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Fetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies
Kavitha K1, Neelayadakshi Bhawani Shankar1, Sudha Vasudevan1
1Department of Pathology, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Insights
Neural tube defects (NTDs) are common congenital anomalies. This study found anencephaly most frequent in female fetuses, with associated anomalies and maternal risk factors like lack of folic acid. Intensive screening and genetic counseling are crucial.
Area of Science:
- Medical Science
- Pathology
- Genetics
Background:
- Congenital malformations of the central nervous system (CNS) are a significant cause of intrauterine mortality.
- Neural tube defects (NTDs) represent a major category of these devastating congenital anomalies.
- Understanding the frequency, distribution, and associated factors of NTDs is critical for prenatal care.
Purpose of the Study:
- To determine the frequency and distribution of neural tube defects (NTDs) in a tertiary care setting over 4.5 years.
- To analyze associated fetal anomalies and placental abnormalities in cases of NTDs.
- To investigate the association between maternal risk factors and NTDs.
Main Methods:
- Retrospective study of 48 fetal autopsies diagnosed with NTDs from January 2019 to June 2023.
- Data collected included maternal age, risk factors, fetal sex, associated anomalies, and placental findings.
- Analysis focused on the patterns and correlations of NTDs.
Main Results:
- Anencephaly was the most common NTD observed in the study cohort.
- NTDs were more prevalent in female fetuses compared to males.
- Associated anomalies included renal and urinary tract malformations, diaphragmatic hernia, and limb deformities; single umbilical artery was noted in placental findings.
Conclusions:
- NTDs require intensive screening and thorough documentation of coexistent abnormalities.
- Diagnostic tools like ultrasonography, MRI, or fetal autopsy are essential for accurate diagnosis.
- Prenatal genetic counseling is vital for parents of affected fetuses or those with a history of NTDs.
Abstract:
Introduction and aim Malformations of the central nervous system (CNS) are one of the most devastating, yet most common congenital anomalies. Congenital CNS anomalies are structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental period and have a high intrauterine mortality. This study aimed to determine the frequency and distribution of neural tube defects (NTDs) in a tertiary care center for a period of 4.5 years. The neural tube defect was analyzed along with the other associated anomalies in the fetus. Its association with maternal risk factors was also analyzed. Materials and methods This retrospective study includes a total of 48 cases of neural tube defects, over a period of 4.5 years from January 2019 to June 2023, retrieved from the archives of the Department of Pathology at Saveetha Medical College. The study population included all fetuses diagnosed with NTDs during the fetal autopsies conducted at Saveetha Medical College during the period of study. The variables studied include maternal age, maternal risk factors, sex of the fetus, other associated anomalies in the fetus, and placental anomalies associated with the NTDs. Results A total of 48 cases of NTDs were included in this study. NTDs were more common among the female fetuses when compared with the male fetuses. The most common NTD observed in our study was anencephaly. The associated anomalies seen with NTDs include dysplastic kidney, unilateral renal agenesis, agenesis of urinary bladder, sacral agenesis, diaphragmatic hernia, bilateral talipes equinovarus deformity in both lower limbs. In the present study, among the placental defects seen in fetuses with NTDs, single umbilical artery was seen in four fetuses with NTDs. Twelve out of the 48 females included in the study did not take folic acid supplements during the antenatal period, and two females had a history of neural tube defects in their previous pregnancies. Conclusion This study emphasizes that intensive screening and documentation of coexistent abnormalities of NTDs is needed. Either ultrasonography/MRI or fetal autopsy should be conducted in order to exhibit certain diagnoses and to conduct proper prenatal genetic counseling for parents with fetuses having NTDs or having a history of fetuses with NTDs regarding ongoing and future pregnancies.
