Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review.

Abstract

OBJECTIVE:

To present prenatal diagnosis of mosaic trisomy 8 and to review the literature.

MATERIALS, METHODS, AND RESULTS:

A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+8[6]/46,XY[31]. Repeated amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+8[4]/46,XY[77]. Interphase fluorescence in situ hybridization analysis of uncultured amniocytes showed 25% (5/20) mosaicism for trisomy 8. Array comparative genomic hybridization (aCGH) and quantitative fluorescent polymerase chain reaction (QF-PCR) analyses of uncultured amniocytes revealed no genomic imbalance in chromosome 8. The result of QF-PCR excluded uniparental disomy 8. At 23 weeks of gestation, the woman underwent amniocentesis and cordocentesis at other hospitals. Amniocentesis revealed a karyotype of 47,XY,+8[6]/46,XY[10]. Cordocentesis revealed a karyotype of 47,XY,+8[1]/46,XY[29]. Level II ultrasound findings were unremarkable. The parents decided to continue the pregnancy. A 1373-g male baby was prematurely delivered at 29 weeks of gestation. The peripheral blood had a karyotype of 47,XY,+8[1]/46,XY[29]. The infant had normal growth and mental development at 4 months of age.

CONCLUSION:

Fetuses with mosaic trisomy 8 are compatible with viability and can have a favorable outcome. QF-PCR and array comparative genomic hybridization have the limitation of detection of low-level mosaicism. We suggest that in instances of repeated amniocentesis for confirmation of mosaic trisomy 8, follow-up investigations should include interphase fluorescence in situ hybridization studies on uncultured amniocytes, uniparental disomy tests, and detailed ultrasound examinations.

• Authors: Chih-Ping Chen, Ming Chen, Yi-Ju Pan, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Yu-Ting Chen, Wayseen Wang
• Journal: Taiwanese journal of obstetrics & gynecology (Taiwan J Obstet Gynecol) Vol. 50 Issue 3 Pg. 331-8 (Sep 2011) ISSN: 1875-6263 [Electronic] China (Republic : 1949- )
• PMID: 22030049 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2011. Published by Elsevier B.V.

Topics

• Abnormal Karyotype
• Adult
• Amniocentesis
• Chromosomes, Human, Pair 8
• Female
• Humans
• Infant, Newborn
• Infant, Premature
• Male
• Mosaicism
• Pregnancy
• Pregnancy Outcome (genetics)
• Prenatal Diagnosis
• Trisomy (diagnosis)
• Uniparental Disomy (diagnosis)