Swamy Vivekananda College of Pharmacy.
Myelomeningocele, the most severe form of neural tube defect, results from the failure of neural tube closure during early embryogenesis and is influenced by maternal metabolic, nutritional, and environmental factors. Poorly controlled diabetes, chronic hypertension, and inadequate folic acid intake substantially increase fetal risk. Early prenatal screening through detailed ultrasonography allows timely identification of neural tube defects and guides decision-making in high-risk pregnancies. This report describes a 32-year-old multigravida with chronic hypertension and newly diagnosed type 2 diabetes who presented at 23 weeks and 4 days of gestation for evaluation of a suspected fetal anomaly. Ultrasonography confirmed a sacral meningomyelocele without associated structural abnormalities. The patient reported inconsistent use of folic acid supplements and had a history of adverse obstetric outcomes. After counseling, medical termination of pregnancy was performed at 23 weeks and 6 days, followed by appropriate post-procedural management. This case underscores the strong interplay between maternal metabolic status and fetal neural development, emphasizing the critical role of early screening and optimized antenatal care [7][8].
Myelomeningocele is a serious neural tube abnormality that usually occurs in the first month of pregnancy and is caused on by inadequate spinal cord closure during early fetal development [1][2]. Depending on where the lesion is located along the spine, myelomeningocele is linked to substantial neurological deficits. While lower spinal lesions mostly produce paralysis, sensory loss, and bladder or bowel problems, higher lesions frequently cause more severe motor deficits, such as paraplegia. Therefore, if a myelomeningocele is discovered later or is not treated, the prognosis is usually worse.[3]. Environmental exposures, maternal health conditions, insufficient folic acid consumption prior to pregnancy, and genetic predispositions, including chromosomal abnormalities like trisomy 18 or 13, are risk factors for myelomeningocele Myelomeningocele frequently has a complex etiology that includes genetic, maternal, and environmental variables. Radiation exposure, several forms of pollution, pesticides, chemical solvents, and teratogens are examples of environmental influences. Inadequate pre-pregnancy folic acid supplementation, poor nutrition, caffeine, alcohol, and smoking are only a few of the many maternal variables. Anticonvulsant use and maternal diseases such diabetes, obesity, anxiety, and hyperthermia may also increase the risk.[1]
Some people with spina bifida have also been shown to have specific genetic abnormalities that impact planar cell polarity processes and enzymes involved in folate metabolism.[4]
A visible sac-like protrusion over the sacral area that contains meninges, cerebrospinal fluid, and spinal cord tissue that is covered by a thin membrane is typically used to diagnose sacral meningomyelocele at birth. Detailed fetal ultrasonography and high maternal serum alpha-fetoprotein screening can be used to diagnose pregnancies. The gold standard imaging technique for confirming the defect, determining the degree of spinal cord herniation, and identifying related abnormalities such tethered cord or lipomas is spinal magnetic resonance imaging (MRI). Brain imaging looks for Chiari II malformation, which is often linked to myelomeningocele, and hydrocephalus.[5]
In up to 79% of pregnancies with open spinal dysraphism between 16 and 18 weeks of gestation, maternal serum alpha-fetoprotein levels are 2.5 times higher than the median, making it an initial screening tool.[6]
Hydrocephalus, microcephaly, a tiny cerebellum, and irregular cranial bones are some cranial characteristics of spina bifida that can be seen on ultrasonography. Talipes equinovarus, dilated renal tracts, chromosomal abnormalities, and other disorders linked to myelomeningocele may also be present. Fetal karyotyping, computed tomography (CT), or magnetic resonance imaging (MRI) might be used as further imaging alternatives if ultrasonography is not enough for diagnosis.[4]
In this case , Mothers with poorly managed diabetes mellitus and poor folic acid supplementation during the early stages of pregnancy are more likely to develop myelomeningocele.
We describe a case of a 32-year-old multigravida with a history of diabetes mellitus and chronic hypertension who was diagnosed with an abnormal fetus with sacral meningomyelocele at 23 weeks and 4 days of gestation.
CASE PRESENTATION:
A 32-year-old multigravida (G5P2L1A2D1) was admitted to the Obstetrics and Gynecology department at 23 weeks and 4 days of gestation for evaluation of a fetal anomaly. The patient’s weight was 67 kg. She reported amenorrhea for six months and had experienced quickening. A detailed ultrasonographic anomaly scan revealed a single live intrauterine fetus with sacral meningomyelocele, consistent with a neural tube defect. No history of bleeding, leaking per vaginal, or abdominal pain was reported.
The patient was a known case of Gestational hypertension for the past three months, for which she was on tablet Labetalol 100 mg twice daily. She was also a known Gestational diabetes mellitus for two months, treated with tablet Metformin 500 mg twice daily. She admitted to poor compliance with nutritional supplements, including folic acid and iron.
Her obstetric history was significant:
CLINICAL SIGNIFICANCE
On examination, the patient was conscious, oriented and afebrile. On systemic examination, CVS shows S1S2 (+), RS - Normal vesicular breath sounds (+), P/A – uterus 24 weeks, not acting, fetal parts felt, SPT scar (+), P/V OS admits tip of finger, OS long tubular, cervix unaffected, soft, mild position. On examining biochemistry report of the patient Random blood sugar range 111 mg/dl. On examining renal function test of the patient, blood urea 10mgh/dl, creatinine 0.4 mg/dl, uric acid 1.9mg/dl, calcium 9.3 mg/dl and phosphorous 3.5 mg/dl. Creatinine and uric acid level was found to be decreased. On assessing electrolytes level, it was found to be normal sodium 137mmol/L, 4.0mmol/L and chloride 105mmol/L. ECHO was done for the patient, it shows sinus rhythm (HR-96Bpm), no RWMA, normal LV systolic function (LVEF-58%), MV-AML prolapse/Trivial MR, Normal RV function (S-12cm/s), IAS/IVS Intact, IVC size- 1.7 cm, no pericardial effusion seen, no pleural effusion seen and no LA/LAA/LV clot.
DIAGNOSTIC ASSESSMENT
OB – 2/3 trimester scan report revealed a Cystic lesion of size 3.1X2.1X2 cm noted in the posterior aspect of sacro-coccygeal region with neural elements within- DD: Sacro-coccygeal meningomyelocele. Rest of the spine appears unremarkable. No evidence of any other obvious congenital anomalies seen. Based on radiological finding, a diagnosis of anomalous baby was confirmed and done medical termination of pregnancy.
THERAPEUTIC INERVENTION
The patient was treated with medical termination of pregnancy (MTP) at 23 weeks + 6 days since an abnormality scan revealed a fetus with sacral meningomyelocele. On January 30, 2025, the procedure was performed, and a 720 g male fetus that was not viable was expelled. She was treated with IV antibiotics, PPIs, and analgesics during her hospital stay. In addition, she received cabergoline to prevent lactation once the pregnancy was terminated. On January 02, 2025, Inj. Medroxyprogesterone acetate 150 mg was started as post-expulsion contraception. Labetalol 100 mg BD for chronic hypertension and metformin 500 mg BD for gestational diabetes mellitus were continued to treat her chronic illnesses. Iron supplementation (Livogen), calcium supplementation (Shelcal), misoprostol 200 mcg for uterine contraction, Cefexime as an oral antibiotic therapy, Pantoprazole 40 mg for gastric protection, and Paracetamol 650 mg for pain relief were additional supportive drugs. Because of her history of persistent hypertension, she was advised to have frequent blood pressure checks and to have follow-up blood sugar tests after a month. On January 31, 2025, an ultrasound scan revealed a large uterus with a little intracavitary clot. She was released in stable condition with comprehensive instructions on warning indicators, such as severe headaches, extensive bleeding, vision complaints, or abdominal pain, and was instructed to return right away if any of these occurred.
DISCUSSION
Myelomeningocele remains one of the most severe forms of neural tube defects, with significant neurological implications depending on the lesion’s location on the spinal cord. This case highlights the complexities inherent in the etiology of myelomeningocele, where genetic predispositions intertwine with maternal factors such as poorly controlled diabetes mellitus, chronic hypertension, and inadequate folic acid supplementation. The patient’s obstetric and medical history, including prior complicated pregnancies and non-compliance with nutritional supplements, underscores the importance of rigorous prenatal care and folic acid intake for prevention. Prenatal diagnosis through detailed ultrasonography and biochemical screening like alpha-fetoprotein levels enabled timely identification of the anomaly in this pregnancy, facilitating informed decision-making regarding pregnancy management. The early detection of sacral meningomyelocele at 23 weeks led to medical termination, which was managed with appropriate medical interventions to prevent complications. This case reinforces the crucial role of maternal metabolic control and supplementation in decreasing the risk of neural tube defects and illustrates challenges faced when underlying maternal conditions are suboptimally managed. Consistent antenatal monitoring for high-risk pregnancies should be emphasized, particularly in women with diabetes and hypertension, to mitigate adverse fetal outcomes.
CONCLUSION
This case report emphasizes the significance of early prenatal screening for neural tube defects and illustrates the multifactorial risks contributing to myelomeningocele, notably poorly controlled maternal diabetes and insufficient folic acid consumption. Effective management of maternal chronic conditions and compliance with nutritional supplementation are critical preventive strategies. Enhanced awareness and intervention in high-risk pregnancies can improve fetal outcomes by facilitating early diagnosis and timely clinical decisions. This report highlights the need for stringent prenatal care protocols and patient education to minimize the incidence of severe congenital anomalies such as myelomeningocele.
REFERENCES
Dr. R. Subashini*, S. Priyadharshini, T. Manisha, R. Mounisha, R. Preethi, N. Preethika, A Rare Prenatal Diagnosis of Sacral Myelomeningocele in a High-Risk Multigravida: A Clinical Case Review, Int. J. of Pharm. Sci., 2025, Vol 3, Issue 12, 1942-1946 https://doi.org/10.5281/zenodo.17893132
10.5281/zenodo.17893132
