Re: mid-term femur length trisomy risk query
From: art fougner, md (evsono@pipeline.com)
Thu Nov 17 08:21:29 2005
Jim
If you look at the outside of a fancy building, it really doesn't tell
you what grade of concrete went into the foundation.
Art
At Thu, 17 Nov 2005, James Smeltzer wrote:
>
>Hi!
>
>Bernacerraf's group has studied this extensively. The use of isolated
>single measures to positively predict Down's Syndrome sonographically is
>not reliable, except the positive predictive value of atrioventricular
>septal defect (Downs vs field 2:1), duodenal atresia or web (1:2). The
>physiognomy, body type, arms, legs, hands, feet of a fetus should always
>be referenced to parents if possible, but very short is high risk, even
>with short parents IMHO.
>
>The problem is that a 40 y/o woman has a prior risk of 1/50, change to
>about 1/200 by nuchal lucency.
>
>Please check and comment on:
>nose bone (missing or small very common, upturned common),
>head shape (brachycephalic very common),
>ear length (short, low, simple very common),
>facial appearance especially mid-face projection (flat extremely
>common) and
>overall shape (round very common),
>current nuchal thickness (thickened common),
>humerus length (short very common),
>digits hand: (simian crease reported, but I have never seen it)
>(phalanges graduated stacked box appearance very common), especially 5th
>finger (clinodactyly with small and wedged MP of 5 is very common) and
>1st toe (wide space very common), (short, wide feet very common),
>four-chamber heart, especially atrial dimensions of right vs left
>(right predominance in 85% by DeVore very common) and crux (straight
>across or missing in AV canal 5% but highly predictive), other heart
>defects effusions or hydrops (common - 50%, but less prenatally),
>umbilical artery (single uncommon but predictive),
>stomach appearance (double bubbles uncommon but predictive: one-third
>have DS),
>kidney appearance (renal pelvis dilation, mild common),
>bowel appearance (bright occasional but predictive),
>pelvis width (wide max outer to outer ilial diameter vs femur length
>common) and angle (>45 degrees, not reproducible by some common).
>
>We are starting on the wrong end of this equation, IMHO. People not
>only come in all shapes and sizes, they also have all kinds of
>dispositions.
>Do they wish prenatal diagnosis? If not, you are done unless there is
>a gross heart or other defect or hydrops.
>Is targeted imaging and expert counselling available? If so, they need
>it.
>Do they wish certainty regarding chromosomes? Is she losing sleep over
>this? Would she have an abortion? If so, needs amniocentesis.
>
>I will never forget the 35 year-old woman I cared for years ago in St.
>Louis. Missouri medicaid would not pay for prenatal genetic diagnosis.
>My chief, the late honorable Klaus Staisch, believed that providing this
>service was standard of care even in an indigent care hospital. The
>hospital ate the $700 a pop that Jim Crane charged us for the
>chromosomal evaluations - no discounts. You better believe we provided
>structured counselling. This woman desired amnio despite a negative
>sonogram. The results returned trisomy 21. I rescanned her with the
>results in hand, and the sonogram was normal. She carried the
>pregnancy. When the baby was born, I asked Corinne Valentik, our
>neonatologist, if the baby had a heart defect I had missed. SHe asked
>"What baby?" I said the one with Down's. She said that there was no
>baby in the nursery with Down's. I pointed the baby out to her and she
>said the baby did not have Down Syndrome: there was no sign of Down
>Syndrome. I said I had known that for five months, but it did not
>change the chromosomes. She was so skeptical she repeated them in a
>different lab. The results were the same, Trisomy 21.
>
>That baby taught me that dysmorphology only goes so far. The number
>and appearance of chromosomes is a fact. When you are only interested
>in that fact, the chromosomes are the things you should look at. When
>we can consistently and accurately harvest fetal cells at reasonable
>cost from maternal blood I will be out of that business. Until then, I
>enjoy the prenatal diagnosis and am happy that so far this is the only
>miss so far, and that my positive amnio rate for chromosomal
>abnormalities is between 20 and 35 percent. But I will never have a
>problem doing an amnio when the patient wants this certainty.
>
>"When all you have is a hammer, everything looks like a nail" ...
>(anonymous)
>;^)
>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
>
>>>> fizztastic@talk21.com 11/15/2005 2:33:46 PM >>>
>
>The patient is 40 years old; her partner is 50. This is their first
>pregnancy. They are very concerned about age-related risk of
>chromosomal abnormalities, but opted against CVS and then amnio when
>1st
>trimester screening adjusted their background trisomy 21 risk to 1:272
>and trisomy 13/18 risk to 1:843.
>
>The mother is above average height (183 cm) and the father is below
>average height (168 cm). Both are Causasian. My question is this: at
>21 weeks + 3 (dated by known LMP), the femur length of the fetus is
>33.5
>mm. (Other measurements taken at the same time include BPD 53 mm; HC
>182 mm; TCD 21 mm; CM 5 mm and AC 161 mm.) Is this low enough to
>warrant
>concern? Urgently seeking advice. Any comments would be gratefully
>received. Thanks very much.
>
>Mary
>
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--
art fougner, md
"I knew I was going to take the wrong train, so I left early."
Lawrence Peter Berra
