A Rare Syndromic Fetal Anomaly Associated with Maternal Hypertension and Anemia: A Case Report

A bstract Congenital anomalies are a major contributor to perinatal morbidity and mortality, especially in low-resource settings. Neural tube defects and craniofacial malformations can be associated with maternal nutritional deficiencies, anemia, and chronic hypertension. We report the case of a 25-year-old gravida 2, para 1 woman with chronic hypertension and severe anemia who presented late for antenatal care. A 23-week anomaly scan revealed multiple congenital anomalies. Medical termination of pregnancy was performed at 19 weeks and 3 days based on first-trimester dating. Post-delivery examination revealed a large occipital encephalocele, midline cleft lip/palate, limb abnormalities, imperforate anus, and ambiguous genitalia. Despite no genetic testing, findings suggested a possible trisomy 13 syndrome. The mother received comprehensive pre- and post-abortion care. Emotional and genetic counseling were provided to the family. This case emphasizes the need for early antenatal care, maternal nutritional support, and prenatal screening. Preventable maternal risk factors may result in syndromic fetal anomalies in resource-limited settings. Although no definitive diagnosis could be established due to lack of genetic testing, the combination of anomalies strongly suggested a syndromic etiology.

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Publication Details

Journal
Journal of Pediatric Neurosciences
Published
2025-10-01
DOI
https://doi.org/10.4103/jpn.jpn_99_25
Primary Topic
Folate and B Vitamins Research
Type
article
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article

A Rare Syndromic Fetal Anomaly Associated with Maternal Hypertension and Anemia: A Case Report

Kanchan Sharma, Nisha Yadav, Ghanshyam Rathore
Journal of Pediatric Neurosciences
Folate and B Vitamins Research
article

A Rare Syndromic Fetal Anomaly Associated with Maternal Hypertension and Anemia: A Case Report

Kanchan Sharma, Nisha Yadav, Ghanshyam Rathore
article en

Abstract

A bstract Congenital anomalies are a major contributor to perinatal morbidity and mortality, especially in low-resource settings. Neural tube defects and craniofacial malformations can be associated with maternal nutritional deficiencies, anemia, and chronic hypertension. We report the case of a 25-year-old gravida 2, para 1 woman with chronic hypertension and severe anemia who presented late for antenatal care. A 23-week anomaly scan revealed multiple congenital anomalies. Medical termination of pregnancy was performed at 19 weeks and 3 days based on first-trimester dating. Post-delivery examination revealed a large occipital encephalocele, midline cleft lip/palate, limb abnormalities, imperforate anus, and ambiguous genitalia. Despite no genetic testing, findings suggested a possible trisomy 13 syndrome. The mother received comprehensive pre- and post-abortion care. Emotional and genetic counseling were provided to the family. This case emphasizes the need for early antenatal care, maternal nutritional support, and prenatal screening. Preventable maternal risk factors may result in syndromic fetal anomalies in resource-limited settings. Although no definitive diagnosis could be established due to lack of genetic testing, the combination of anomalies strongly suggested a syndromic etiology.

Journal of Pediatric NeurosciencesVol. 20(4)
Maharishi Markandeshwar University, Mullana (IN), All India Institute of Medical Sciences Bhopal (IN), All India Institute of Medical Sciences (IN)
Zero hunger
Openalex Percentile: Top 28%
Folate and B Vitamins Research
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A Rare Syndromic Fetal Anomaly Associated with Maternal Hypertension and Anemia: A Case Report — Kanchan Sharma, Nisha Yadav, et al. · Journal of Pediatric Neurosciences (2025) | TGRS Research Map | TGRS