Triple Marker Screening for Trisomy 21, Trisomy 18 and Open Neural Tube Defects in Singleton Pregnancies of Native Japanese Pregnant Women

Onda, Takekazu; Tanaka, Tadao; Yoshida, Koyo; Nakamura, Yasushi; Kudo, Ryuichi; Yamamoto, Hiroyuki; Sato, Akira; Takai, Yasushi; Uemura, Hiroki; Hoshi, Kazuhiko; Fukada, Yukihito; Miyake, Yoichi; Ohnishi, Masato; Kaneoka, T; Makino, Yasuo; Murata, Yuji; Kanzaki, Toru; Kanzaki, Hideharu; Osaki, Takashi; Aono, Toshihiro; Maeda, Keisuke; Ogita, Sachio; Yamamasu, Seiichi; Asô, Takeshi; Shimizu, Yasufumi; Izutsu, Toshihiko; Kudo, Tomohiko; Okai, Takashi; Sakai, Masato; Hashimoto, Toshirou; Matsuzaki, Noboru; Kitagawa, Michihiro; Sago, Haruhiko; Grier, Robert E.; Myrick, Faye

doi:10.1111/j.1447-0756.2000.tb01355.x

Cited by 11 publications

(8 citation statements)

References 11 publications

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“…The medical condition of T21 can lead to varying degrees of physical and mental malformations that are characterized by low intelligence, stunted physical development, and distinctive facial features . Serological triple screening (including AFP, beta–HCG, and estriol) combined with amniocentesis has become one of the main methods for prenatal diagnosis of chromosome diseases such as Trisomy 21 . Early diagnosis of T21 pregnancies can give both the expecting parents and doctors the benefit of early awareness and preparation for dealing with the difficult situation.…”

Section: Introductionmentioning

confidence: 99%

Study on amniotic fluid metabolism in the second trimester of Trisomy 21

Liu

Quan

et al. 2019

Clinical Laboratory Analysis

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Background Trisomy 21 is a common aneuploid condition in humans and accounts for approximately one quarter of all aneuploid live births. To date, early diagnosis of Trisomy 21 remains a challenging task. Metabolomics may prove an innovative tool to study the early pathophysiology of Trisomy 21 at a functional level. Methods Ultra‐performance liquid chromatography coupled with mass spectrometer (UPLC‐MS) was used for untargeted metabolomic analysis of amniotic fluid samples from women having normal and trisomy 21 fetuses. Results Many significantly changed metabolites were identified between amniotic fluid samples from Trisomy 21 pregnancies and normal euploid pregnancies, such as generally lower levels of several steroid hormones and their derivatives, higher levels of glutathione catabolites coupled with lower levels of gamma‐glutamyl amino acids, and increased levels of phospholipid catabolites, sugars, and dicarboxylic acids. The identification of a human milk oligosaccharide in amniotic fluid may worth further investigation, since confirmation of this observation may have significant implications for regulation of fetal development. Conclusions The metabolisms in amniotic fluid from Trisomy 21 and normal pregnancies are quite different, and some of the significantly changed metabolites may be considered as candidates of early diagnostic biomarkers for Trisomy 21.

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Section: Introductionmentioning

confidence: 99%

Study on amniotic fluid metabolism in the second trimester of Trisomy 21

Liu

Quan

et al. 2019

Clinical Laboratory Analysis

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“…Prior proteomic analysis using MALDI-TOF-MS has identified biomarkers that may be useful in diagnosing fetal chromosomal abnormalities (Kolialexi et al 2011). Only a few studies have used mass spectrometry technology to identify potential markers for NTDs (Onda et al 2000;Fan et al 2011;Shan et al 2012). The present study is the first to use weak cation exchange magnetic beads and MALDI-TOF-MS to screen maternal serum for NTD-specific protein peaks.…”

Section: Discussionmentioning

confidence: 97%

“…NTD is a serious congenital defect and has the highest incidence among all birth defects, accounting for about 20% of the total number of birth defects (Onda et al 2000). In this study, we used weak cation exchange nano-magnetic beads, MALDI-TOF-MS, and decision-tree modeling to identify proteins that may be associated with NTD.…”

Section: Discussionmentioning

confidence: 99%

Identification of Biomarkers by Proteomics for Prenatal Screening for Neural Tube Defects

Shen

et al. 2016

Tohoku J. Exp. Med.

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Neural tube defect (NTD) is a serious congenital defect, but current methods for identifying NTD are limited. We used proteomic analysis of maternal serum to identify NTD-specific proteins whose levels differed between women with NTD fetuses (n = 50) and those with healthy fetuses (n = 40). Three NTD-specific protein peaks (8,130.6, 15,941.7, and 3,960.3 m/z) were identified using MALDI-TOF-mass spectrophotemetry, and were included in a diagnostic model developed using Biomarker Patterns software. The model used cut-offs for the relative intensity of the three peaks to indicate if a case had or did not have NTD. The model identified 48 of the 50 NTD cases and 36 of the 40 control cases correctly, resulting in the sensitivity of 96.0% (48/50) and the specificity of 90.0% (36/40). The diagnostic model was also tested on 105 clinical cases at high risk for NTD, as determined by having high alpha-fetoprotein levels, resulting in the sensitivity of 100% (101/101) and the specificity of 75.0% (3/4). Using the International Protein Index database, we identified proteins with a molecular mass of 8,130.6 Da as ADP-ribosylation factor 1 and a protein similar to cold agglutinin FS-1 antibody light-chain. The 15,941.7-Da peak corresponded to vitamin K3 protein, and the identity of the 3,960.3-Da protein was unclear. Thus, this study developed a diagnostic model consisting of the three peaks which may be indicators of NTD. This new assay may be at least as accurate for diagnosing NTD compared with the commonly used clinical test that assesses alphafetoprotein levels.

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“…As such, the Announcement concern regarding the difficulties that women face in interpreting MSS results is understandable. However, few studies on MSS have been conducted in Japan, with the majority focused on its biochemical features and detection accuracy (Onda et al ., 1998; 2000; 2004; Iinuma et al ., 1999; Miyamura et al ., 1999; Yoshida et al ., 2000; Iinuma & Shimomura, 2001). To date, there have been no studies on how pregnant Japanese women interpret MSS test results.…”

Section: Introductionmentioning

confidence: 99%

The trick of probabilities: Pregnant women's interpretations of maternal serum screening results in Japan

Yoshino

Takahashi

Kai

2008

Nursing & Health Sciences

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This study aimed to explore how pregnant Japanese women interpret maternal serum screening test results presented as probabilities and to consider the possible methods to improve women's understanding of the results. Semi-structured interviews were conducted with 15 women. Data collection and analysis were performed concurrently, based on the grounded theory approach. We showed that the participants interpreted the test results using various criteria, including information from obstetricians, previously experienced risk probabilities, subjective interpretations, and comparisons with other women. The explanations given by health-care professionals affected the participants' interpretation of the probability of risk and their recognition of false-negative results. Therefore, health-care professionals should explain the meaning of the probability test results and confirm how women interpret them.

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Triple Marker Screening for Trisomy 21, Trisomy 18 and Open Neural Tube Defects in Singleton Pregnancies of Native Japanese Pregnant Women

Cited by 11 publications

References 11 publications

Study on amniotic fluid metabolism in the second trimester of Trisomy 21

Study on amniotic fluid metabolism in the second trimester of Trisomy 21

Identification of Biomarkers by Proteomics for Prenatal Screening for Neural Tube Defects

The trick of probabilities: Pregnant women's interpretations of maternal serum screening results in Japan

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