Conclusions For pregnancies with a FF too low to receive a result on standard NIPT, the FFBR algorithm identified a subset of cases at increased risk for trisomy 13, trisomy 18 or triploidy. For the remainder of cases, the risk of a fetal chromosomal abnormality was unchanged from that ...
Fetal sex determination is useful for families at risk of X-linked disorders, such as Duchenne muscular dystrophy, adrenal hypoplasia, hemophilia. At first... E D’Aversa,G Breveglieri,P Pellegatti,... - 《Molecular Medicine》 被引量: 0发表: 2018年 加载更多来源...
The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy Objective: To determine the relationship between a priori risk for fetal trisomy and the fraction of fetal cell-free DNA (cfDNA) in maternal blood. Methods... H Brar,E Wang,C Struble...
It is known that maternal age is an important risk factor for common aneuploidies, e.g., T21, T18, and T1329. These aneuploidies are mostly of maternal origin and associated with aberrant meiotic recombination25,26,27. However, evidence for the interplay between meiotic crossovers and human an...
In NIPTmer, samples are further analysed by standardizing (z-scoring) the difference of the per-chromosome coverage and the predicted coverage for the same chromosome. The z-score is used as an indicator of aneuploidy risk for a certain chromosome. However, even most conservative k-mer lists ...
NIPT has been used since 2011 to identify pregnancies at high risk for fetal aneuploidy, and several companies offer the tests. Asreported previouslybyMedscape Medical News, the medical community has more recently accepted the value of the test for use in lower-risk population. ...
According to the latest statistics of the European Registration of Congenital Anomalies and Twins (EUROCAT), the risk of having a child with a congenital malformation is 2–3%. Due to better ultrasound equipment and trained examiners, fetal malformations can be detected more frequently and earlier ...
risk of aneuploidies. Panorama has been the subject of more than 40 peer-reviewed publications of over 2 million patients. Panorama has been developed and its performance characteristics determined by Natera, the CLIA-certified laboratory performing the test. The test has not been cleared...
Objectives To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8+0 and 12+6weeks' gestation. Methods In this pilot study, 212 women with high-risk pregnancies were recruited at a single ...
Risk of fetal loss associated with invasive testing following combined first-trimester screening for Down syndrome: a national cohort of 147,987 singleton pregnancies. Ultrasound Obstet Gynecol 2016;47:38–44. Article CAS Google Scholar Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH....