4 doctors weighed in:
What are some of the signs and ultrasound findings of down syndrome?
4 doctors weighed in

Dr. Richard Roberts
Clinical Genetics
1 doctor agrees
In brief: Very skilled US
1st trimester: nuchal translucency wider than normal.
Non-Visualization of the nasal bone is sufficient to warrant diagnostic testing. 2nd trimester: most important are cystic hygroma or increased nuchal thickness; dilated ventricles of the brain, absent or small nasal bone, anomalous right subclavian artery. Heart defects, particularly conotruncal, short femur or humerus, duodenal atresia

In brief: Very skilled US
1st trimester: nuchal translucency wider than normal.
Non-Visualization of the nasal bone is sufficient to warrant diagnostic testing. 2nd trimester: most important are cystic hygroma or increased nuchal thickness; dilated ventricles of the brain, absent or small nasal bone, anomalous right subclavian artery. Heart defects, particularly conotruncal, short femur or humerus, duodenal atresia
Dr. Richard Roberts
Dr. Richard Roberts
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1 comment
Dr. Richard Roberts
In ARSA, the right subclavian originates from the aortic arch, so 4 arteries extend from the arch instead of 3.
Marianne DiNapoli
Obstetrics & Gynecology
1 doctor agrees
In brief: Many
The most predictive finding of Down syndrome on prenatal ultrasound is an absent nasal bone.
Others include an enlarged space in the back of the neck, an opening in the abdominal wall, malformations of the heart, and many more. Your doctor can give you a risk of down's (such as 1 in 1, 000) if you have a blood test combined with an early ultrasound.

In brief: Many
The most predictive finding of Down syndrome on prenatal ultrasound is an absent nasal bone.
Others include an enlarged space in the back of the neck, an opening in the abdominal wall, malformations of the heart, and many more. Your doctor can give you a risk of down's (such as 1 in 1, 000) if you have a blood test combined with an early ultrasound.
Marianne DiNapoli
Marianne DiNapoli
Answer assisted by Marianne Di Napoli, Medical Student
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Dr. Jonathan Jassey
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