Resorbed co‐twin as an explanation for discrepant chorionic villus results: Non‐mosaic 47,XX, +16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood

Avirachan T. Tharapel*, Sherman Elias, Lee P. Shulman, Linda Seely, Donald S. Emerson, Joe Leigh Simpson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

60 Scopus citations

Abstract

Non‐mosaic trisomy 16 was observed in chorionic villus cytotrophoblasts (direct) as well as cultured mesenchymal core cells derived from the pregnancy of a 38‐year‐old woman. Chromosome preparations from amniotic fluid and neonatal cultures (cord blood) were 46,XX. Normal fetal growth as determined by serial ultrasound examinations occurred throughout the pregnancy, which resulted in a healthy 2724 g female. Multiple biopsies taken from the umbilical cord, placental cotyledons, and fetal membranes were 46,XX. However, a placental nodule and three of six cultures initiated from membranes (amnion and chorion) showed 46,XX/47,XX, + 16 mosaicism. We propose that the trisomy 16 cells arose from residual villi derived from a trisomic cotwin that never developed. This case further demonstrates that normal fetal growth may presage normal outcome irrespective of cytogenetic findings in cytotrophoblasts (direct) and cultured mesenchymal core cells.

Original languageEnglish (US)
Pages (from-to)467-472
Number of pages6
JournalPrenatal Diagnosis
Volume9
Issue number7
DOIs
StatePublished - Jul 1989

Keywords

  • Chorionic villus sampling
  • Prenatal diagnosis
  • Trisomy 16

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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