Prenatal diagnosis and postnatal management of perinatal thoracoabdominopelvic tumors: multicenter experience

Abstract

Objectives: The primary objective was to assess the accuracy of prenatal examination in detecting and characterizing perinatal solid tumors of the thoracoabdominopelvic region. Secondary objectives were to describe the epidemiology, clinical characteristics and outcome of these tumors.

Methods: This was a retrospective multicenter study of all patients with a thoracic, abdominal or pelvic tumor diagnosed prenatally or within the first 3 months after birth in the Île-de-France area between January 2010 and May 2021. The gestational age at which a mass was detected on prenatal imaging, or the postnatal age at which the first tumor-related sign or symptom was noted, in addition to the timing of postnatal diagnostic confirmation (clinicoradiological or pathological), were extracted from patient medical files.

Results: Overall, 153 tumors were identified. An associated congenital malformation was identified in 14 (9%) infants and four (3%) had a known germline pathogenic variant. The main tumor locations were adrenal gland (43%), extra-adrenal and extrarenal retroperitoneum (12%) and kidney (12%). The most common diagnoses were neuroblastoma (93/153 (61%)) (including 65 adrenal, 20 extra-adrenal retroperitoneal and eight thoracic/mediastinal), hepatoblastoma (10/153 (7%)), teratoma (10/153 (7%)), nephroblastoma (8/153 (5%)) and congenital mesoblastic nephroma (7/153 (5%)). In 35% (53/153) of cases, a mass was detected prenatally (mainly during the third trimester (62%)) and the diagnosis was confirmed at a median of 9 (interquartile range (IQR), 2-20) days after birth. Tumor detection was postnatal in 65% (100/153) of cases, mainly on the basis of tumor mass syndrome (39%) or tumor palpation by parents or during a routine medical visit (36%), and occurred at a median of 73 (IQR, 39-104) days after birth. Distant metastasis was noted in 4% (2/53) of cases with a prenatal mass and in 36% (36/100) of cases detected postnatally. Five medical terminations of pregnancy for a compressive tumor were reported, in addition to one in-utero fetal demise. Five (3%) neonates required early supportive intensive care due to respiratory distress, arterial hypertension, intestinal perforation or intestinal obstruction. At a median follow-up of 5 (range, 0-14) years, 136 (89%) patients remained alive.

Conclusions: Only 35% of perinatal thoracic, abdominal and pelvic tumors were detected before birth. Although mainly malignant, their prognosis was largely favorable. Improving early detection may assist postnatal multidisciplinary management and parental guidance. © 2025 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Keywords: abdominal mass; congenital tumor; infant; perinatal tumor; prenatal diagnosis.

Figure 1

Flowchart summarizing timing and accuracy of thoracoabdominopelvic tumor diagnosis in study cohort.

Figure 2

(a) Abdominal ultrasonographic image in axial view of congenital hepatoblastoma (arrow, calipers) in fetus at 32 weeks' gestation. Prenatally, diagnosis of infradiaphragmatic pulmonary sequestration was suspected. (b) Computed tomographic image in axial view in same patient 1 day after birth (arrow indicates tumor). Fetal magnetic resonance imaging was not performed in this case.

Figure 3

(a) Abdominal ultrasonographic image in coronal view of congenital intestinal fibrosarcoma (arrow) in fetus at 32 weeks' gestation. (b) Fetal T2‐weighted magnetic resonance imaging in coronal view in same patient at 36 weeks' gestation (arrow indicates tumor). Following these examinations, initial suspected diagnoses were cystic lymphangioma or digestive duplication.

Figure 4

(a,b) Abdominal ultrasonographic images in axial view of congenital adrenal neuroblastoma (arrow; tumor diameter, 11 mm) in fetus at 31 weeks' gestation (a) and at 33 weeks' gestation (arrow; tumor diameter, 17 mm) (b). (c) Postnatal abdominal ultrasonographic image in same patient, confirming tumor progression (arrow; tumor diameter, 38 mm). Postnatal ‘wait‐and‐see’ surveillance strategy was chosen. Tumor size remained stable during follow‐up. As no regression was observed after 1 year of monitoring, surgical tumor resection was performed without adjuvant therapy. Patient remained in complete remission 7 years later.

Figure 5

Ultrasound images (a,b) and T2‐weighted magnetic resonance imaging (c,d) in sagittal (a,c) and axial (b,d) views, showing paravertebral neuroblastoma () with medullar infiltration (arrow) in fetus at 37 weeks' gestation.