Correlation of Prenatal Diagnosis and Pathology Findings Following Dilation and Evacuation for Fetal Anomalies
Carolin A Boecking, Eleanor A Drey, Walter E Finkbeiner. UCSF, San Francisco, CA
Background: While pathology examinations are generally recognized as the “gold standard” for confirming clinical diagnoses, D&E procedures typically provide fragmented and/or incomplete specimens making clinical-pathological correlations difficult, imperfect or impossible. However, careful examination of fragmented fetal specimens is valuable and may confirm, supplement or correct diagnoses. In this study, we correlated pathology findings with prenatal diagnoses in D&E specimens.
Design: Clinical and pathology findings in 200 D&E specimens were correlated. Termination of pregnancy was based on abnormal karyotype in 90 cases and abnormal ultrasound examination in 110 cases. The pathology findings, sometimes multiple per individual case, were categorized into 1 of 4 groups (musculoskeletal, cardiac, genitourinary, or central nervous system [CNS]). Cases with multiple defects were also assigned to an additional category, Multiple Anomalies (MA).
Results: Ninety chromosomal abnormalities included trisomy 21 (48), trisomy 18 (23), trisomy 13 (8), and others (11). 51 (57%) of these cases showed at least one abnormality on pathology examination. In 110 cases where ultrasound led to D&E, at least one anomaly was confirmed in 76 (69%) specimens. In 22 of 54 cases of musculoskeletal anomalies, pathology examination confirmed the diagnosis. There were 15 cases with presumed cardiac defects; however, intact hearts were present in only 10 specimens. In these, examinations confirmed ultrasound findings in 6 and altered them in 4. Genitourinary anomalies were confirmed in 22 of 23 cases, with complete agreement in 14. Evaluating for CNS pathology proved challenging due to disruption from the D&E procedure. However, in 34 cases with ultrasound findings—anencephaly (22), encephalocele (4) and spina bifida (8)—the clinical diagnosis was confirmed in 53%. Since fetal anomalies are often complex and involve numerous organs, we also determined how often examinations could identify multiple abnormalities in a single case. Thus, in 68 MA specimens, abnormalities were identified in 48 with complete correlation in 8, partial correlation in 32, and 8 in which defects were incorrectly identified on ultrasound. Taking all categories into account, pathology studies yielded additional diagnostic findings in 21% of cases.
Conclusions: In a substantial number of cases, examination of fragmented fetuses corrects or refines prenatal diagnoses aiding subsequent genetic counseling.
Tuesday, March 5, 2013 1:00 PM
Poster Session IV # 281, Tuesday Afternoon