Cell-free DNAtesting in a trisomy 21pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18and 21. Crooks K,Edwardsen G,O’’Connor S,et al. Clin Case Reports . 2016Kristy Crooks, Ginger Edwardsen, Siobhan O'Connor, Cynthia Powell, Diane Vargo, ...
Methods: A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n ...
In South Belgium (Wallonia), the ‘triple test’ was introduced in 1990–1991, and is nowadays a widely accepted screening method for assessment of trisomy 21 risk in pregnancy. The ‘triple test’ is not regulated and can be freely performed by any biomedical lab, making epidemiological data ...
In first-trimester biochemical screening for trisomy 21 it is essential to adjust the measured values of free -hCG and PAPP-A for maternal and pregnancy ch... KO Kagan,D Wright,K Spencer,... - 《Ultrasound Obstet Gynecol》 被引量: 722发表: 2010年 Increased Fetal DNA Concentrations in the...
According to prenatal testing expert, Lee P. Shulman MD, The Feinberg School of Medicine of Northwestern University, Chicago, "The results of this study point more to a continuation in the improvement in the various non-invasive aneuploidy detection technologies that have been studied for the past...
If cardiomegaly was found, chorionic villus sampling (CVS) was offered for α-thalassemia; otherwise the first-trimester combined screening test was performed on the pregnancy. The invasive testing for karyotyping was only followed in those cases with a positive aneuploidy screening test. Results:In...
Its performance in low-risk women is ... Bahcall,Orli G. - 《Nature Reviews Genetics》 被引量: 4发表: 2015年 Cell-free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21 NIPT (noninvasive prenatal testing)...
Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH: Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod. 2008, 23 (9): 1968-1975. 10.1093/humrep/den224. Article CAS...
Trisomy may be detected by genetic testing and various other tests during pregnancy (such as amniocentesis and chorionic villus sampling). Although trisomy often results in miscarriage, full-term pregnancy with live birth is possible. Trisomies generally are categorized as autosomal trisomy (affecting ...
with the well-described association of trisomy 21 and shortening of the long bones in both postnatal studies and prenatal sonographic data from the second trimester of pregnancy1-7. Furthermore, there was no significant association between the degree of femur or humerus shortening and increase in ...