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Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum.

Abstract：

OBJECTIVE:We present prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with central nervous system abnormalities. CASE REPORT:A 39-year-old woman was found to have fetal bilateral ventriculomegaly and enlargement of the third ventricle on prenatal ultrasound at 32 weeks of gestation. Fetal magnetic resonance imaging examination confirmed bilateral ventriculomegaly and dysgenesis of the corpus callosum. Amniocentesis was performed subsequently. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniotic cells revealed trisomy 8 mosaicism with a result of arr [GRCh37] (8) × 3[0.19], (X,Y) × 1. Conventional cytogenetic analysis on cultured amniocytes showed that among 108 cells in 12 colonies of three cultures, only one cell was abnormal with trisomy 8, trisomy 9 and monosomy 13, while the rest 107 cells had a normal karyotype. Repeat amniocentesis and cord blood sampling revealed a result of arr 8p23.3q24.3 (191,530-146,280,020) × 2.3 with a log2 ratio of 0.2 compatible with 20-30% mosaicism for trisomy 8 on the uncultured amniocytes, and a result of arr 8p23.3q24.3 (191,530-146,280,020) × 2.1 with a log2 ratio of 0.08 compatible with <10% mosaicism for trisomy 8 on the cord blood lymphocytes. Polymorphic DNA marker analysis excluded uniparental disomy 8. A malformed 2440-g dead fetus was delivered at 34 weeks of gestation with facial dysmorphism. CONCLUSION:Cytogenetic discrepancy can occur between cultured and uncultured amniocytes in mosaic trisomy 8 at amniocentesis. aCGH analysis on uncultured amniocytes is useful for confirmation of mosaic trisomy 8 at amniocentesis. Fetuses with low-level mosaicism for trisomy 8 may prenatally present ventriculomegaly and dysgenesis of the corpus callosum.

journal_name

Taiwan J Obstet Gynecol

journal_title

Taiwanese journal of obstetrics & gynecology

authors

Chen CP,Hsu CY,Chern SR,Wu PS,Chen SW,Wang W

doi

10.1016/j.tjog.2019.11.020

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

127-129

issue

eissn

1028-4559

issn

1875-6263

pii

S1028-4559(19)30287-6

journal_volume

pub_type

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Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum.