Triploidy

Fabrice Cuillier, MD

Article Published: May 8, 2012

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.

5-8

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

Case 2, fig 9

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