get that information. Best wishes and please let us know what you find out.
Probably one of the most popular series I have written over the past few years is the one on recurrent early pregnancy loss. There is not a week that goes by that I still don’t get inquiries related to that subject, most accompanied by the pain, frustration, sense of loss, and feelings of hopelessness for future fertility. There are several points I always remind readers and patients about whenever I have the opportunity to discuss their concerns: 1) In most cases, the tincture of time alone offers the answer to their prayers; 2) If specific reasons for their losses are found or suspected, these can often be addressed medically and/or surgically; 3) If specific reasons cannot be identified, there are reasonable approaches to ‘empiric therapy’; and, 4) If these approaches fail, the science of assisted reproductive technology (ART) has advanced to the point that it can often overcome most obstacles that stand in the way of fertility.
The other points I always mention in response to the questions of “Why did this happen to me?”, “What did I do wrong to cause this?”, “What can I do to assure that it never happens to me again?, particularly to couples who have had their first or second miscarriage, or a sporadic miscarriage after successful pregnancies, are the following: 1) Miscarriages occur in 15-20% of all conceptions; 2) The MOST COMMON cause of early pregnancy losses are chromosomal abnormalities that occur by chance (except in the case of parental chromosomal rearrangements) and are not under any controllable influences; 3) It is unlikely that anything was “done” to cause the loss, although if there are such potential factors identified, the loss may provide an incentive to modify lifestyle prior to another pregnancy attempt to minimize their risks.
Recently, I received the query below from a woman who has had early pregnancy losses related to documented chromosomal abnormalities. Despite the other problems that have been identified which might contribute to reduced fertility in her case, these probably had no influence on her babies’ chromosomal abnormalities. But, they do give us the opportunity to briefly discuss the well-known observations that certain seemingly “unusual” chromosomal abnormalities (“unusual” in that they rarely or never result in a live born baby) actually contribute to a relatively high percentage of early pregnancy losses. Read more »
“We already have two girls at home and we want a son. We have too many girls.” My eyes welled with tears as I thought of the fate of this poor, helpless baby who had no voice, no rights, and who was about to be “attacked just because she was female.”
I pulled the ultrasound image from the chart and my heart quickened. The image was of the perfect outline of the precious little baby girl sucking her thumb. The timing of the ultrasound image was perfect.
I proudly showed them the image, and the look and emotion on their faces changed.
“That is our baby?” they inquired. “We didn’t think it had that much form, and she is sucking her thumb already?”
I started my mission while we were on vacation in Barcelona, because between the time change and our eating schedule and the fact that sleep was a hot commodity, it was a good time to let go of the caffeine addiction. No real withdrawal, no extreme headaches, and no unrighteously sassy moments where I can’t function “WITHOUT MY CUP OF COFFEE DAMNIT!”
But now, I have a new pal. Someone who can still be part of the collection of stupid iPhotos that the editorial team snaps every few days. (These photos are known as the Friday Face-Off, where we take one photo to emulate, like this one (my version) or this one, and we all recreate it ourselves, then paste them together as a college. My favorite so far was when we all tried to look like my chubby-cheeked niece. But I’ve once again digressed. Ignore me.)
My new pal is decaf, and I have embraced the change. The coffee shop downstairs makes a mean iced decaf coffee, and just a short walk away from my office is a fabulous graham cracker flavored coffee that comes in delicious decaf. I am finally weaned off the caffeine, but I still get to enjoy the taste and the “coffee runs” that are part of the social routine in my office.
It’s nice to feel free.
It’s also nice to not drink so much coffee that my fingertips actually jitter to the point where I can’t type a sentence without mangling most of the words.
FutureBaby, I hope you appreciate this. Because it was HAAARD. But I know it was worth it.
*This blog post was originally published at Six Until Me.*
It’s no secret that doctors are disappointed with the way that the U.S. healthcare system is evolving. Most feel helpless about improving their work conditions or solving technical problems in patient care. Fortunately one young medical student was undeterred by the mountain of disappointment carried by his senior clinician mentors…
I am proud to be a part of the American Resident Project an initiative that promotes the writing of medical students residents and new physicians as they explore ideas for transforming American health care delivery. I recently had the opportunity to interview three of the writing fellows about how to…
I m often asked to do book reviews on my blog and I rarely agree to them. This is because it takes me a long time to read a book and then if I don t enjoy it I figure the author would rather me remain silent than publish my…
When I was in medical school I read Samuel Shem s House Of God as a right of passage. At the time I found it to be a cynical yet eerily accurate portrayal of the underbelly of academic medicine. I gained comfort from its gallows humor and it made me…
I am hesitant to review diet books because they are so often a tangled mess of fact and fiction. Teasing out their truth from falsehood is about as exhausting as delousing a long-haired elementary school student. However after being approached by the authors’ PR agency with the promise of a…
