Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study

Du, Yan; Lin, Jing; Lan, Likun; Dong, Ying; Zhu, Jun; Jiang, Wen Qi; Pan, Xinyao; Lu, Yao-Ping; Li, Da‐Jin; Wang, Ling

doi:10.5582/bst.2018.01044

Cited by 7 publications

(22 citation statements)

References 18 publications

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Section: Discussionmentioning

confidence: 99%

“…With the advancement of non-invasive prenatal testing technology, more and more pregnant women have chosen non-invasive prenatal testing (NIPT) to screen for fetal chromosome abnormalities (23). NIPT has the advantage of high accuracy and noninvasiveness (23). An increasing amount of data has shown that NIPT can be used in medium risk groups as stated by the International Society for Prenatal Diagnosis (24).…”

Section: Discussionmentioning

confidence: 99%

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Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Zhou

Zhang

et al. 2018

BST

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To assess the predictive value of integrating multiple of the median (MOM) with the risk cutoff value for serological screening of Down syndrome. In this retrospective study, women with singleton pregnancies who underwent triple serological screening for Down syndrome were followed, and their screening results and pregnancy outcomes were recorded. The range of MoM value of each indicator was calculated, different protocols integrating various MoM values with the risk cutoff value were compared. A total of 120,269 women with singleton pregnancy were screened and included in the analysis, of those 52 fetuses were confirmed as trisomy-21 by amniocentesis chromosomal karyotyping. Using a risk cutoff value of 1:380, 8,809 samples tested positive and the screen positive rate was 7.32% (8,809/120,269). The normal reference ranges (5-95%) of the MoM value of AFP, β-hCG, and uE3 were 0.60-1.72, 0.43-2.21 and 0.60-1.58, respectively. The detection rate of each screening protocol integrating different MoM percentile values was between 75% and 79%, the positive rate was between 7% and 18%, and the false positive rate was between 7% and 18%. Protocol-6 which combined the screening risk cutoff value and β-hCG MoM ≥ 97.5% percentile is an optimal protocol with a relatively high detection rate (78.8%) and low false positive rate (8.2%). Integrating MoM values of serological indicators can appropriately increase detection rate when interpreting the results of Down syndrome screening.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Zhou

Zhang

et al. 2018

BST

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“…However, interspecific hybrid infertility and cell chromosomes are linked: If the two parents differ greatly in terms of their chromosomal characteristics, meiosis will be blocked such that the hybrid cannot produce normal germ cells and cannot reproduce [25] . Du et al [26] analyzed the somatic chromosome karyotypes of Muscovy duck, Strabian duck, and their interspecific F1 hybrid. Compared with their parents, the F1 hybrids had the same number of chromosomes, but a different number of arms.…”

Section: G-banding Is a Chromosomal Banding Techniquementioning

confidence: 99%

Tavuk, Bıldırcın ve Hibritlerinin Kromozom Karyotipleri ve Bantlanma Modeli Analizi

Zhu¹,

Xie²,

Heng³

et al. 2018

Kafkas Univ Vet Fak Derg

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To explore the incompatibility of hybrids between chickens and quails at the chromosome level, in the present study, chickens, quails, and their hybrids were selected and their chromosome karyotype and banding patterns were analyzed. The methods used comprised pre paring chromosomes from air-dried peripheral blood lymphocytes, the embryo method, G-banding, and C-banding techniques. The result revealed that the number of chromosomes (2n) of chicken, quail, and their hybrids was 78, with 10 pairs of macrochromosomes and 29 pairs of microchromosomes; however, there were some remarkable differences in chromosome morphology. There were significant differences in G-banding patterns between chickens, quails, and their hybrids, among which chickens chromosomes were divided into 32 zones with 155 bands, including 71 positive bands. The quails were divided into 28 zones, with 138 bands, including 61 positive bands. C-band analysis showed that the C-band of chickens, quails, and their hybrids were present on all W-sex chromosomes in all female fission phases and were deeply stained. The combined analysis of the karyotypes and different genotypes of chickens, quails, and their hybrids could provide a reference to accelerate the breeding process.

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“…Xp22.31 microduplication is one of the most frequent findings in clinical cytogenetic analysis [1] , [2] . The frequency varies according to the criteria of sample selection, ranging from 0.04% in multicenter studies based on noninvasive prenatal testing [3] , and 2.4% in patients with mental retardation [4] . In patients with epilepsy, Olson et al [5] found at least one copy number variant on chromosomal microarray in 323 out of 805 studied cases (40%), and 30 of these (9.3%) had Xp22.31 microduplication.…”

Section: Introductionmentioning

confidence: 99%

“…Severity and intensity of the phenotypes are variable; intellectual disability ranges from mild to severe mental retardation, in some patients associated with autism spectrum disorder, speech and reading difficulty, dyslexia, and attention deficit hyperactivity disorder. Also, the epilepsy phenotype varies from neonatal seizures to BECTS, Dravet-like epilepsy, and drug-resistant myoclonic epilepsy [2] , [3] , [4] , [5] , [6] , [7] , [8] . In the present study we analyzed four members of a family in which two children possess Xp22.31 microduplication associated with different forms of epilepsy.…”

Section: Introductionmentioning

confidence: 99%

Epilepsy phenotype in patients with Xp22.31 microduplication

Brinciotti

Fioriello

Mittica

et al. 2019

Epilepsy & Behavior Case Reports

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The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes with dysgraphia and dyscalculia (IQ 72), the sister had juvenile myoclonic epilepsy, and both had bilateral talipes anomalies. The mother, who was the carrier of the microduplication, was asymptomatic. The asymptomatic father did not possess the microduplication. These data contribute to delineate the phenotype associated with Xp22.31 microduplication and suggest a potential pathogenic role for an epilepsy phenotype.

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Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study

Cited by 7 publications

References 18 publications

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Tavuk, Bıldırcın ve Hibritlerinin Kromozom Karyotipleri ve Bantlanma Modeli Analizi

Epilepsy phenotype in patients with Xp22.31 microduplication

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