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2012-05-08-15 Triploidy ©Fabrice Cuillier www.TheFetus.net    

Triploidy
 
Gynécologue, CHR Félix Guyon, 97400 Saint-Denis, Ile de la Réunion, France. 


Case report:
We present three cases of triploidy in which pregnancies were all interrupted. 

Case 1 :  
A healthy 25-year-old primigravida woman was referred at 12 weeks for routine ultrasound. The pregnancy was appropriated for gestation age at 8-week ultrasound. At 12 weeks, we revealed a viable 12-week fetus with visible anomalies: 
  • Biometry not consistent with dates : CRL = 46 mm (NT:0.8 mm), suggesting an early-onset intrauterine growth restriction (Figure 1, 2).
  • Disproportionate fetal body with marked cephalo-abdominal biometry discrepancy: Big head and smaller abdomen (Figure 3)
Figure 1, 2:  Biometry at 12 weeks



Figure 3, 4: Big head and smaller abdomen and the umbilical cord.

 

Firgure 5, 6 ,7 ,8: Superior and inferior extremities seemed to be normal.




A chorionic villous sampling was scheduled at 13 weeks. Chromosomal analysis revealed triploidy (69 XXX). Interruption of pregnancy was performed.  

Case 2 :  
A healthy 40-year-old patient was referred for routine examination at 23 weeks. This was a twin bichorial-biamniotic pregnancy. The first ultrasound revealed two normal nuchal translucency. We observed a normal fetus A, but, the fetus B presented different anomalies: 
  • Severe intra-uterine growth restriction. 
  • Disproportionate fetal body with marked cephalo-abdominal biometric discrepancy: Big head and smaller abdomen (Figure 9).
  • An amniocentesis was performed. The karyotype wax 69 XXX (Fetus B), and 46 XY (fetus A). The triploid fetus was dead at 28 weeks.  
Figure 9: Disproportionate fetal body with marked cephalo-abdominal biometry discrepancy: Big head and smaller abdomen 



Figure 10:
The discrepancy between 2 abdominal circumferences of 2 fetuses

 
 
Case 3 :  A healthy 30-year-old, primigravida was referred for sonography at 12 weeks.  The pregnancy was appropriated for gestation age at 9-week ultrasound. A sonographic examination revealed a viable 12-week fetus with visible anomalies: 
  • Biometry not consistent with dates : CRL = 40 mm, suggesting an early-onset intrauterine growth restriction (Figure 11,12). 
  • Disproportionate fetal body with marked cephalo-abdominal biometry discrepancy : Big head and smaller abdomen (Figure 13,14).   
  • Hygroma coli (Figure 15, 16).  
  • Abnormally wide posterior fossa (Figure 17,18,19).  
  • Atrio-ventricular septal defect(Figure 20, 21). 
  • Single umbilical artery (Figure 22). 
 
A chorionic villous sampling was performed at 13 weeks. Chromosome analysis revealed triploidy (69 XXX). Interruption of pregnancy was performed. 
 
 Figure 11, 12: Biometry at 12 weeks



Figure
 13, 14Disproportionate fetal body with marked cephalo-abdominal biometry discrepancy.



Figure 15, 16Hygroma coli 



Figure
  17, 18, 19:  Abnormally wide posterior fossa 




Figure 20, 21: Atrio-ventricular septal defect



Figure 22:  Single umbilical artery 


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