Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2019/6753184 |
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| _version_ | 1832551585257881600 |
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| author | Masatake Toshimitsu Shinichi Nagaoka Shuusaku Kobori Maki Ogawa Fumihiko Suzuki Takema Kato Shunsuke Miyai Rie Kawamura Hidehito Inagaki Hiroki Kurahashi Jun Murotsuki |
| author_facet | Masatake Toshimitsu Shinichi Nagaoka Shuusaku Kobori Maki Ogawa Fumihiko Suzuki Takema Kato Shunsuke Miyai Rie Kawamura Hidehito Inagaki Hiroki Kurahashi Jun Murotsuki |
| author_sort | Masatake Toshimitsu |
| collection | DOAJ |
| description | Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized postnatally from typical craniofacial features. However, the influence of chromosome 1p36 deletion on fetal movements remains unknown. Case Report. A 32-week-old fetus with akinesia showed multiple abnormalities, including fetal growth restriction, congenital cardiac defects, and ventriculomegaly. G-banding analysis using cultured amniocytes revealed 46,XY,22pstk+. Postnatal whole exome sequencing and subsequent chromosomal microarray identified a 3 Mb deletion of chromosomal region 1p36.33–p36.32. These results of molecular cytogenetic analyses were consistent with the fetal sonographic findings. Conclusion. Using the exome-first approach, we identified a case with fetal akinesia associated with chromosome 1p36 deletion. Chromosome 1p36 deletion syndrome may be considered for differential diagnosis in cases of fetal akinesia with multiple abnormalities. |
| format | Article |
| id | doaj-art-1155366d64a74e9fa5e60c7dcbef88d8 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-1155366d64a74e9fa5e60c7dcbef88d82025-02-03T06:00:58ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922019-01-01201910.1155/2019/67531846753184Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion SyndromeMasatake Toshimitsu0Shinichi Nagaoka1Shuusaku Kobori2Maki Ogawa3Fumihiko Suzuki4Takema Kato5Shunsuke Miyai6Rie Kawamura7Hidehito Inagaki8Hiroki Kurahashi9Jun Murotsuki10Department of Maternal and Fetal Medicine, Miyagi Children’s Hospital, Miyagi, JapanDepartment of Maternal and Fetal Medicine, Miyagi Children’s Hospital, Miyagi, JapanDepartment of Maternal and Fetal Medicine, Miyagi Children’s Hospital, Miyagi, JapanDepartment of Maternal and Fetal Medicine, Miyagi Children’s Hospital, Miyagi, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDivision of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, JapanDepartment of Maternal and Fetal Medicine, Miyagi Children’s Hospital, Miyagi, JapanBackground. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common subtelomeric terminal deletion syndrome, recognized postnatally from typical craniofacial features. However, the influence of chromosome 1p36 deletion on fetal movements remains unknown. Case Report. A 32-week-old fetus with akinesia showed multiple abnormalities, including fetal growth restriction, congenital cardiac defects, and ventriculomegaly. G-banding analysis using cultured amniocytes revealed 46,XY,22pstk+. Postnatal whole exome sequencing and subsequent chromosomal microarray identified a 3 Mb deletion of chromosomal region 1p36.33–p36.32. These results of molecular cytogenetic analyses were consistent with the fetal sonographic findings. Conclusion. Using the exome-first approach, we identified a case with fetal akinesia associated with chromosome 1p36 deletion. Chromosome 1p36 deletion syndrome may be considered for differential diagnosis in cases of fetal akinesia with multiple abnormalities.http://dx.doi.org/10.1155/2019/6753184 |
| spellingShingle | Masatake Toshimitsu Shinichi Nagaoka Shuusaku Kobori Maki Ogawa Fumihiko Suzuki Takema Kato Shunsuke Miyai Rie Kawamura Hidehito Inagaki Hiroki Kurahashi Jun Murotsuki Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome Case Reports in Obstetrics and Gynecology |
| title | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
| title_full | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
| title_fullStr | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
| title_full_unstemmed | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
| title_short | Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome |
| title_sort | exome first approach in fetal akinesia reveals chromosome 1p36 deletion syndrome |
| url | http://dx.doi.org/10.1155/2019/6753184 |
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