EP07.08: Clinical experience with non-invasive prenatal testing (NIPT) for rare autosomal trisomies
نویسندگان
چکیده
منابع مشابه
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results
To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT res...
متن کاملThe Evolution of Prenatal Diagnosis from Invasive Procedures to Non-invasive Prenatal Testing (NIPT)
Yuval Yaron1,2,*, and Rachel Michaelson-Cohen3,4 1Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2Sackler Faculty of Medicine, Tel Aviv University, Israel 3Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Israel 4Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of...
متن کاملNoninvasive prenatal testing (NIPT) for fetal trisomies in a routinely first-trimester screening
Results Results from chromosome selective sequencing were available from 253 cases of 255 cases. In two cases fetal cell fraction was below the minimal requirement of 4%. In this population of 255 cases we found euploid pregnancies in 250 cases and 5 aneuploid pregnancies: two trisomies 21, one trisomy 18, one triosmy 13 and one 45 XO. In 195 pregnant women, the performance of screening by comb...
متن کاملISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice.
The emergence of effective cell-free fetal DNA-based techniques to screen for trisomy 21 and other aneuploidies has greatly expanded the range of prenatal tests available over the last few years. Non-invasive prenatal testing (NIPT) is rapidly being incorporated into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although NIPT techniques are ...
متن کاملNon-invasive prenatal testing for rare chromosomal anomalies
Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2018
ISSN: 0960-7692
DOI: 10.1002/uog.19885