Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Prenatal diagnosis, 1989-07, Vol.9 (7), p.467-472

Ort / Verlag

Chichester, UK: John Wiley & Sons, Ltd

Erscheinungsjahr

1989

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• 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.