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Correlation between prenatal ultrasound and autopsy findings: a study on first trimester abortion

par Votino, Carmela ;Cos Sanchez, Teresa ;Votino, R.;Condorelli, Margherita ;Segers, Valérie ;Bessieres, Bettina
Référence 23rd World Congress on Ultrasound in Obstetrics and Gynecology (Sydney)
Publication Publié, 2013-10-01

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Résumé :

Objectives: The aim of the study is to evaluate discrepanciesbetween sonographic and autopsy findings following terminationof pregnancy (TOP) before 14 weeks’ gestation (WG).Methods: In a 4-year long prospective study, 48 first-trimestersTOP were performed due to fetal malformations or chromosomalabnormalities in a tertiary referral center. All patientsunderwent a vaginal delivery and a classical autopsy was performed.Ultrasound findings were compared with fetal autopsyfindings.Results: Median gestational age at termination was 13 WG and3 days. The 48 major fetal anomalies diagnosed by prenatalultrasound were: 23 chromosomal abnormalities, 7 severe neuraltube defects, 6 congenital heart diseases, 2 body stalk syndromes,1 rubella infection, 1 sickle cell anaemia, 2 kystic hygroma, 1 lowurinary tract obstruction , 2 Fetal Akinesia Deformation Sequence, 1 Cantrell Pentalogy, 2 amniotic band syndrome. All of these majorabnormalities were confirmed by fetal autopsy and no pregnancieswere terminated because of false positive ultrasound observations.Overall, a full concordance between sonographic and autopsyfindings was observed only in 50% of the cases. Discordancesconcerned the skeletal system in 22% of the cases, cranio-facialsystem in 10%, gastrointestinal system in 8%, genitourinarysystem in 8%, cardiovascular system in 4%. Concerning thecentral nervous system, specimens could not be analyzed in 30%of the cases due to their size and the tissue maceration; inthe remaining cases, discordance was observed in 6% of thecases.Conclusions: Fetal autopsy may provide additional information tothe ultrasonographic morphological evaluation of the fetus submittedto TOP due to chromosomal abnormalities or malformationsbefore 14 weeks’ gestation. The combination of prenatal ultrasoundand pathological examination can contribute to improve the qualityof perinatal care and of preconceptional counseling for subsequentpregnancies.