A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China

For data interpretation, we selected 251 genes associated with 59 Mendelian disorders, 164 primary immunodeficiency diseases (PIDs) and five pharmacogenetic (PGx) genes, following the guidelines by the Recommended Uniform Screening Panel (RUSP), the International Union of Immunologic Societies (IUIS...

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Veröffentlicht in:Clinical and translational medicine 2022-06, Vol.12 (6), p.e843-n/a
Hauptverfasser: Jian, Min, Wang, Xiaohong, Sui, Yuanyuan, Fang, Mingyan, Feng, Chenchen, Huang, Yingping, Liu, Chunhua, Guo, Ruidong, Guan, Yuanning, Gao, Yuxiao, Wang, Zhiwei, Li, Shuli, Cheng, Bochen, Sun, Lina, Cui, Fenghua, Guo, Jia, Zhan, Ying, Zhang, Guohong, Zheng, Ling, Su, Fengxia, Xue, Wei, Qian, Puyi, Gao, Shaobo, Chen, Jiayu, Guan, Lingyao, Lu, Haorong, Kristiansen, Karsten, Jin, Xin, Chen, Fang, Zhao, Yuhuan, Hammarström, Lennart, Jiang, Xiaojing, Liu, Junnian, Gao, Ya
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Zusammenfassung:For data interpretation, we selected 251 genes associated with 59 Mendelian disorders, 164 primary immunodeficiency diseases (PIDs) and five pharmacogenetic (PGx) genes, following the guidelines by the Recommended Uniform Screening Panel (RUSP), the International Union of Immunologic Societies (IUIS) Expert Committee for Primary Immunodeficiency, the Dutch Pharmacogenetics Working Group (DPWG), and the Clinical Pharmacogenetics Implementation Consortium (CPIC).3–5 Sequencing protocol, data analysis pipeline, and criteria for sequence variants interpretation following the ACMG/AMP guidelines are described in the Supporting Information. The WGS results were compared with NBS results, including the mandatory checks of hearing impairment and four metabolic diseases, the metabolic testing of 48 inherited metabolic diseases (IMDs), and the genetic screening for 20 hearing loss loci incorporated into the local NBS program in China.6,7 TABLE 1 Summary of the demographic data collected from the 321 newborns of Qingdao cohort Type Number Percentage (%) Pregnancy Natural pregnancy 306 95.4 Assisted reproduction technology 11 3.4 Unspecified 4 1.20 Gestational weeks Pre-term birth 7 2.2 Term birth 314 97.80 Average delivery gestation 39 weeks plus 5 days – Gender of newborn Male 151 47.04 Female 170 52.96 Parental age at delivery Father's age (ave. year) 33 – Mother's age (ave. year) 32 – SD of father's age (year) 5 – SD of mother's age (year) 4 – Mandatory NBS screening of 4 metabolic diseases (PKU, CAH, CH and G6PD) by TRFIA Phe + 1 0.31 Negative 320 99.69 Mandatory hearing impairment screening by OAEs or AABR Not passed 0 0.00 Passed 321 100.00 48 IMDs screening by tandem MS/MS C5-OH + 1 0.31 Phe + 1 0.31 Negative 310 96.57 Unspecified 9 2.80 Genetic hearing loss screening by MALDI-TOF Carrier 18 5.61 Negative 294 91.59 Unspecified 9 2.80 AABR, automated auditory brainstem response; CAH, congenital adrenal hyperplasia; CH, congenital hypothyroidism; CH G6PD, glucose-6-phosphate dehydrogenase; C5-OH+, isovalerylcarnitine positive; MS/MS, mass spectrometry; MALDI-TOF, matrix-assisted laser desorption/ionization time of flight; OAEs, otoacoustic emissions; PKU, phenylketonuria; Phe+, phenylalanine positive; SD, standard deviation; TRFIA, time resolved fluoroimmunoassay. [...]18 carriers harbouring 20 pathogenic mutations causing hearing impairment were detected by genetic hearting loss screening, albeit all 321 children passed the physical hearing screening at hospita
ISSN:2001-1326
2001-1326
DOI:10.1002/ctm2.843