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)
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 22: Single umbilical artery
