Fetal Anencephaly Case

Case Presentation

Patient: 28-year-old G4P2+1

Presenting Complaint:

• Referred from Antenatal Clinic (ANC) to Maternity Ward based on ultrasound findings of fetal anencephaly.

Fetal Anencephaly/acrania

History of Present Pregnancy:

• Term pregnancy (38-40 weeks gestation).

• No labor pains.

• No vaginal bleeding.

Past Medical History:

• G4P2+1

Past Surgical History:

• None reported.

Family History:

• No relevant family history.

Social History:

• No significant social history.

Obstetric History:

• Gravida 4: 4 pregnancies

• Para 2: 2 live births

• Abortion 1: 1 abortion

• Living children: 2

Physical Examination:

• General: Fair general condition, afebrile, no pallor, no edema.

  Weight =57kg, Bp =99/70mmHg, PR=89bpm

• Abdomen:

  • Fundal Height: 38/40 cm

  • Fetal Presentation: Cephalic

  • Fetal Lie: Longitudinal

  • Fetal Heart Rate: Heard and regular

    
    

• Per Vaginum:

  • Vagina and vulva: Normal appearance

  • Cervical os: Accommodates a tip of a finger

• Pelvic Examination: Adequate

Doctor's Plan:

• Repeat obstetric ultrasound scan for fetal anatomical survey.

• Induce labor with Dinoprostone 2mg

• Monitor labor progress

Investigations:

• Initial Ultrasound: Suspected fetal anencephaly.

• Repeat Ultrasound: Revealed

  • Single live intrauterine fetus.

  • 38 weeks gestation.

  • Partial acrania.

Obstetric Ultrasound Report

Findings;

There is single live intrauterine fetus in cephalic presentation, longitudinal lie and right occipital anterior position.

There is a large defect seen in the fetal Calvarium allowing dysmorphic tissue resembling brain tissue to protrude into the liquor amni. The lateral ventricles, thalamus, cistern magna and cerebellum are not well differentiated. The fetal face depicts a froglike appearance. The fetal spine is intact and closed. There is no nuchal cord seen.

A four-chamber fetal heart is seen with its apex pointing to the left demonstrating regular cardiac activity; FHR=126bpm

Fetal lungs, diaphragm, liver, spleen and both kidneys are shown. The fetal anterior abdominal wall is intact with a normal three vessel cord insertion. A left sided fluid filled stomach and urinary bladder are seen. Fetal upper and lower limbs are shown.

Amniotic fluid volume is adequate for the gestation sac; AFI =25.6cm.

The placenta is fundo anterior, its intact with the uterine wall, grade III maturity and not low lying. The internal cervical os is closed, the cervical length measures 3.92cm.

Both maternal kidneys and other abdominal organs appear normal

Fetal Biometry;

BPD = Not measured	EFW = Not configured by biomtries
HC = Not measured	AGA = 38Weeks
AC = 24.76cm	EDD = 04/02/2025
FL = 7.48cm	(+/- 2 weeks)

Conclusions;

Single live intrauterine fetus with acrania in cephalic presentation, longitudinal lie and right occipital anterior position at 38 weeks.

Discussion:

This case presents a 28-year-old pregnant woman with a history of 3 previous pregnancies and 2 live births. She is currently at term and was referred from ANC due to initial ultrasound findings suggestive of fetal anencephaly.

Anencephaly is a severe neural tube defect characterized by the absence of a major portion of the brain and skull.  

The patient's physical examination revealed a normal maternal condition with a viable fetus. The repeat ultrasound confirmed a single live intrauterine fetus but with the significant finding of acrania, consistent with the initial suspicion of anencephaly.

While both are severe fetal abnormalities related to the skull and brain development, "anencephaly" refers to the absence of a significant portion of the brain itself, while "acrania" specifically means the absence of the cranial vault (skull), which can lead to exposed and often damaged brain tissue due to the lack of bony protection; essentially, anencephaly is a neural tube defect where the brain is missing, while acrania is a skeletal defect where the skull is missing, often leading to severe brain damage in the affected fetus. 

Key differences:

• Brain involvement:

  Anencephaly primarily affects the brain tissue itself, causing a significant lack of brain development, whereas acrania mainly affects the skull structure, potentially exposing underdeveloped brain tissue to amniotic fluid. 

• Severity progression:

  Acrania can sometimes progress to anencephaly as the exposed brain tissue deteriorates due to the lack of skull protection. 

Important points to remember:

• Both anencephaly and acrania are considered lethal fetal abnormalities, the baby in this case only lived for 3 days after delivery and died. These conditions are usually diagnosed prenatally through ultrasound. 

• Both conditions are considered neural tube defects, arising from the failure of the neural tube to close properly during early embryonic development. 

• When discussing these conditions, it's important to understand the distinction between the missing skull (acrania) and the missing brain tissue (anencephaly). 

Further Management:

Given the diagnosis of fetal anencephaly, further management will likely involve:

• Counseling: In-depth counseling for the parents regarding the diagnosis, prognosis, and available options.

• Genetic Counseling: To assess the risk of recurrence in future pregnancies.

• Delivery Planning:

  • Discuss options with the parents, including expectant management, induction of labor, or cesarean section.

• Pain Management: Appropriate pain management for labor and delivery.

• Support Services: Provide emotional and psychological support to the parents throughout the pregnancy and after delivery.

Disclaimer: This is a sample case presentation. The actual management plan will depend on the specific circumstances of the case, the severity of the condition, and the preferences of the parents.

Note: This case presentation is for informational purposes only and does not constitute medical advice.

Key Considerations:

• Ethical Considerations:

  • Respect for parental autonomy in decision-making regarding pregnancy and delivery.

  • Open and honest communication with the parents about the diagnosis and prognosis.

• Psychosocial Support:

  • Provide comprehensive emotional and psychological support to the parents throughout this challenging time.

This information should be used in conjunction with a thorough medical evaluation and discussion with healthcare professionals.