Re: Anomaly scan, Serum testing, Down Syndrome and Lateral
From: James Smeltzer (James.Smeltzer@wellstar.org)
Tue Jul 22 06:01:54 2008
Thanks! How about the nose bone and head shape & femur?
Jim
>>> art fougner, md <evsono@pipeline.com> 7/12/2008 10:33 AM >>>
I recently saw a case in which the NT was not increased for crl but
obvious tricuspid regurgitation was present. Fetal demise occurred two
weeks later. Subsequent tissue karyotyping revealed Trisomy 21.
Art
At Thu, 10 Jul 2008, James Smeltzer wrote:
>
>Hi!
>
>All the cells of the CNS are lining cells of the wall of the tube that started there, migrated out to their final position and did what they were supposed to do, based on where they came from and other factors.
>
>>From a CNS perspective we are all totally tubular!
>
>It only stands to reason that the starting mass of cells outside the tube is small, and grows as more join them.
>
>This is the way of the tube.
>
>Allen, 10-15mm seems a bit generous for the LV tube diameter at the atrium at 13 weeks, since as the BPD is only 20mm and has to include one side of the skull and the entire brain, and the two LVs are at a slightly higher - and narrower - level of the brain (but still have SOME brain substance at 13 weeks.
>
>A nuchal translucency of 2.6mm at 13 weeks (~CRL 67) is sufficient to discuss/offer an amnio or CVS and fetal echo, or serum testing, tqargeted sonogram (our preferred route), as the odds ratio for Down Synd is about .75/.05. or about 15 fold the baseline age and other screening risk (Snijders & al, Lancet 1998; 351:343-6). Yagel & al Ult. (Obstet. Gynecol 11:262, 1998) come up with more conservative numbers, and if your normal data fit their curve, you are right not to routinely offer an amnio to a womal under 31, as their predicted nuchal lucency is 2.6 mm. (Odds ratio of ~2 - not sure of their Down results).
>
>I am not recommending everyone rely as heavily on dysmorphology as we do, as there is a learning curve, amnio is 100% (99.4%) reliable and we do a ridiculously low number of amnios - with a ridiculously high positive rate. But looking never killed a baby.
>
>I would definitely look for tricuspid regurgitation, brachycephaly - which can be seen early - short femur, and humerus, and an absent nose bone, at least. Of course an AV septal defect alone would be sufficient to warrant an amniocentesis. Personally, in our hands, serum markers have helped to identify Down syndrome only once in the absence of a suggestive sonogram, but have - with quad screen - gotten to an acceptably low false positive rate, low enough to raise the odds, and significantly increase the detection of Down syndrome in the absence of early careful sonography.
>
>Know your results and your normal curve for NL as these are essential for interpretation of results. (I still do not understand how we get such different normals. Maybe we should all take the same course;^)
>
>Hope this helps! Jim Smeltzer
>
>--
>James S. Smeltzer, MD, FACOG, SMFM
>Consultant, Maternal Fetal Medicine
>Wellstar Physicians' Group
>Northwest Women's Care
>787 Campbell Hill St
>Marietta GA 30060
>James.Smeltzer@wellstar.org
>VM 678-290-3035
>Off 770-528-0260
>Page 404-318-3451
>
>>>> Terry DuBose <terrydubose@sbcglobal.net> 7/5/2008 2:14 PM >>>
>I think Allen is correct, the ventricles often appear large early on, but as the head grows up around them, they tend to look more normal... need measurements later. Terry
>
>jworrall@alaska.net wrote: At 13 weeks a transvaginal scan will often (but not always) permit a very
>good view of the fetal head. I am not sure what "mild" ventriculomegaly is,
>but probably the atrium of the lateral cerebral ventricle measures between
>10 and 15 mm. If a good view of the fetal head can be obtained, you would be
>able to evaluate the posterior cerebral fossa, and look at the posterior end
>of the occipital horn (is it rounded or pointed?) the cisterna magna, and
>the cerebellum. Remember that this early in pregnancy the cerebellar vermis
>is not completely formed, so as you scan the posterior cerebral fossa
>inferiorly, you may mistakenly think you have a Dandy Walker situation. I
>am not sure you would see the cavum septi pellucidi that early.
>
>Hopefully, in addition to the nuchal translucency, the patient has been able
>to obtain the blood test part of that genetic screen, the PAPP-A and beta
>hcg, so that you will get a proper evaluation of her risk of having a baby
>with Trisomy 21. I do NOT think mild ventriculomegaly and a nuchal
>translucency of 2.6 mm would be an indication for amniocentesis or chorionic
>villus sampling but I guess that depends on where you practice and what the
>custom is in your location. As always, I hope Anita and Prathima will
>comment.
>
>Allen
>
>--------------------------------------------------
>From: "cjayankar" Sent: Saturday, July 05, 2008 3:16 AMTo: "Multiple recipients of list ULTRASOUND"
>--------------------------------------------------
>--------------------------------------------------
>--------------------------------------------------
>Subject: anomaly scan
>--------------------------------------------------
>
>--------------------------------------------------
>> hello
>--------------------------------------------------
>>
>> I have a 33yr old gravida2,with 13 weeks pregnancy,sacn done today
>> shows mild ventriculomegaly and NT 2.6mm.Her first child is 7yrs old and
>> autistic.No significant family or past history.
>>
>> Planning for anomaly sceening,can the mild ventriculomegaly be taken
>> as very significant.
>>
>> Thank You
>> jayankar
>>
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--
art fougner, md
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