The role of gene detection and single gene genetic detection before embryo implantation in prenatal and postnatal care

doi:10.3877/cma.j.issn.2095-3259.2024.02.011

Chinese Journal of Obstetric Emergency(Electronic Edition) ›› 2024, Vol. 13 ›› Issue (02): 117-120. doi: 10.3877/cma.j.issn.2095-3259.2024.02.011

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The role of gene detection and single gene genetic detection before embryo implantation in prenatal and postnatal care

Renyuan Li, Guining Liang, Xinyang Yu

Received:2023-03-24 Online:2024-05-18 Published:2024-08-01

Abstract

Renyuan Li, Guining Liang, Xinyang Yu. The role of gene detection and single gene genetic detection before embryo implantation in prenatal and postnatal care[J]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2024, 13(02): 117-120.

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References 11

[1]	Menkes JH, Hurst PL, Craig JM. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance[J]. Pediatrics，1954，14(5)：462-467.
[2]	胡秀红，任文波，黄晶．细胞因子与氨基酸代谢关系的研究进展[J].中国免疫学杂志，2022，38(13)：1661-1666.
[3]	Wasim M, Awan FR, Khan HN, et al. Aminoacidopathies: prevalence, etiology, screening, and treatment options[J]. Biochem Genet，2018，56(1-2)：7-21.
[4]	Feng W, Jia J, Guan H, et al. Case report: maple syrup urine disease with a novel DBT gene mutation[J].BMC Pediatr, 2019，19(1)：494.
[5]	娜斯曼·尼加提，刘宪凤，严超英．不同胎龄新生儿枫糖尿病3例[J].中国实用儿科杂志，2018，33(5)：399-400.
[6]	李晓梅. 枫糖尿症患儿临床特征、基因突变分析及诱导型多能干细胞系的建立[D]. 山东：山东大学，2019.
[7]	Morton DH, Strauss KA, Robinson DL, et al. Diagnosis and treatment of maple syrup disease: a study of 36 patients[J]. Pediatrics，2002，109(6)：999-1008.
[8]	国家卫生健康委办公厅. 罕见病诊疗指南(2019年版)[EB/OL].(2019-02-27)[2023-03-24]. URL
[9]	Li Y, Liu X, Duan CF, et al. Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: report of three cases[J]. World J Clin Cases，2021，9(8)：1844-1852.
[10]	Su L, Lu Z, Li F, et al. Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease[J]. Metab Brain Dis，2017，32(3)：765-772.
[11]	Cuturilo G, Menten B, Krstic A, et al. 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome[J]. Eur J Pediatr，2011，170(11)：1465-1470.

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