Detection of rare autosomal trisomies through non‐invasive prenatal testing: benefits for pregnancy management
نویسندگان
چکیده
منابع مشابه
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...
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 کاملUnexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. Both cases came to our attention because a fetal anatomy scan at 20 week...
متن کاملNoninvasive prenatal testing in China: Future detection of rare genetic diseases?
Noninvasive prenatal testing (NIPT) provides an innovative method to detect genetic conditions in fetuses using a maternal blood sample, thus avoiding the risk of miscarriage associated with traditional invasive procedures. Since 80% of rare diseases are genetic diseases, NIPT has the potential to detect rare genetic diseases early on and it has been used in many countries and regions. Since Ch...
متن کاملComparison of noninvasive prenatal testing of cell‐free DNA in maternal blood and amniocentesis for evaluation of aneuploidy
Background: The aim of this study was to compare noninvasive prenatal testing (NIPT) of cell‐free DNA in maternal blood and amniocentesis in the diagnosis of aneuploidy. This study was designed to evaluate sensitivity, specificity, accuracy, positive predictive value and negative predictive value of NIPT for detection of aneuploidies compared gold standard test of amniocentesis. Materials and m...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2019
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.20094