Location
Moultrie, GA
Start Date
17-4-2026 12:00 PM
End Date
17-4-2026 1:00 PM
Description
Introduction: Anencephaly is a severe neural tube defect resulting from failure of anterior neuropore closure during the fourth week of embryonic development. It is characterized by the absence of the cranial vault and cerebral hemispheres and is associated with uniformly poor fetal prognosis. Folate deficiency is the most established risk factor, and periconceptional folic acid supplementation significantly reduces the incidence of neural tube defects.
Case Presentation: We present a case of a 32-year-old gravida 6 para 5 female who was found to have an abnormal cranium on routine second-trimester ultrasonography. She came in on her first obstetrics appointment at 12 weeks and 1 day, where she had an ultrasound done, which showed an abnormal fetal head on view. Then, she was told to follow up in two weeks to repeat these views of the fetal head. When she came back for the follow-up, repeat ultrasound showed an abnormal cranium. She was referred to maternal-fetal medicine for further evaluation of anencephaly.
Discussion: This condition is the failure of the neural tube to close during early fetal development. Most commonly, this occurs 3-4 weeks after fertilization. Although the etiology remains unknown to this day, folate deficiency is the most firmly established cause of this condition. Supplementing mom with folic acid prior to conception and early in her pregnancy can decrease the risk of anencephaly and other neural tube defects. Diagnosis is made by ultrasonography, which shows the absence of the brain and calvaria. This is most commonly seen in second- or third-trimester examinations. Ultrasonography is very accurate in the diagnosis. Polyhydramnios is another common ultrasonographic feature of this condition, due to decreased fetal swallowing. Management of anencephaly involves thorough counseling regarding the uniformly lethal nature of the condition, options for pregnancy continuation versus termination, and potential maternal risks, including polyhydramnios, malpresentation, and complicated labor. Early detection through prenatal screening allows for timely counseling and informed decision-making.
Outcome: Follow-up records after referral were unavailable; therefore, the final maternal and fetal outcomes could not be determined. This case emphasizes the importance of early prenatal diagnosis, folic acid supplementation, and comprehensive counseling in the management of lethal neural tube defects.
Embargo Period
5-28-2026
Included in
A Case Study of Anencephaly: Diagnosis, Management and Maternal-Fetal Outcome
Moultrie, GA
Introduction: Anencephaly is a severe neural tube defect resulting from failure of anterior neuropore closure during the fourth week of embryonic development. It is characterized by the absence of the cranial vault and cerebral hemispheres and is associated with uniformly poor fetal prognosis. Folate deficiency is the most established risk factor, and periconceptional folic acid supplementation significantly reduces the incidence of neural tube defects.
Case Presentation: We present a case of a 32-year-old gravida 6 para 5 female who was found to have an abnormal cranium on routine second-trimester ultrasonography. She came in on her first obstetrics appointment at 12 weeks and 1 day, where she had an ultrasound done, which showed an abnormal fetal head on view. Then, she was told to follow up in two weeks to repeat these views of the fetal head. When she came back for the follow-up, repeat ultrasound showed an abnormal cranium. She was referred to maternal-fetal medicine for further evaluation of anencephaly.
Discussion: This condition is the failure of the neural tube to close during early fetal development. Most commonly, this occurs 3-4 weeks after fertilization. Although the etiology remains unknown to this day, folate deficiency is the most firmly established cause of this condition. Supplementing mom with folic acid prior to conception and early in her pregnancy can decrease the risk of anencephaly and other neural tube defects. Diagnosis is made by ultrasonography, which shows the absence of the brain and calvaria. This is most commonly seen in second- or third-trimester examinations. Ultrasonography is very accurate in the diagnosis. Polyhydramnios is another common ultrasonographic feature of this condition, due to decreased fetal swallowing. Management of anencephaly involves thorough counseling regarding the uniformly lethal nature of the condition, options for pregnancy continuation versus termination, and potential maternal risks, including polyhydramnios, malpresentation, and complicated labor. Early detection through prenatal screening allows for timely counseling and informed decision-making.
Outcome: Follow-up records after referral were unavailable; therefore, the final maternal and fetal outcomes could not be determined. This case emphasizes the importance of early prenatal diagnosis, folic acid supplementation, and comprehensive counseling in the management of lethal neural tube defects.