An anomaly scan showed hypoplastic nasal bone in the baby. Is it Down syndrome?

Question

Hi doctor,

I am a 29-year-old pregnant woman and went through an anomaly scan. An anomaly scan showed hypoplastic nasal bone in the baby that might lead to Down syndrome. However, in my third-month NT scan, the baby's nasal bone was seen. Also, in the double marker test, Down syndrome was at low risk only. Not sure why it is like this now. Can you please tell me if the baby can be born with normal delivery, even with hypoplastic nasal bone?

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern. NT (nuchal translucency)scan and double marker are screening tests that only tell if the baby is at high or low risk for Down syndrome. It does not rule it out completely. Hypoplastic nasal bone (not well-developed nasal bone) is only one of the markers for Down syndrome. So if the hypoplastic nasal bone is the only anomaly in the ultrasound, there are chances that the baby may be normal. So kindly send me the NT scan, double marker report, and anomaly scan so that I can better analyze the situation and alleviate your doubts.

Regards.

Answer 2

Hello,

Welcome back to icliniq.com.

I went through your scan report (attachment removed to protect the patient's identity). Your NT scan, double marker, and first-trimester screen are all pointing towards low risk for Down syndrome. Your second-trimester scan shows a hypoplastic nasal bone, which is a marker for Down syndrome. Though there is a high probability of the baby being normal, around 70-75% (since only hypoplastic nasal bone is seen on ultrasound), amniocentesis is the only confirmatory test that can tell with 100% certainty. Do not worry. Stay positive and go ahead with amniocentesis.

Stay safe.