Abstract

In this study, we aimed to compare prenatal ultrasound (USG) and postmortem examination findings of central nervous system (CNS) abnormalities in fetuses following termination of pregnancy (TOP). A total of 190 fetuses with USG-confirmed fetal CNS abnormalities of terminated pregnancies between January 2001 and January 2017 were retrospectively analyzed and USG and postmortem examination findings were compared. The most frequent CNS abnormalities were acrania/anencephaly (n=45, 24%), spina bifida (n=43, 23%), and ventriculomegaly (n=35, 18%). In 144 of the 190 (76%) cases, there was total agreement between USG and postmortem examination diagnosis. Postmortem examination provided minor findings which did not change the major clinical diagnosis in two (1%) cases with spina bifida and ventriculomegaly. In six (3%) cases, the diagnosis changed after postmortem examination. In 25 of the 190 (13%) cases with multiple abnormalities as evidenced by USG, CNS abnormality was unable to be confirmed at postmortem examination. Our study results show an overall high agreement (76%) between USG and postmortem examination findings for CNS malformations. Due to autolysis and fluid structure, USG-confirmed CNS diagnosis cannot be always confirmed by postmortem examination. This potential discrepancy should be explained to patients before considering TOP. Postmortem examination is the gold standard to confirm prenatal diagnosis.

Highlights

  • A prenatal ultrasound (USG) examination and a postmortem examination are the mainstays of a correct diagnosis in fetuses of terminated pregnancies due to congenital abnormalities [1, 2]

  • The diagnosis at USG scan was compared with the postmortem examination findings in all cases

  • There was a total agreement between the USG and postmortem examination diagnosis in 144 of the 190 (76%) cases (Group A, Figure 1)

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Summary

Introduction

A prenatal ultrasound (USG) examination and a postmortem examination are the mainstays of a correct diagnosis in fetuses of terminated pregnancies due to congenital abnormalities [1, 2]. The risk of false-positive diagnosis of congenital abnormalities is a major concern in prenatal diagnostics, when termination of pregnancy (TOP) is an option. The definite diagnosis of major congenital abnormalities is of utmost importance to decide TOP. The confirmation of ultrasound findings is critical for the parents and the obstetrician, and for genetic counseling and epidemiological analysis [3]. The patient can decide to terminate pregnancy in case of false-positive diagnoses or, if the major malformation cannot be precisely detected, the patient may refuse TOP. The accurate diagnosis is crucial for both patients and clinicians

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