Correlation of Prenatal Diagnosis and Pathology Findings Following Dilation and Evacuation for Fetal Anomalies

Abstract

Context.-Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied.Objectives.-To correlate pathologic findings in secondtrimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses.Design.-In this retrospective study, clinical and pathology findings were correlated in 448 dilation and evacuation specimens performed for second-trimester termination of pregnancy for fetal anomalies discovered on ultrasound examination (278 cases) or chromosome analysis (170 cases).Results.-In 109 of the 170 cases with chromosomal abnormalities (64%), pathologists identified at least 1 congenital defect associated with the respective karyotype. In 278 cases with ultrasound-detected anomalies, pathologists confirmed the major congenital defect in 116 fetal specimens (42%). Evaluating for congenital central nervous system and body wall/diaphragm pathologic findings proved challenging owing to tissue disruption. However, taking all categories into account, pathology studies corrected ultrasound diagnoses in 152 of 413 cases (37%) and yielded additional diagnostic findings in 137 cases (33%).Conclusions.-In a substantial number of cases, examination of fragmented fetuses corrected or refined prenatal diagnoses, demonstrating a role for detailed pathology examination of dilation and evacuation specimens in quality control of prenatal imaging studies and for potentially aiding subsequent genetic counseling. W hile pathology examinations generally are recognized as the gold standard for confirming clinical diagnoses, dilation and evacuation (D&E) procedures typically provide fragmented and/or incomplete fetal specimens, making clinicopathologic correlations difficult, imperfect, or impossible. Although induction terminations offer the advantage of providing intact specimens, 1-3 studies indicate that most women terminating pregnancy for fetal anomalies prefer D&E. [3][4][5][6] Despite the increasing use of D&E in the setting of fetuses with developmental anomalies, the pathology examination of nonintact fetal specimens obtained by this technique has been understudied. Uncertainty as to whether prenatal diagnosis can be confirmed after D&E may lead to counseling women to undergo induction solely for the purpose of obtaining a fetal autopsy. However, all studies investigating clinicopathologic correlations of specimens obtained from D&E-terminated pregnancies-whether performed for structural or chromosomal abnormalitiesindicate that careful examination of fragmented fetal specimens is valuable and may confirm, supplement, or correct diagnoses. 7-10 As one might expect, this is particularly true if pathologists with expertise in perinatal or pediatric pathology examine the specimens. 11 The aim of our study was to correlate patholo...

How does Fetal Autopsy after Pregnancy Loss or Termination for Anomalies and other Complications Change Recurrence Risk?

“…Such counseling may be particularly relevant for women who are deciding to terminate by induction of labor versus dilation and evacuation (D&E) and feel compelled to choose induction of labor because they believe it will yield more information from an autopsy; based on our findings, desire for an autopsy should not be a deciding factor. 24…”

Nonimmune hydrops foetalis (NIHF): value of fetal autopsy and comparison with ultrasound findings

“…Most of these studies dealt with cases of foetal malformations, stillbirth and neonatal death. [4][5][6][7][8] But, there were only few studies comparing the same in cases of NIHF. 9,10 Hence authors chose to address the accuracy of prenatal USG findings and compare it with perinatal autopsy in cases of NIHF.…”