Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?
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%).


CONCLUSIONS
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.
Pahi
J
J
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Phadke
S R
SR
Halder
A
A
Gupta
A
A
Pandey
R
R
Agarwal
S S
SS
D001344:Autopsy; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal