Results 11 to 20 of about 81,066 (200)
Arciform eruptions of trisomy 21
Nikam Balkrishna +3 more
doaj +3 more sources
Objective To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with ...
Yiming Chen +6 more
doaj +2 more sources
Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand
This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT)
Preechaya Wongkrajang +6 more
doaj +2 more sources
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 5 by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 and fetal trisomy 21 in a pregnancy.
Chih-Ping Chen +8 more
doaj +1 more source
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome. Case report: A 36-year-
Chih-Ping Chen +6 more
doaj +1 more source
To evaluate the clinical predictive value of serum alpha-fetoprotein variants (AFP-L2, AFP-L3) in combination with maternal serum prenatal screening biomarkers in predicting fetal trisomy 21 and trisomy 18. We analyze the data of singleton pregnant women
Yiming Chen +7 more
doaj +1 more source
Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved
Objective: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. Case report: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks ...
Yao-Lung Chang +6 more
doaj +1 more source
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias +7 more
core +2 more sources
Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA +7 more
core +1 more source
IONA test for first-trimester detection of trisomies 21, 18 and 13 [PDF]
OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA\uae test.
Dumidrascu-Diris, D. +4 more
core +1 more source

