遗传学：产前筛查与诊断的最新进展

Genetics: update on prenatal screening and diagnosis.

作者信息

Evans Mark I, Andriole Stephanie, Evans Shara M

机构信息

Comprehensive Genetics, PLLC and Fetal Medicine Foundation of America, 131 E65th Street, New York, NY 10065, USA; Department of Obstetrics & Gynecology, Mt. Sinai School of Medicine, 131 E65th Street, New York, NY 10065, USA.

Comprehensive Genetics, PLLC and Fetal Medicine Foundation of America, 131 E65th Street, New York, NY 10065, USA.

出版信息

Obstet Gynecol Clin North Am. 2015 Jun;42(2):193-208. doi: 10.1016/j.ogc.2015.01.011.

DOI:10.1016/j.ogc.2015.01.011

PMID:26002161

Abstract

There have been tremendous advances in the ability to screen for the "odds" of having a genetic disorder (both mendelian and chromosomal). With microarray analyses on fetal tissue now showing a minimum risk for any pregnancy being at least 1 in 150 and ultimately greater than 1%, it is thought that all patients, regardless of age, should be offered chorionic villus sampling/amniocentesis and microarray analysis. As sequencing techniques replace other laboratory methods, the only question will be whether these tests are performed on villi, amniotic fluid cells, or maternal blood.

摘要

在筛查患遗传性疾病（孟德尔遗传病和染色体病）“几率”的能力方面已经取得了巨大进展。现在对胎儿组织进行的微阵列分析表明，任何妊娠的最低风险至少为1/150，最终超过1%，因此人们认为，所有患者，无论年龄大小，都应接受绒毛取样/羊膜穿刺术和微阵列分析。随着测序技术取代其他实验室方法，唯一的问题将是这些检测是在绒毛、羊水细胞还是母血上进行。