Triploidy

KEY FACTS

Terminology

  • Synonym: Partial mole

  • Definition: 69 chromosomes (instead of 46)

    • Most common is diandric triploidy (extra set is paternal)

    • Digynic triploidy if extra set is maternal

Imaging

  • 2 different appearances

    • Diandric triploidy

      • Large cystic placenta

      • Symmetric fetal growth restriction (FGR)

      • Ovaries enlarged with theca lutein cysts

    • Digynic triploidy

      • Normal or small placenta

      • Asymmetric FGR (large head, small body)

  • Multiple other anomalies common

  • Abnormal gestational sac in early 1st trimester

  • Abnormal anatomy at nuchal translucency (NT) screening

Top Differential Diagnoses

  • Twin molar pregnancy: Classic mole + normal fetus

  • Placental hydropic/edema from failed pregnancy

  • Placental mesenchymal dysplasia (can look identical)

    • Cystic placenta, associated with preeclampsia, FGR

Clinical Issues

  • Definitive diagnosis with placental biopsy or amniocentesis

  • Part of gestational trophoblastic disease spectrum

    • Variable hCG levels

      • High hCG associated with theca lutein ovarian cysts

    • Associated preeclampsia and placental abruption

  • Triploidy considered lethal diagnosis

    • Most with intrauterine fetal demise

    • Lethal in neonatal period if live birth

Scanning Tips

  • Look carefully for fetal anomalies when cysts seen in placenta, even at time of NT screening

Ultrasound-guided chorionic villus sampling is performed in this 13-week pregnancy with a thick cystic placenta . The needle tip is seen within the placenta. Noninvasive testing cannot reliably detect triploidy, and placental biopsy is necessary for accurate diagnosis.

Nov 10, 2024 | Posted by in ULTRASONOGRAPHY | Comments Off on Triploidy

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