Value of a complete sonographic survey in detecting fetal abnormalities: correlation with perinatal autopsy

To determine the sensitivity of using a complete anatomic sonographic survey in detecting fetal abnormalities via correlation with perinatal autopsy results.

All perinatal autopsies (1994-2001) with positive findings for at least 1 fetal abnormality and performed by a single perinatal pathologist at our institution were retrospectively reviewed. From these cases, singleton fetuses who received prenatal sonography solely in our unit were identified. The sensitivity of sonography in detecting anomalous fetuses as well as fetal abnormalities and abnormalities by organ system was determined. Abnormalities were classified as major or minor In addition, findings from sonography and autopsy were compared, and their correlation was assigned to 1 of 3 categories.

Of 88 fetuses identified, 85 had 1 or more abnormal structural sonographic findings (sensitivity for fetuses with anomalies, 97%). A total of 372 separate abnormalities were found on autopsy; of the 299 major and 73 minor abnormalities, prenatal sonography showed 224 (75%) and 13 (18%), respectively. There was either complete agreement or only minor differences between sonographic and autopsy findings in 57 (65%) of 88. The sensitivity of sonography in identifying abnormalities was greater than 70% in these systems: central nervous system, cardiac system, urinary system, extremities, genitalia, ribs, and hydrops.

In experienced hands, sonography has 97% sensitivity in detecting anomalous fetuses when compared with perinatal autopsy results. Although the sensitivity of sonography in detecting major fetal abnormalities is 75%, the sensitivity for minor abnormalities is poor, even when using a complete anatomic sonographic survey. Although it has limitations, this type of survey is invaluable for both patients and physicians in diagnosing fetal abnormalities.