Hello Doctor,
My wife and I are both 29 years old, healthy, and have no history of smoking, alcohol, or drug use. We are expecting our second child and had a NIPT test that came back negative. At 13 weeks, the NT measurement was 1.4mm, which was within the normal range. However, at our 20-week scan, we received a report showing a short nasal bone, two echogenic foci in the left ventricle, and a transverse femur.
Hello,
Thank you for reaching out to Dr. Galen. Please find the below response to your query.
1. I understand how stressful this situation must be for you. The findings on your 20-week scan—short nasal bone, echogenic foci in the left ventricle, and a transverse femur measurement of 6.7mm—are considered soft markers for trisomy 21. However, your earlier NIPT test was negative, and the NT measurement at 13 weeks was within the normal range, which are both reassuring signs.
2. Soft markers on ultrasound do not always indicate a genetic condition, but given that multiple markers are present, further evaluation is recommended. I strongly suggest following up with a fetomaternal specialist for a detailed scan to assess the findings in more depth. If there are still concerns, an amniocentesis can provide a definitive diagnosis. Your specialist will guide you through the best next steps based on the full clinical picture. Please don’t hesitate to ask any further questions or discuss your concerns.
Thanks
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