Molecular genetic screening of full-term small for gestational age
Abstract Objective To examine the clinical application of genomic screening in newborns small for gestational age (SGA), hoping to provide an efficient technique for early discovery of neonatal diseases, which is necessary to elevate survival rates and the quality of life in infants. Methods Totally...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04030-0 |
| _version_ | 1797831920247111680 |
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| author | Shuman Zhang Lingna Zhou Lin Zhang Yu Wang Huaiyan Wang |
| author_facet | Shuman Zhang Lingna Zhou Lin Zhang Yu Wang Huaiyan Wang |
| author_sort | Shuman Zhang |
| collection | DOAJ |
| description | Abstract Objective To examine the clinical application of genomic screening in newborns small for gestational age (SGA), hoping to provide an efficient technique for early discovery of neonatal diseases, which is necessary to elevate survival rates and the quality of life in infants. Methods Totally 93 full-term SGA newborns were assessed. Dried blood spot (DBS) samples were obtained at 72 h after birth, and tandem mass spectrometry (TMS) and Angel Care genomic screening (GS, using Targeted next generation sequencing) were carried out. Results All 93 subjects were examined by Angel Care GS and TMS. No children showing inborn errors of metabolism (IEM) were detected by TMS, while 2 pediatric cases (2.15%, 2/93) were confirmed as thyroid dyshormonogenesis 6 (TDH6) by Angel Care GS. Additionally, 45 pediatric cases (48.4%) had one or more variants conferring a carrier status for recessive childhood-onset disorders, with 31 genes and 42 variants associated with 26 diseases. The top three gene-related diseases with carrier status were autosomal recessive deafness (DFNB), abnormal thyroid hormone and Krabbe disease. Conclusions SGA is tightly associated with genetic variation. Molecular Genetic Screening allows early detection of congenital hypothyroidism and may be a potent genomic sequencing technique for screening newborns. |
| first_indexed | 2024-04-09T13:59:28Z |
| format | Article |
| id | doaj.art-f2e02cc1f5654f55acbca3342ca48a74 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-09T13:59:28Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-f2e02cc1f5654f55acbca3342ca48a742023-05-07T11:24:22ZengBMCBMC Pediatrics1471-24312023-05-012311710.1186/s12887-023-04030-0Molecular genetic screening of full-term small for gestational ageShuman Zhang0Lingna Zhou1Lin Zhang2Yu Wang3Huaiyan Wang4Department of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical UniversityDepartment of Medical Genetics, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical UniversityDepartment of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical UniversityDepartment of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical UniversityDepartment of Neonatology, Changzhou Maternity and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical UniversityAbstract Objective To examine the clinical application of genomic screening in newborns small for gestational age (SGA), hoping to provide an efficient technique for early discovery of neonatal diseases, which is necessary to elevate survival rates and the quality of life in infants. Methods Totally 93 full-term SGA newborns were assessed. Dried blood spot (DBS) samples were obtained at 72 h after birth, and tandem mass spectrometry (TMS) and Angel Care genomic screening (GS, using Targeted next generation sequencing) were carried out. Results All 93 subjects were examined by Angel Care GS and TMS. No children showing inborn errors of metabolism (IEM) were detected by TMS, while 2 pediatric cases (2.15%, 2/93) were confirmed as thyroid dyshormonogenesis 6 (TDH6) by Angel Care GS. Additionally, 45 pediatric cases (48.4%) had one or more variants conferring a carrier status for recessive childhood-onset disorders, with 31 genes and 42 variants associated with 26 diseases. The top three gene-related diseases with carrier status were autosomal recessive deafness (DFNB), abnormal thyroid hormone and Krabbe disease. Conclusions SGA is tightly associated with genetic variation. Molecular Genetic Screening allows early detection of congenital hypothyroidism and may be a potent genomic sequencing technique for screening newborns.https://doi.org/10.1186/s12887-023-04030-0Small for gestational ageNewborn screeningTandem mass spectrometryGenomic sequencingNext-generation sequencing |
| spellingShingle | Shuman Zhang Lingna Zhou Lin Zhang Yu Wang Huaiyan Wang Molecular genetic screening of full-term small for gestational age BMC Pediatrics Small for gestational age Newborn screening Tandem mass spectrometry Genomic sequencing Next-generation sequencing |
| title | Molecular genetic screening of full-term small for gestational age |
| title_full | Molecular genetic screening of full-term small for gestational age |
| title_fullStr | Molecular genetic screening of full-term small for gestational age |
| title_full_unstemmed | Molecular genetic screening of full-term small for gestational age |
| title_short | Molecular genetic screening of full-term small for gestational age |
| title_sort | molecular genetic screening of full term small for gestational age |
| topic | Small for gestational age Newborn screening Tandem mass spectrometry Genomic sequencing Next-generation sequencing |
| url | https://doi.org/10.1186/s12887-023-04030-0 |
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