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Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study

  • Original Article
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Journal of Fetal Medicine

Abstract

The study aimed to determine the role of autopsy in refining the antenatal diagnosis of fetal anomalies and its effect on genetic counseling. The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. The genetic counselling based on antenatal findings were compared with that based on postnatal findings and any change in the counselling given were noted and analysed. More than 70% of anomalies among the 46 fetuses included in the study were detected by the mid trimester anomaly scan. Male predominance was seen in this study (24 male fetuses). A definitive diagnosis or documentation of anomalies by autopsy was possible in all 46 fetuses (100%). Single system anomalies were noted in 24 (52.17%) fetuses and multisystem involvement was observed in 19 (41.3%) fetuses. Among fetuses with multiple malformation syndrome, 15.8% of fetuses had probable single gene etiology, 26.3% were probably sporadic and 57.9% were unclassified. Autopsy was valuable in prenatal genetic counseling by confirming the USG findings with (5) or without additional information (30) in 35/46 (76.1%) cases and by changing the diagnosis in 11/46 (23.9%) cases. Autopsy led to refinement of the recurrence risk in 23.9% of cases (increased in 19.6% and decreased in 4.3%). From the present study, we conclude that the results demonstrate a good correlation between prenatal diagnosis by USG and post mortem diagnosis by autopsy. Prenatal ultrasound and postnatal autopsy are complementary and supplement each other. The value of autopsy in reconfirming the ultrasound finding and providing additional information is irrefutable. Though autopsy may not provide exact diagnosis or establish definitive etiology, it is an invaluable tool for genetic counseling in fetal anomalies.

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Acknowledgement

We thank the institute for funding the project and the Department of OBG and Pathology for supporting the study. We are immensely indebted the parents who consented to give away their demised fetuses for autopsy.

Funding

The study was funded by the Intra-mural Grant of Rs. 100,000 obtained through JIPMER research fund.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), House No.2, New Type VB Quarters, JIPMER Campus, Dhanvantri Nagar, Gorimedu, Pondicherry, India

    Mamatha Gowda, Shanthi Paranthaman, Monica Thiagarajan & Laxmi Godipelli

  2. Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India

    Sajini Elizabeth Jacob

Authors
  1. Mamatha Gowda
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  2. Shanthi Paranthaman
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  3. Sajini Elizabeth Jacob
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  4. Monica Thiagarajan
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  5. Laxmi Godipelli
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Correspondence to Mamatha Gowda.

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Gowda, M., Paranthaman, S., Jacob, S.E. et al. Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study. J. Fetal Med. 6, 69–79 (2019). https://doi.org/10.1007/s40556-019-00205-x

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  • DOI: https://doi.org/10.1007/s40556-019-00205-x

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