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Confirmation of Heart Malformations in Fetuses in the First Trimester Using Three-Dimensional Histologic Autopsy
Dan Ruican1, Ana-Maria Petrescu, Anca-Maria Istrate-Ofiţeru
1Department of Obstetrics and Gynecology, University Emergency County Hospital, and the Doctoral School, the Department of Histology, the Research Centre for Microscopic Morphology and Immunology, and the Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, Craiova, Romania.
Insights
Three-dimensional (3D) reconstruction of histology slides effectively confirms congenital heart disease (CHD) detected in early pregnancy ultrasounds. This advanced imaging technique aids in diagnosing fetal heart malformations and provides valuable diagnostic information.
Area of Science:
- Medical Imaging
- Pathology
- Fetal Medicine
Background:
- First-trimester fetal cardiac ultrasonography can detect congenital heart disease (CHD).
- Conventional autopsy of small first-trimester fetal hearts is challenging.
- Current CHD confirmation methods are often specialized and costly.
Purpose of the Study:
- To assess the utility of 3D reconstruction of histology slides for confirming first-trimester fetal CHD.
- To provide a more accessible method for verifying fetal cardiac anomalies.
Main Methods:
- Utilized an extended first-trimester ultrasound protocol for fetal heart anomaly diagnosis.
- Performed fetal heart extraction after pregnancy termination, followed by histology slide preparation and scanning.
- Employed 3D reconstruction software for volume rendering and analysis by a multidisciplinary team.
Main Results:
- Evaluated six fetuses with various heart malformations including hypoplastic left heart syndrome and transposition of the great arteries.
- Histologic 3D imaging confirmed ultrasound-detected anomalies.
- The technique also identified additional previously undetected malformations.
Conclusions:
- Histologic 3D imaging is valuable for confirming fetal cardiac malformations identified via first-trimester ultrasound.
- This method can refine diagnoses, aiding in recurrence risk counseling.
- It offers the benefits of standard histology with enhanced visualization.
Background:
We aimed to evaluate the usefulness of three-dimensional (3D) reconstruction of histology slides to confirm congenital heart disease (CHD) detected by first-trimester fetal cardiac ultrasonography. Conventional autopsy is hindered by the small size of the first-trimester fetal heart, and current CHD confirmation studies employ the use of highly specialized and expensive methods.
Technique:
An extended first-trimester ultrasound examination protocol was used to diagnose fetal heart anomalies. Medical termination of pregnancies was followed by fetal heart extraction. The specimens were sliced, and the histology slides were stained and scanned. The resulting images were processed, and volume rendering was performed using 3D reconstruction software. The volumes were analyzed by a multidisciplinary team of maternal-fetal medicine subspecialists and pathologists and compared with ultrasound examination findings.
Experience:
Six fetuses with heart malformations were evaluated using histologic 3D imaging: two with hypoplastic left heart syndrome, two with atrioventricular septal defects, one with an isolated ventricular septal defect, and one with transposition of the great arteries. The technique allowed us to confirm ultrasound-detected anomalies and also identified additional malformations.
Conclusion:
After pregnancy termination or loss, histologic 3D imaging can be used to confirm the presence of fetal cardiac malformations detected during first-trimester ultrasound examination. Additionally, this technique has the potential to refine the diagnosis for counseling regarding recurrence risk and retains the advantages of standard histology.
