Triploidy

Juan Carlos Quintero, MD*, Gustavo Vasquez, MD**

* Universidad del Valle  ** Centro Medico Imbanaco Diagnostico Prenatal, Cali, Colombia

This is a 21-year-old primigravida, referred to our unit at 27 weeks due to a discordance between the gestational age and the uterine measurement and poor fetal movements. An arthrogryposis or pterygium syndrome was suspected. In our evaluation the ultrasound findings were:

  • severe growth restriction
  • hypokinetic fetus
  • joint contractures in hands
  • clinodactyly
  • macrocephaly without hydrocephaly
  • single umbilical artery
  • normal bladder
  • Amniotic fluid index in the lower limit for gestational age
  • placenta slightly hyperechogenic.

An aneuploidy was suspected. We recommend a cordocentesis to confirm the diagnosis and the karyotype was 69,XXX. The baby was stillborn at 39 weeks (1350g).

Note the joint contractures

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Note the severe growth restriction (the discordance between the gestational age and the femur length)

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Joint contractures in hands

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Single umbilical artery and the hyperechoic placenta

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Postnatal images

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