Anencephaly

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Figer-1

📄 Report Sample Line- Anencephaly (During First Trimester / NT Screening)
There is absence of the cranial vault with exposed brain tissue ("frog-eye" appearance). The cerebral hemispheres are not covered by bone, and the cranial contour above the orbits is not visualized. This is consistent with a severe neural tube defect.


Conclussion: 📋 Sonographic findings are consistent with Anencephaly (A lethal neural tube defect).
Recommendation: Early referral to a fetal medicine specialist is advised
Recommend detailed follow-up anomaly scan and genetic counseling or 3D/4D Snan.

Figer-2

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Note: Select English to answer in English, या हिंदी चुनें तो प्रश्नों के उत्तर हिंदी में दीजिए।

1. What is anencephaly? 1. एनेंसेफेली क्या है?
A. A severe neural tube defect with absence of a major portion of the brain, skull and scalp
B. A congenital heart defect
C. An isolated limb defect
D. A type of abdominal wall defect

2. When is anencephaly most reliably diagnosed by ultrasound? 2. अल्ट्रासाउंड द्वारा एनेंसेफेली सबसे विश्वसनीय रूप से कब निदान की जाती है?
A. First-trimester or early second-trimester anatomy scan (often visible by 11–14 weeks)
B. Only during labor
C. Only postnatally
D. Never on ultrasound

3. Typical sonographic features of anencephaly include: 3. एनेंसेफेली के सामान्य सोनोग्राफिक लक्षण कौन से हैं?
A. Absence of cranial vault above orbits, frog-like appearance of face, and absent calvarium
B. Isolated cardiac echo only
C. Normal skull with enlarged posterior fossa
D. Only limb anomalies

4. Maternal serum marker commonly elevated in open neural tube defects is: 4. खुले न्यूरल ट्यूब दोषों में कौन सा मातृ सीरम मार्कर सामान्यतः बढ़ता है?
A. Maternal serum alpha-fetoprotein (MSAFP)
B. Maternal hemoglobin only
C. Maternal cholesterol only
D. Maternal platelet count only

5. Anencephaly is strongly associated with which of the following? 5. एनेंसेफेली किस चीज़ के साथ घनिष्ठ रूप से जुड़ी है?
A. Open neural tube defects and increased MSAFP; recurrence reduced by periconceptional folic acid
B. Maternal asthma only
C. Isolated clubfoot only
D. Always due to infection

6. Best next steps when anencephaly is suspected on screening include: 6. स्क्रीनिंग पर जब एनेंसेफेली का संदेह हो तो सबसे अच्छा अगला कदम क्या है?
A. Confirm with targeted ultrasound, offer genetic counselling and discuss options including continuation or termination per local laws
B. Immediate scheduling of cesarean section
C. No follow-up required
D. Only maternal diet change

7. Fetal MRI is useful in suspected anencephaly to: 7. संदिग्ध एनेंसेफेली में फेटल MRI किस लिए उपयोगी है?
A. Confirm absence of cranial vault, evaluate brain tissue and associated anomalies when ultrasound is inconclusive
B. Assess maternal heart only
C. Replace all ultrasounds
D. Only assess placenta

8. Counseling points for parents after prenatal diagnosis should include: 8. जन्मपूर्व निदान के बाद माता-पिता को दिए जाने वाले परामर्श में क्या शामिल होना चाहिए?
A. Explain the severe prognosis (incompatible with long-term survival), discuss options, provide psychological support and recurrence prevention (folic acid)
B. Reassure all will be normal without further action
C. Recommend immediate fetal surgery in all cases
D. Only advise maternal bed rest

9. Prevention strategies for neural tube defects include: 9. न्यूरल ट्यूब दोषों की रोकथाम के लिए रणनीतियों में क्या शामिल है?
A. Periconceptional folic acid supplementation and public health measures
B. Maternal antibiotics only
C. No known prevention
D. Only smoking cessation

10. If diagnostic testing is declined by parents, recommended follow-up often includes: 10. यदि माता-पिता द्वारा डायग्नोस्टिक परीक्षण अस्वीकृत कर दिया जाता है, तो अक्सर सुझाया गया अनुवर्ती क्या शामिल है?
A. Detailed anatomic ultrasound, offer fetal MRI if needed, and continued supportive counseling
B. No further imaging
C. Immediate delivery without planning
D. Maternal surgery