title: Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?
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%).
  
  
  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.
authors.affiliation: Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: J
authors.initials: J
authors.lastname: Pahi
authors.forename: S R
authors.initials: SR
authors.lastname: Phadke
authors.forename: A
authors.initials: A
authors.lastname: Halder
authors.forename: A
authors.initials: A
authors.lastname: Gupta
authors.forename: R
authors.initials: R
authors.lastname: Pandey
authors.forename: S S
authors.initials: SS
authors.lastname: Agarwal
mesh_terms: D001344:Autopsy; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal