Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

Abstract

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

A pathological approach to anomalies of the posterior fossa

“…This limits the comparison of sonographic and pathologic diagnoses, a problem that has been noted in several studies (Isaksen et al, 1998;Carroll et al, 2000;Tsao et al, 2002;Phillips et al, 2006). The rate of pathological confirmation of CNS anomalies varies widely, from 25% (Sun et al, 1999) to 100% (Aletebi and Fung, 1999). The quality and preservation of the tissue under examination also contributes to the level of diagnostic agreement, and is detrimental when poor.…”

Perinatal Pathologic Examination of Nonintact, Second-Trimester Fetal Demise Specimens: The Value of Standardization

“…Many physicians offer autopsy rather than surgical pathology examination of the fetus, although evidence supporting the value of autopsy in nonintact specimens is limited and only in nondemise cases. 4,11 A pediatric or perinatal pathologist may not be available at all centers, and the lack of standardization for examination leaves a paucity of clinical counseling points about the possible findings of the examination.…”

“…Central nervous system and cardiac anomalies had the greatest discordance between ultrasound and autopsy correlation, a finding consistent with a previous study on D&E specimens. 4 A case series of 37 nonintact fetuses terminated owing to congenital anomalies identified a major anomaly in 92% of cases. 11 In 46% of cases, a specific diagnosis was found only on pathologic examination.…”

“…1,3 Patients have traditionally been counseled to undergo induction of labor if they desire higher-yield pathologic examination. This recommendation may be appropriate for women terminating a pregnancy for known fetal anomalies, 4 but evidence supporting the pathologic benefit of labor induction over D&E for women with a spontaneous fetal demise is lacking.…”

Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature

“…nuchal translucency [13][14][15][16][17][18][19][20][21] Antenatal sonography in second trimester not only confirms the diagnosis but also differentiates it from the other non-lethal dysplasias. Three dimensional ultrasound is able to visualize the thickened redundant skin fold, limb and craniofacial anomalies more clearly.…”