What are the prenatal signs 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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Most concepti with a 45,X karyotype spontaneously abort. Most, if not all, of those who survive to birth are suspected to have mosaicism for a normal cell line.

Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. Obtain a karyotype by one of these methods if ultrasonography of a fetus reveals a nuchal cystic hygroma, [7, 8] horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops. A postnatal karyotype may be performed instead of amniocentesis or chorionic villus sampling and is also recommended if the human chorionic gonadotropin (HCG), estradiol, or alpha-fetoprotein (AFP) level is elevated during pregnancy.

Neonatal pedal edema suggests a diagnostic evaluation for Turner syndrome.

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