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Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?
Author(s): Pahi J, Phadke SR, Halder A, Gupta A, Pandey R, Agarwal SS
Source: NATIONAL MEDICAL JOURNAL OF INDIA    Volume: 11    Issue: 4    Pages: 169-170    Published: JUL-AUG 1998  
Times Cited: 2     References: 9     
Abstract: Background. Many pregnancies are terminated because of ultrasonographic diagnosis of malformation in the foetus. A detailed foetal autopsy is needed to arrive at a definite diagnosis on the basis of which genetic counselling can be provided.

Methods. Sixty-one foetuses, terminated because of antenatal diagnosis of congenital malformations by ultrasound, were autopsied. The ultrasound diagnosis was compared with the diagnosis reached after autopsy.

Results, In 31 cases (51%) the autopsy provided additional findings. In 21 cases (34.4%), the autopsy changed the primary diagnosis. The revised diagnosis led to a change in the risk of recurrence in 18 cases (29.5%).

Conclusion; Genetic counselling depending solely on ultrasonographic foetal diagnosis may be erroneous. For appropriate genetic counselling, a detailed foetal examination should be carried out after termination in cases with ultrasonographically detected congenital malformations.

Document Type: Article
Language: English
Reprint Address: Phadke, SR (reprint author), Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Rae Bareli Rd, Lucknow 226014, Uttar Pradesh India
Addresses:
1. Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow 226014, Uttar Pradesh India
2. Sanjay Gandhi Postgrad Inst Med Sci, Dept Radiol, Lucknow 226014, Uttar Pradesh India
3. Sanjay Gandhi Postgrad Inst Med Sci, Dept Pathol, Lucknow 226014, Uttar Pradesh India
Publisher: ALL INDIA INST MEDICAL SCIENCES, ANSARI NAGAR, NEW DELHI 110 029, INDIA
Subject Category: Medicine, General & Internal
IDS Number: 134XQ
ISSN: 0970-258X
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