Page 1 of 1: O & G- Fetoscopy has been successfully used for

decembermist · Credits: 41081 My Scrapbook

the prenatal diagnosis of the following except

a) thalassemia
b) epidermolysis [bleep]
c) hemophilia B
d) duchenne muscular dystrophy

Acc to Dutta :

Fetoscopy is done in 16 - 20 wks
Useful for knowing the Fetal external Anatomy & Skin and muscle biopsy

So we are left with options a & c

but the ans given is b)

Am I wrong or is the ans wrongly given

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for blood diseases the diagnosis is made by taking sample from cord blood durig fetoscopy. In fact all these diseases have been successfully diagnosed prenataly by fetoscopy. There may be no changes in morphology in duchenne or epidermolysis in utero.

manpreet108 · Credits: 30682 My Scrapbook

is epidermolysis [bleep] present in fetus??
i mean is the baby born with blisters??

i think its first noticed in infancy.
and if that is so -what wd we see on fetoscopy??
nothing abn related to this condition.

manpreet108 · Credits: 30682 My Scrapbook

oh u mean we can take skin biopsy with fetoscopy and detect it?
but even in biopsy without any ppting event like trauma blisters are not present.and we have to take the biopsy specimes from fresh blisters for EM diagnosis.

prenatal diagonos of EB-is by chorionic villous sampling-what i know for sure.

manpreet108 · Credits: 30682 My Scrapbook

diagosing epidermolysis [bleep]--
Electron microscopy
Obtain a biopsy specimen from a fresh blister. The best way to obtain a fresh blister is to induce it in the office by gently rotating a pencil eraser back and forth over an area of skin until epidermal separation is appreciated. Perform the biopsy at the edge of the blister, sampling both unblistered and blistered skin. Place the specimen into the appropriate holding medium (check with the laboratory beforehand) and immediately send it for transmission EM. EM biopsy holding medium usually contains glutaraldehyde.
EM is the criterion standard for determining the level of blistering. EM can provide additional information on BMZ morphology that can be helpful in making the diagnosis. For example, intermediate filament clumping indicates Dowling-Meara EBS. Rudimentary hemidesmosomes often are found in JEB subtypes. Absent or altered anchoring fibrils often occur in DEB subtypes.

immunofluoroscent microscopy.

Prenatal diagnosis: Once the mutations are identified in a family, reliable prenatal diagnosis is possible. DNA for prenatal diagnosis can be obtained as a chorionic villi sample as early as the ninth week of gestation. Alternatively, amniotic fluid drawn after the eleventh week can provide the necessary DNA. Schedule the procedure in close conjunction with the diagnostic laboratory that will receive the sample

ref-http://www.emedicine.com/derm/topic124.htm

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"Recently, fetoscopy performed at 18 to 20 weeks has achieved prenatal diagnosis for all major EB forms. Chorionic villi sampling and amniocentesis during the first trimester of pregnancy have been successful in diagnosing JEB and RDEB."

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J Invest Dermatol. 1986 Nov;87(5):597-601.
Antenatal diagnosis of recessive dystrophic epidermolysis [bleep]: collagenase expression in cultured fibroblasts as a biochemical marker.
Bauer EA, Ludman MD, Goldberg JD, Berkowitz RL, Holbrook KA.
We performed fetoscopy and skin biopsy on a 19-week fetus at risk for recessive dystrophic epidermolysis [bleep] (RDEB). Ultrastructural analysis of the tissue revealed dermolytic blister formation in the skin characteristic of the disease. To develop a biochemical test for use in antenatal diagnosis of RDEB, we established skin fibroblast cultures from the 20-week aborted fetus. The collagenase production by fetal RDEB fibroblast cultures was greater than seen in normal fetal fibroblast cultures. The concentration in culture medium from fetal RDEB cultures was 5.42 +/- 0.74 micrograms/ml (mean +/- SE) compared with 2.24 +/- 1.11 micrograms/ml in normal adult control cultures and 2.05 +/- 0.61 micrograms/ml in cultures from patients with other genetic forms of epidermolysis [bleep] (p less than 0.025). In contrast, the concentration of collagenase in the fetal RDEB culture medium was not different from that seen in cell cultures from known patients with RDEB (5.34 +/- 1.12 micrograms/ml). Collagenase activity of the fetal RDEB medium was also increased approximately 3.5-fold. These data indicate that enhanced expression of collagenase by fetal RDEB skin fibroblasts can serve as a biochemical adjunct, and possibly an alternative, to morphologic examination of tissue for antenatal diagnosis.

Fetoscopy is the endoscopic visualization of the fetus. The optimal time for doing this procedure is 18-20 weeks of gestation.

The fetoscope has a small field of view and so entire fetal visualization is difficult.

Fetoscopy provides a means of obtaining fetal skin or liver biopsies. Indications for fetoscopy include:

fetal inspection - facial and limb defect syndromes
fetal blood sampling - haemophilia A & B, fragile X syndrome, beta-thalassaemia, sickle cell disease, alpha-1-antitrypsin deficiency
fetal skin biopsy - lethal epidermolysis [bleep]
fetal liver biopsy - ornithine transcarbamylase deficiency Even in experienced centres, the risk of abortion with fetoscopy is about 5%.

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decembermist · Credits: 41081 My Scrapbook

dutta says muscle biopsy also

So wats the final ans

guest · Credits: 78294 My Scrapbook My Reading List 262569 Books

Muscle biopsy is definitely there, only the above mentioned site does not mention it.

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Here is a good site by emedicine for prenatal diagnosis.

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manpreet108 · Credits: 30682 My Scrapbook

so noneof these should be the ans right?

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