Absent Nasal Bone

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Figer-1

📄 Report Sample Line- Absent nasal bone(During First Trimester / NT Screening)
Nasal bone not visualized in the mid-sagittal view. Considered to absent nosal bone.


Conclussion: 📋 Absent nasal bone is a significant soft marker associated with an increased risk of aneuploidies, particularly Trisomy 21, Trisomy 18, and Trisomy 13
Recommendation: Recommend comprehensive risk assessment including nuchal translucency (NT) measurement, maternal serum screening (PAPP-A, free β-hCG).

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

1. What does 'absent nasal bone' on fetal ultrasound indicate most commonly? 1. भ्रूणीय अल्ट्रासाउंड पर 'नासाल बोन का अभाव' सबसे अधिक क्या सूचित करता है?
A. It is a soft marker that increases risk for chromosomal aneuploidy (eg trisomy 21)
B. Definitive proof of Down syndrome
C. Always indicates facial trauma
D. Maternal nasal bone absent

2. The best ultrasound view to assess the fetal nasal bone is: 2. भ्रूणीय नासाल हड्डी का मूल्यांकन करने के लिए सर्वश्रेष्ठ अल्ट्रासाउंड दृश्‍य कौन सा है?
A. Mid-sagittal profile of the fetal face
B. Transverse abdomen view
C. Coronal placental view
D. Fetal foot view

3. Absent nasal bone is most often reported during which trimester screening? 3. नासाल हड्डी का अभाव किस तिमाही की स्क्रीनिंग के दौरान सबसे अधिक रिपोर्ट किया जाता है?
A. First-trimester/early second-trimester (11–14 weeks or NT scan / 16–22 weeks detailed scan)
B. Only in the third trimester
C. Only postnatally
D. It cannot be seen on ultrasound

4. Which additional screening test is commonly offered when an absent nasal bone is identified? 4. नासाल हड्डी के अभाव की स्थिति में सामान्यतः कौन सा अतिरिक्त स्क्रीनिंग परीक्षण दिया जाता है?
A. Cell-free DNA (cfDNA) non-invasive prenatal testing or offer diagnostic testing (CVS/amniocentesis)
B. Maternal blood glucose only
C. Immediate neonatal surgery
D. Maternal bone scan

5. Ethnic variation matters because absent nasal bone prevalence is: 5. जातीय भिन्नता मायने रखती है क्योंकि नासाल हड्डी के अभाव की प्रचलन क्या है?
A. Higher in some ethnic groups (eg more common in certain populations) and must be interpreted with baseline risks
B. Identical across all ethnicities
C. Only in Europeans
D. Ethnicity is irrelevant

6. Absent nasal bone combined with which marker substantially increases aneuploidy risk? 6. नासाल हड्डी के अभाव के साथ किस संकेत का संयोजन अनेउप्लॉइडी जोखिम को काफी बढ़ा देता है?
A. Increased nuchal translucency (NT) or cardiac/chromosomal soft markers
B. Maternal age alone without other markers
C. Fetal limb lengthening only
D. Presence of an umbilical cord

7. False-positive absent nasal bone can occur due to: 7. नासाल हड्डी के अभाव का झूठा सकारात्मक परिणाम किस कारण हो सकता है?
A. Suboptimal fetal position, inadequate view, maternal habitus or operator error
B. Maternal smoking only
C. Always indicates chromosomal abnormality
D. Fetal gender only

8. Which counselling point is appropriate when absent nasal bone is the only isolated finding? 8. जब नासाल हड्डी का अभाव एकमात्र अलग-थलग खोज हो तो कौन सा परामर्श उपयुक्त है?
A. Explain it is a soft marker; offer further screening (cfDNA) and discuss diagnostic testing options and limitations
B. Insist on immediate termination
C. No follow-up ever
D. Recommend maternal bone supplement

9. Objective measurement sometimes used in the second trimester is: 9. दूसरी तिमाही में कभी-कभी उपयोग की जाने वाली वस्तुनिष्ठ माप क्या है?
A. Nasal bone length measured in a true mid-sagittal view compared with gestational age norms
B. Maternal blood pressure only
C. Fetal femur/abdominal circumference ratio only
D. Placental thickness only

10. If diagnostic testing (eg amniocentesis) is declined, the recommended next step often is: 10. यदि डायग्नोस्टिक परीक्षण (जैसे एमनियोसेंटेसिस) अस्वीकृत किया जाता है, तो अक्सर अगला सुझाया गया कदम क्या होता है?
A. Offer detailed anomaly scan, targeted fetal echocardiography and non-invasive prenatal testing (cfDNA) if not already done
B. No further scans
C. Immediate delivery
D. Maternal surgery