对产前诊断出的畸形胎儿进行尸检是否有助于遗传咨询？
Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?
作者信息
Pahi J, Phadke S R, Halder A, Gupta A, Pandey R, Agarwal S S
机构信息
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
出版信息
Natl Med J India. 1998 Jul-Aug;11(4):169-70.
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.
背景
许多妊娠因超声诊断胎儿畸形而终止。需要进行详细的胎儿尸检以得出明确诊断，在此基础上才能提供遗传咨询。
方法
对61例因产前超声诊断先天性畸形而终止妊娠的胎儿进行尸检。将超声诊断与尸检后得出的诊断进行比较。
结果
在31例（51%）中，尸检提供了额外的发现。在21例（34.4%）中，尸检改变了初步诊断。修订后的诊断导致18例（29.5%）复发风险发生变化。
结论
仅依靠超声胎儿诊断进行遗传咨询可能有误。对于超声检测到先天性畸形的病例，终止妊娠后应进行详细的胎儿检查，以进行适当的遗传咨询。
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