What is the role of fetal ultrasonography in the diagnosis of Turner syndrome?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

On fetal ultrasonography, Turner syndrome is suggested by the presence of a nuchal cystic hygroma, [7, 8] horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling.

Noninvasive prenatal testing of maternal blood can be used to screen for Turner syndrome with great sensitivity and specificity. [9]


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