Holoprosencephaly

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Figer-1

📄 Report Sample Line- Alobar holoprosencephaly (During First Trimester / NT Screening)
Gray scale imaging of a fetal brain showing a monoventricular brain cavity with absence of midline falx, fused thalami, and distorted craniofacial structures, suggestive of alobar holoprosencephaly.


Conclussion: 📋 Sonographic features are highly suggestive of holoprosencephaly, most consistent with the alobar form, a severe and lethal forebrain malformation.
Recommendation: Recommend urgent referral to fetal medicine specialist for detailed neurosonography and genetic counseling. Karyotyping or chromosomal microarray testing is advised to assess for associated anomalies such as trisomy 13.
Note: Associated facial anomalies (e.g., hypotelorism, proboscis) may also be present.

Figer-2

📄 Report Sample Line- Semilobar holoprosencephaly (During First Trimester / NT Screening)
Gray scale imaging ofa fetal brain showing a partial separation of the cerebral hemispheres posteriorly, with a single ventricular cavity anteriorly, partially formed falx cerebri, and incomplete division of the thalami, consistent with semilobar holoprosencephaly.


Conclussion: 📋 Sonographic features are highly suggestive of holoprosencephaly, most consistent with the semilobar a moderate form of forebrain malformation with significant neurodevelopmental implications.
Recommendation: Recommend urgent referral to fetal medicine specialist for detailed neurosonography and genetic counseling. Karyotyping or chromosomal microarray testing is advised to assess for associated anomalies such as trisomy 13.
Note: Subtle midline facial anomalies such as hypotelorism may also be noted.

Figer-3

📄 Report Sample Line- Lobar Holoprosencephaly
Gray scale imaging of a fetal brain showing near-complete separation of cerebral hemispheres, with subtle fusion of the frontal lobes, presence of an interhemispheric fissure and falx cerebri, and a mildly abnormal configuration of the frontal horns, suggestive of lobar holoprosencephaly


Conclussion: 📋 Imaging findings are consistent with lobar holoprosencephaly, the mildest form of forebrain malformation, which may still be associated with neurodevelopmental delay and chromosomal anomalies.
Recommendation: Recommend referral to a fetal medicine specialist for detailed neurosonography and genetic counseling. Fetal MRI and genetic testing (including karyotyping or chromosomal microarray) are advised to evaluate associated anomalies and assist in prognostic assessment. Note: Facial anomalies may be minimal or absent.

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

1. What is holoprosencephaly? 1. होलप्रोसेन्सेफली क्या है?
A. A spectrum of congenital forebrain malformations due to failed or incomplete prosencephalon cleavage
B. Isolated spinal cord defect
C. A type of abdominal wall defect
D. A normal variant

2. Which classification describes the most severe form? 2. किस वर्गीकरण में सबसे गंभीर रूप वर्णित है?
A. Alobar holoprosencephaly (single ventricle, fused thalami)
B. Lobar holoprosencephaly (most severe)
C. Unilateral holoprosencephaly only
D. Exencephaly

3. Typical prenatal ultrasound findings include: 3. सामान्य गर्भकालीन अल्ट्रासाउंड निष्कर्ष कौन से हैं?
A. Single common ventricular cavity, fused thalami, absent midline structures and variable facial anomalies
B. Isolated limb shortening only
C. Only polyhydramnios always
D. Normal ventricles always

4. The chromosomal abnormality most commonly associated with holoprosencephaly is: 4. होलप्रोसेन्सेफली से सबसे अधिक जुड़ी क्रोमोसोमल असामान्यता कौन-सी है?
A. Trisomy 13 (Patau syndrome)
B. Trisomy 21 only
C. Turner syndrome only
D. Trisomy 18 only

5. Facial anomalies often seen with holoprosencephaly include: 5. होलप्रोसेन्सेफली के साथ अक्सर कौन सी चेहरे की असामान्यताएँ देखी जाती हैं?
A. Midline facial defects such as cyclopia, proboscis, hypotelorism, or cleft lip/palate
B. Only ear tags
C. Isolated clubfoot always
D. No facial anomalies ever

6. Which imaging modality best complements ultrasound for detailed brain assessment? 6. मस्तिष्क के विस्तृत आकलन के लिए कौन सी इमेजिंग अल्ट्रासाउंड की पूरक है?
A. Fetal MRI (better defines cortical development, midline structures and associated anomalies)
B. Maternal chest X-ray
C. Fetal bone scan
D. Maternal ECG

7. Prognosis is generally poorest for which form? 7. सबसे खराब पूर्वानुमान सामान्यतः किस रूप के लिए होता है?
A. Alobar holoprosencephaly (severe brain malformation with high mortality)
B. Lobar holoprosencephaly (always best prognosis)
C. Unilateral microgyria only
D. No difference in prognosis between types

8. Key differential diagnosis to consider on prenatal imaging is: 8. गर्भकालीन इमेजिंग पर विचार करने के लिए प्रमुख विभेदक निदान क्या है?
A. Hydranencephaly — distinguished by absent cortical mantle with preserved falx versus holoprosencephaly's midline fusion abnormalities
B. Gastroschisis
C. Clubfoot
D. Omphalocele

9. Appropriate counselling and investigation after diagnosis should include: 9. निदान के बाद उपयुक्त परामर्श और जाँच में क्या शामिल होना चाहिए?
A. Offer fetal karyotype or microarray, fetal MRI, multidisciplinary counselling regarding prognosis and pregnancy options
B. No testing or counselling required
C. Immediate fetal surgery in all cases
D. Only maternal blood pressure monitoring

10. Recurrence risk for holoprosencephaly in future pregnancies: 10. भविष्य की गर्भधारणों में होलप्रोसेन्सेफली का पुनरावृत्ति जोखिम क्या है?
A. Variable — depends on underlying etiology (chromosomal, genetic mutation, environmental); genetic counselling recommended
B. Always zero
C. Always 100%
D. Depends only on maternal diet in third trimester