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Validation of single-gene noninvasive prenatal testing for sickle cell disease.镰状细胞病单基因无创产前检测的验证
Am J Hematol. 2022 Jul;97(7):E270-E273. doi: 10.1002/ajh.26570. Epub 2022 May 2.
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A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders.一种用于单基因常染色体隐性疾病的非侵入性产前诊断方法。
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[Prenatal diagnosis of sickle cell anemia].[镰状细胞贫血的产前诊断]
Tunis Med. 1994 Nov;72(11):601-6.
4
Prenatal diagnosis of sickle cell anemia--1988.
Ann N Y Acad Sci. 1989;565:44-7. doi: 10.1111/j.1749-6632.1989.tb24148.x.
5
Factors affecting the uptake of prenatal diagnosis for sickle cell disease.影响镰状细胞病产前诊断接受率的因素。
J Med Genet. 1992 Nov;29(11):820-3. doi: 10.1136/jmg.29.11.820.
6
[Direct analysis of genes, a new possibility in genetic diagnosis. Application to the prenatal diagnosis of sickle cell anemia].[基因直接分析,基因诊断的一种新可能性。在镰状细胞贫血产前诊断中的应用]
Nouv Presse Med. 1981 Feb 14;10(6):383-5.
7
Sickle cell disease: screening and counselling in the antenatal and neonatal period. Part I.镰状细胞病:产前和新生儿期的筛查与咨询。第一部分。
Midwife Health Visit Community Nurse. 1983 Oct;19(10):402-6.
8
Prenatal diagnosis of sickle cell anemia. Hemoglobin electrophoresis versus DNA analysis.镰状细胞贫血的产前诊断。血红蛋白电泳与DNA分析
Am J Clin Pathol. 1989 Sep;92(3):347-51. doi: 10.1093/ajcp/92.3.347.
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Inconsistency in results of adult haemoglobin genotype and its impact on prenatal diagnosis: lessons from a prenatal diagnosis unit.成人血红蛋白基因型检测结果的不一致性及其对产前诊断的影响:来自一个产前诊断单位的经验教训
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10
Prenatal diagnosis for sickle cell disease. A survey of the United States and Canada.镰状细胞病的产前诊断。美国和加拿大的一项调查。
Ann N Y Acad Sci. 1989;565:48-52. doi: 10.1111/j.1749-6632.1989.tb24149.x.

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1
Sickle cell disease and infertility risks: implications for counseling and care of affected girls and women.镰状细胞病与不孕风险:对受影响女孩和妇女咨询与护理的启示
Expert Rev Hematol. 2024 Aug;17(8):493-504. doi: 10.1080/17474086.2024.2372320. Epub 2024 Jun 26.
2
Update on the practice of premarital screening for sickle cell traits in Africa: a systematic review and meta-analysis.非洲镰状细胞特征婚前筛查实践的最新进展:系统评价和荟萃分析。
BMC Public Health. 2024 May 31;24(1):1467. doi: 10.1186/s12889-024-19001-y.
3
Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States.美国黑人女性对无创性产前检测镰状细胞病进展的看法。
AJOB Empir Bioeth. 2024 Apr-Jun;15(2):154-163. doi: 10.1080/23294515.2024.2302996. Epub 2024 Feb 13.
4
Validation of a non-invasive prenatal test for fetal RhD, C, c, E, K and Fy antigens.验证一种非侵入性的产前胎儿 RhD、C、c、E、K 和 Fy 抗原检测方法。
Sci Rep. 2023 Aug 7;13(1):12786. doi: 10.1038/s41598-023-39283-3.

本文引用的文献

1
It takes two: uptake of carrier screening among male reproductive partners.需要两人共同参与:男性生殖伴侣对携带者筛查的接受程度。
Prenat Diagn. 2020 Feb;40(3):311-316. doi: 10.1002/pd.5588. Epub 2019 Dec 2.
2
A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.一种具有单碱基分辨率的新型高通量分子计数方法可实现精确的单基因 NIPT。
Sci Rep. 2019 Oct 7;9(1):14382. doi: 10.1038/s41598-019-50378-8.
3
The changing landscape of gene editing in hematopoietic stem cells: a step towards Cas9 clinical translation.造血干细胞基因编辑不断变化的格局:迈向Cas9临床转化的一步。
Curr Opin Hematol. 2017 Nov;24(6):481-488. doi: 10.1097/MOH.0000000000000385.
4
Gene Therapy in a Patient with Sickle Cell Disease.基因治疗镰状细胞病患者。
N Engl J Med. 2017 Mar 2;376(9):848-855. doi: 10.1056/NEJMoa1609677.
5
Committee Opinion No. 691: Carrier Screening for Genetic Conditions.第691号委员会意见:遗传性疾病的携带者筛查
Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952.
6
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics.妊娠 11-13 周时母体外周血游离胎儿细胞中胎儿分数:与母亲和胎儿特征的关系。
Ultrasound Obstet Gynecol. 2013 Jan;41(1):26-32. doi: 10.1002/uog.12331. Epub 2012 Dec 4.
7
Granulocyte colony-stimulating factor (G-CSF) administration in individuals with sickle cell disease: time for a moratorium?镰状细胞病患者使用粒细胞集落刺激因子(G-CSF):是时候暂停了吗?
Cytotherapy. 2009;11(4):464-71. doi: 10.1080/14653240902849788.

Validation of single-gene noninvasive prenatal testing for sickle cell disease.

作者信息

Westin Erik R, Tsao David S, Atay Oguzhan, Landry Brian P, Ye Patrick P, Chandler-Brown Devon, Alford Brian, Hoskovec Jennifer, Subramaniam Akila, Pawlik Kevin M, Kuper Spencer G, Goldman Frederick D, Townes Tim M, Sheehan Vivien A

机构信息

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

BillionToOne Inc., Menlo Park, California, USA.

出版信息

Am J Hematol. 2022 Jul;97(7):E270-E273. doi: 10.1002/ajh.26570. Epub 2022 May 2.

DOI:10.1002/ajh.26570
PMID:35429177
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9394186/
Abstract
摘要