Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays

Soong, Yung-Kuei; Wang, Tzu-Hao; Lee, Yun-Shien; Chen, Chih-Ping; Chang, Chia-Lin; Ho, Szu-Ying; Chao, An-Shine; Cheng, Po-Jen; Chang, Shuenn-Dyh

doi:10.1016/S1028-4559(09)60277-1

« Previous Next »Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 2 , Pages 152-158, June 2009

Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays

Yung-Kuei Soong
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
- Correspondence to: Dr Yung-Kuei Soong, Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, 5, Fu-Hsing Street, Tao-Yuan 333, Taiwan
Tzu-Hao Wang
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
- Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
Yun-Shien Lee
- Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Taiwan
- Department of Biotechnology, Ming-Chuan University, Tao-Yuan, Taiwan
Chih-Ping Chen
- Department of Obstetrics and Gynecology and Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
Chia-Lin Chang
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
Szu-Ying Ho
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
- Department of Obstetrics and Gynecology, Cathay General Hospital, Hsinchu branch, Hsinchu, Taiwan
An-Shine Chao
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
Po-Jen Cheng
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan
Shuenn-Dyh Chang
- Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taiwan

Accepted 10 March 2009.

Summary

Objective

To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques.

Materials and Methods

Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses.

Results

Karyotypes from chorionic villi and amniocytes showed 47, XX, +16 and 46, XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46, XX, and the trisomy 16 karyotype appeared to be confined to the placenta.