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Gustuti, Rina
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Prenatal Diagnosis of Omphalocele and Soft Markers of Chromosomal Abnormalities In The First Trimester Gustuti, Rina
Journal of Midwifery Vol. 10 No. 2 (2025): Published on Desember 2025
Publisher : Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25077/jom.10.2.66-71.2025

Abstract

Physiological herniation of the fetal midgut into the umbilical cord occurs during early embryonic development as a result of limited intra-abdominal space and is considered a normal finding until approximately 10-11 weeks of gestation. Persistence of midgut herniation beyond 12 weeks of gestation, or the presence of a herniated mass with a diameter exceeding 7 mm, is regarded as pathological and consistent with a diagnosis of omphalocele. Early identification during the first trimester is of substantial clinical importance, as omphalocele is frequently associated with chromosomal abnormalities, particularly trisomy 18, trisomy 13, and trisomy 21. In this setting, healthcare providers especially midwives working in close collaboration with fetomaternal specialists play a pivotal role in early screening, timely referral, and provision of psychosocial support. We report the case of a 22-year-old woman, gravida 2 para 1 abortus 0 living 1 (G2P1A0H1), at 11 weeks of gestation, who presented with hyperemesis gravidarum complicated by mild to moderate dehydration and reduced oral intake. Fetomaternal ultrasonography demonstrated a single live intrauterine fetus consistent with gestational age, with a crown– rump length of 39.4 mm (15.3rd percentile) and a regular fetal heart rate of 164 beats per minute. Notable findings included a markedly increased nuchal translucency of 6.8 mm, visualization of the nasal bone, normal ductus venosus Doppler flow, and a 9-mm membranous herniation at the umbilical cord insertion, consistent with omphalocele. In conclusion, first-trimester ultrasonography enabled early prenatal diagnosis of omphalocele accompanied by chromosomal soft markers. Further management includes cytogenetic analysis and a detailed second- trimester anatomical assessment, supported by comprehensive counseling to facilitate informed clinical decision-making.
Prenatal Diagnosis and Perinatal Management of Gastroschisis: A Case Report Gustuti, Rina; Mutiara, Farah; Yusrawati
Journal of Midwifery Vol. 10 No. 2 (2025): Published on Desember 2025
Publisher : Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25077/jom.10.2.72-77.2025

Abstract

Background: Gastroschisis is a congenital abdominal wall defect characterized by herniation of abdominal organs through a paraumbilical defect without a protective membrane. Prenatal detection plays a crucial role in planning delivery and optimizing neonatal management. Case Presentation: We report a case of a 39-year-old pregnant woman, G4P2A1L2, who presented at 36–37 weeks of gestation with latent phase of labor and a history of two previous cesarean sections. Antenatal ultrasonography revealed a singleton live intrauterine fetus with suspected gastroschisis, demonstrated by herniation of fetal bowel outside the abdominal cavity without a covering membrane. Fetal well-being assessment using cardiotocography showed a category I tracing. Delivery was performed by cesarean section due to maternal obstetric indications. A male neonate was delivered with a birth weight of 2415 grams, and postnatal Ballard scoring indicated a gestational age of approximately 36 weeks. The neonate was planned for further management according to clinical condition. Conclusion: Prenatal diagnosis of gastroschisis allows for appropriate delivery planning and early neonatal management. A multidisciplinary approach involving obstetricians, neonatologists, and pediatric surgeons is essential to improve outcomes in neonates with congenital  abdominal wall defects.