Search :     
Articles » Aneuploidy » Triploidy

2006-06-07-11 Triploidy © Quintero www.thefetus.net/


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

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

Joint contractures in hands

Single umbilical artery and the hyperechoic placenta

Postnatal images

 


 

Help Support TheFetus.net :