Diagnostic Dilemma and Management Challenges in Fetal Tumors at a Tertiary Care Center: An Indian Experience
Kirti Purwar, Abhishek Lachyan, Upma Saxena, Manvi Dua, Sumitra Bachani, Nidhi Sugandhi, Meenakshi Meenakshi, Priyanka Mitra, Mehak M. DilawarAbstract
Fetal tumors often present late during pregnancy, posing diagnostic dilemmas and management challenges.
A retrospective analysis of 11 pregnant women with fetal tumors attending the Fetal Medicine Unit of VMMC and Safdarjung Hospital, New Delhi, between June 2023 and May 2025 was conducted. Data collected included demographic details, gestational age at presentation, genetic test results, and pregnancy outcomes.
Among 11 patients with fetal tumors, sacrococcygeal teratoma (SCT), cardiac rhabdomyoma (CR), gonadal tumors, brain teratoma, and nephroblastoma were found in 4 (36.7%), 3 (27.3%), 2 (18.2%), 1 (9.1%), and 1 (9.1%), respectively. The majority (90.9%) were diagnosed in the third trimester. The mean maternal age was 25.3 years, and about half (54.5%) were second gravida. Magnetic resonance imaging and genetic testing were performed in three (27.3%) and four (36.4%) cases, respectively. Six (54.5%) had cesarean delivery, and nine (81.8%) were live born at term; of these, seven (77.8%) required neonatal intensive care unit admission. Two fetuses with CR showed neurological signs at the time of diagnosis, and all three with CR were confirmed to have tuberous sclerosis complex type 2 via whole exome sequencing after amniocentesis. Two out of three parents underwent Sanger sequencing as it is autosomal dominant: one mother was found to be a carrier and counseled regarding the 50% recurrence risk in future pregnancies, while both parents were normal in the other case, indicating a de novo mutation. Postnatal surgery was performed on four of nine (44.4%) live-born infants: three with SCT and one with nephroblastoma.
Most fetal tumors were diagnosed in the third trimester, highlighting the need for routine third-trimester ultrasound with systematic assessment of fetal anatomy in addition to growth. Genetic diagnosis in CR aids shared decision-making. This study underscores the importance of genetic counseling and a personalized multidisciplinary approach in managing these high-risk pregnancies.