Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia
Objective: Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with tri...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-02-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455914002435 |
| _version_ | 1828416938946068480 |
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| author | Chih-Ping Chen Yeou-Lih Wang Schu-Rern Chern Yu-Peng Liu Cheng-Ran Peng Yu-Ling Kuo Peih-Shan Wu Wen-Lin Chen Wayseen Wang |
| author_facet | Chih-Ping Chen Yeou-Lih Wang Schu-Rern Chern Yu-Peng Liu Cheng-Ran Peng Yu-Ling Kuo Peih-Shan Wu Wen-Lin Chen Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH.
Case report: A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872–48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction.
Conclusion: Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia. |
| first_indexed | 2024-12-10T14:11:25Z |
| format | Article |
| id | doaj.art-d3280ee720ff4374b855b633928eddc1 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-10T14:11:25Z |
| publishDate | 2015-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-d3280ee720ff4374b855b633928eddc12022-12-22T01:45:30ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592015-02-01541667010.1016/j.tjog.2014.12.001Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic herniaChih-Ping Chen0Yeou-Lih Wang1Schu-Rern Chern2Yu-Peng Liu3Cheng-Ran Peng4Yu-Ling Kuo5Peih-Shan Wu6Wen-Lin Chen7Wayseen Wang8Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanMackay Medicine, Nursing and Management College, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, TaiwanGene Biodesign Co. Ltd, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanObjective: Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization (aCGH) is useful in pregnancy with abnormal ultrasound findings. The purpose of this report is to report a case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21 diagnosed prenatally by aCGH and to review the literature of chromosomal abnormalities associated with CDH. Case report: A 29-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal CDH. The pregnancy was uneventful until 25 weeks of gestation when level II ultrasound detected isolated right CDH. Ultrasound showed that the liver and gallbladder were located in the right hemithorax, and there was levocardia. Fetal magnetic resonance imaging confirmed the diagnosis of right CDH with the gallbladder and part of the liver appearing in the right hemithorax and the heart shifting to the left hemithorax. Amniocentesis was immediately performed. About 10 mL of amniotic fluid was sent for aCGH analysis by use of the DNA extracted from uncultured amniocytes, and 20 mL of amniotic fluid was sent for conventional cytogenetic analysis. aCGH analysis revealed the result of arr 21p11.2q22.3 (9,962,872–48,129,895) × 3, consistent with the diagnosis of trisomy 21. Conventional cytogenetics revealed a karyotype of 47,XY,+21. Postnatally, polymorphic DNA marker analysis using DNAs extracted from the placenta and parental bloods showed a heterozygous extra chromosome 21 of maternal origin consistent with the result of maternal meiosis I nondisjunction. Conclusion: Prenatal diagnosis of right CDH should raise a suspicion of chromosomal abnormalities especially trisomy 21 and the association of Morgagni hernia.http://www.sciencedirect.com/science/article/pii/S1028455914002435array comparative genomic hybridizationcongenital diaphragmatic herniaDown syndromeprenatal diagnosistrisomy 21 |
| spellingShingle | Chih-Ping Chen Yeou-Lih Wang Schu-Rern Chern Yu-Peng Liu Cheng-Ran Peng Yu-Ling Kuo Peih-Shan Wu Wen-Lin Chen Wayseen Wang Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia Taiwanese Journal of Obstetrics & Gynecology array comparative genomic hybridization congenital diaphragmatic hernia Down syndrome prenatal diagnosis trisomy 21 |
| title | Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| title_full | Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| title_fullStr | Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| title_full_unstemmed | Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| title_short | Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| title_sort | prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia |
| topic | array comparative genomic hybridization congenital diaphragmatic hernia Down syndrome prenatal diagnosis trisomy 21 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455914002435 |
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