Turner Syndrome

---

Figure-1

📄 Report Sample Line - Turner Syndrome

The significant cystic hygroma involving the posterior neck and occipital region, with multiloculated septations. There is associated generalized fetal subcutaneous edema and mild ascites, consistent with non-immune hydrops fetalis. Cardiac assessment shows a structurally normal four-chamber view, but possible coarctation of the aorta is suspected based on abnormal arch flow. No other structural anomalies are identified. The placenta appears thickened, and the amniotic fluid volume is normal. Fetal biometry is consistent with gestational age.

The combination of cystic hygroma, hydrops, and suspected cardiac findings is highly suggestive of Turner Syndrome (Monosomy X).

Conclusion: 📋 Ultrasound findings are suggestive of Turner Syndrome with cystic hygroma and evolving non-immune hydrops fetalis.

Recommendation: Recommend immediate referral for fetal echocardiography and genetic counseling. Consider karyotyping via chorionic villus sampling (CVS) or amniocentesis for confirmation. Prognosis is generally poor in cases with early hydrops. Multidisciplinary care planning with a fetal medicine unit is advised.

---

Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. Turner syndrome is classically caused by which karyotype? 1. टर्नर सिंड्रोम पारंपरिक रूप से किस क्यारियोटाइप के कारण होता है?
A. 45,X (complete monosomy X) B. 47,XXY C. 46,XY normal male karyotype D. Trisomy 21

2. Prenatal ultrasound finding most suggestive of Turner syndrome is: 2. प्रसवपूर्व अल्ट्रासाउंड पर कौन‑सा संकेत टर्नर सिंड्रोम का अधिक संकेत देता है?
A. Cystic hygroma / markedly increased nuchal translucency B. Isolated single umbilical artery only C. Normal nuchal translucency D. Polyhydramnios only

3. Common cardiovascular anomaly associated with Turner syndrome is: 3. टर्नर सिंड्रोम से जुड़ी सामान्य हृदय रक्तवाहिनी जटिलता कौन‑सी है?
A. Coarctation of the aorta and bicuspid aortic valve B. Tetralogy of Fallot only C. Transposition of the great arteries only D. Hypoplastic left heart always

4. Postnatal phenotype commonly includes all EXCEPT: 4. जन्म के बाद का फेनोटाइप आम तौर पर निम्न में से किसको छोड़कर शामिल करता है?
A. Short stature B. Streak ovaries and primary amenorrhea C. Tall stature with macroorchidism D. Webbed neck and low hairline

5. Which renal anomaly is more frequently seen in Turner syndrome? 5. टर्नर सिंड्रोम में अधिक बार कौन‑सा गुर्दा संबंधी असमान्यता देखी जाती है?
A. Horseshoe kidney or unilateral renal agenesis B. Polycystic kidney disease always C. Normal kidneys only D. Bilateral multicystic dysplastic kidneys only

6. Best prenatal test to confirm Turner syndrome is: 6. टर्नर सिंड्रोम की पुष्टि के लिए सबसे अच्छा प्रसवपूर्व परीक्षण कौन‑सा है?
A. Fetal karyotype from CVS or amniocentesis (microarray can be adjunct) B. Maternal serum glucose only C. Routine obstetric ultrasound without invasive testing D. Maternal blood pressure measurement only

7. Mosaicism in Turner syndrome (eg 45,X/46,XX) typically results in: 7. टर्नर सिंड्रोम में मोज़ैसिस्म (उदा. 45,X/46,XX) आम तौर पर किस परिणाम के साथ होता है?
A. Milder phenotype and possible spontaneous puberty/fertility in some cases B. Uniformly more severe than complete monosomy C. No clinical variability D. Always lethal in utero

8. Important aspects of long‑term management for women with Turner syndrome include: 8. टर्नर सिंड्रोम वाली महिलाओं के लिए दीर्घकालिक प्रबंधन के महत्वपूर्ण पहलू कौन‑से हैं?
A. Growth hormone therapy for stature, estrogen replacement for puberty/bone health, cardiac and renal surveillance B. Only immediate surgery in infancy C. No follow‑up needed after childhood D. Routine chemotherapy

9. Prenatal counseling points for suspected Turner syndrome should include: 9. संदिग्ध टर्नर सिंड्रोम के लिए प्रसवपूर्व परामर्श में क्या शामिल होना चाहिए?
A. Discuss diagnostic testing, variable phenotype (cardiac/renal/ovarian issues), possible need for neonatal/pediatric follow‑up and reproductive options B. Guarantee of normal outcome without testing C. Immediate recommendation for termination in all cases D. Only discuss maternal diet

10. Which screening or surveillance is essential in adolescents/adults with Turner syndrome? 10. टर्नर सिंड्रोम वाले किशोरों/वयस्कों में कौन‑सा स्क्रीनिंग या निगरानी आवश्यक है?
A. Regular cardiac imaging (echocardiography/MRI for aortic root), blood pressure monitoring, bone density and endocrine follow‑up B. Only dental checkups C. No surveillance required D. Routine brain MRIs annually