NIPT 在不同预产年龄孕妇中筛查价值的比较研究李 洋1 ,张梦雅 1 ,马超群 1 ,周宇1 ,王峥2 ,王慧智 2(1.牡丹江医学院;2.牡丹江医学院附属红旗医院妇产科,黑龙江 牡丹江 157011) 摘要: 目的 探讨无创产前基因检测(non-invasiveprenataltesting,NIPT)在不同预产年龄孕妇中的筛查价值。 方法 收集 2020年1 月至...
常见的血清学指标包括甲胎蛋白(alpha-fetoprotein,AFP)、人绒毛促性腺激素(human chorionic gonadotropin,HCG)、妊娠相关血浆蛋白(pregnancy associated plasma protein,PAPP-A)、非结合雌三醇(unconjugated estriol,uE3)、抑制素A(inhibin A)等。 1、AFP AFP是一种胎儿来源的糖蛋白。母体血清中的浓度随着妊娠周数而增加。
当然NIPT发展到现在已经可以筛查拷贝数变异和严重的遗传病(如前面介绍过的NIPT3.0),所以对选择PGT正常的胚胎植入的家属来说,孕中期选择这类更为全面的筛查技术更有意义的感觉,相比三代试管的费用,再花个5k左右的钱做个NIPT3.0降低孩子将来患基因病的风险,大概还是属于可以接受的范围了。 Klimczak AM, Reig A, Ne...
ObjectiveToexploretheclinicalapplicationvalueofnoninvasiveprenataltesting(NIPT)inthescreening ofchro-mosomeabnormality.MethodsFromApril2016toApril2018,atotalof6357casesofsinglepregnantwomenundergoingNIPTinMindong Hospitalwereselected.Theyweredividedintoearly-pregnancygroup,mid-pregnancygroup andlater-pregnancygroup by...
1. Gil MM, Galeva S, Jani J, et al. Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta-analysis. Ultrasound Obstet Gynecol. 2019 Jun;53(6):734-742. doi: 10.1002/uog.20284. Epub 2019 Jun 4. ...
25.Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, Goodnight W et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn. 2013;33:609-11. 26.Russell LM, Strike P, Browne CE, Jacobs PA. X chromosome loss...
NIPT is a screening test; it is not diagnostic. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions. What can NIPT tell me? References American College of Obstetricians and Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No. 226.Obstet...
Hello, I’m looking for anyone’s experiences with NIPT/Harmony testing. I am older at 38 almost 39 and in the early stages of my second pregnancy. I...
arenotexcludedwithNIPT.3-Single-genemutations?=No4-PlacentalMosaicism:i.e.PlacentalT21,WhileNormalFetus!Note:ThisIsAnIssueWithCVS(In1thTrimester)AsWell!5-StillFalse-positiveAndFalse-negativeResults(EvenIfAtVeryLowLevels)TheAmericanCollegeOfMedicalGeneticsGenomics(ACMG)LabeledTheTesting“Non-invasivePrenatal...
BMC Pregnancy Childbirth (2014) 14 :264.10.1186/1471-2393-14-264 [ Cross Ref ]der Wal JT G-v, Verhoeven PS, Manniën J. Factors affecting the uptake of prenatal screening tests for congenital anomalies; a multicentre prospective cohort study. BMC Pregnancy Childbirth. 2014; 14 :264. doi...