Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics DOI

Li‐Chao Zhang,

Xiaofan Yang, Yeqing Jiang

et al.

Prenatal Diagnosis, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 31, 2024

ABSTRACT Background Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy all or part chromosome 21. It characterized significant intellectual disability, distinct facial features, and growth developmental challenges. The utilization metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools screening methods for investigating early pathophysiology trisomy 21 at functional level. Methods Amniotic samples were obtained via amniocentesis from 57 pregnancies with DS 55 control between 17 3/7 24 0/7 weeks gestation. targeted focused on 34 organic acids, amino 5 acylcarnitine metabolites. untargeted analysis concentrated lipid profiles included 602 metabolites that met quality standards. Principal Component Analysis, Orthogonal Partial Least Squares Discriminant Analysis (OPLS‐DA), false discovery rate (FDR) adjustments applied. MetaboAnalystR 5.0 was used perform pathway identified differential Results Fifty metabolites, including L‐glutamine, eight 41 lipids, significantly altered based three criteria: VIP > 1 OPLS‐DA model, FDR‐adjusted p ‐value < 0.05, |log 2 FC| log (1.5) volcano plot detected An 212 selected both approaches (VIP model 0.05), revealed changes nine pathways. Fourteen key establish DS, achieving area under curve 1.00. Conclusions Our results underscore potential identifying concise reliable biomarker combinations demonstrate promising performance DS.

Language: Английский

The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy DOI Creative Commons
Dongmei Wang,

Fangfang Guo,

Yaping Hou

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: Jan. 21, 2025

To evaluate the value of increasing sequencing depths non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on semiconductor platform. This study recruited a cohort 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 December 2020, including 48,018 cases NIPT 11,782 expanded NIPT. Cell-free DNA plasma samples was sequenced at depth 0.15X 0.4X Patients with positive results were offered karyotyping or microarray analysis confirmatory testing, all pregnant women followed up. A total 892 predicted as aneuploidies, 682 210 NIPT, rate 1.42% 1.78% (p = 0.0037), respectively. The predictive values (PPV) trisomy 21/18/13 other autosomal detected by 84.80%, 69.23%, 25.00%, 4.55%, For rates 86.96%, 80.00%, 35.00%, 8.77%, Both have same PPV detecting sex chromosome (approximately 50%). Additionally, one false-negative case identified during follow-up period. 18 confirmed diagnosis due to multiple ultrasound abnormalities pregnancy. shows that can significantly improve performance statistically significant difference, particularly in 18. may provide valuable guidance clinical doctors consultations.

Language: Английский

Citations

0
Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes DOI Creative Commons
Ivonne Bedei,

Johanna Bruder,

Ida Charlotte Bay Lund

et al.

American Journal of Medical Genetics Part C Seminars in Medical Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: March 5, 2025

Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be severe prenatal findings, most often linked to the 45, X karyotype, majority of fetuses have no overt phenotype, resulting in delayed diagnosis and management. The objective this study assess efficacy non-invasive testing by cell-free DNA (cfNIPT) detecting different variants examine phenotypic variations clinical outcomes.Data on pregnancies confirmed or suspected from 2000 2024 were collected specialists fetal ultrasound Germany. In addition, small number Danish cases mosaicism placenta was included. Data regarding cfNIPT results, karyotypes, pregnancy outcomes.Of 114 included, 100 (87.7%) had high-risk result for monosomy X, 53 (46.5%) true positives (TP), 47 (41.2%) false (FP). Fourteen (12.3%) negatives (FN). No differences congenital malformation nuchal translucency seen between TP FN. available 67 cases. Fourty (59.7%) 16 (23.9%) mosaicism, 11 (16.4%) structural variant. higher prevalence increased (ps ≤ 0.001). live birth rate compared 0.03). Postnatal phenotypes mild.cfNIPT represents valuable tool early identification variants, enabling timely intervention targeted However, high false-positive underscores need careful counseling.

Language: Английский

Citations

0
Placental Mosaicism for Autosomal Trisomies: Comprehensive Follow-up of 528 Danish Cases (1983-2021) DOI Creative Commons

Dr Simon H Thomsen,

Dr Ida C B Lund,

Dr Iben Bache

et al.

American Journal of Obstetrics & Gynecology MFM, Journal Year: 2024, Volume and Issue: unknown, P. 101497 - 101497

Published: Sept. 1, 2024

Language: Английский

Citations

2
Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta DOI Creative Commons
Geerke M. Eggenhuizen, Suzanne van Veen,

Nicole van Koetsveld

et al.

Placenta, Journal Year: 2024, Volume and Issue: 154, P. 60 - 65

Published: June 15, 2024

Non-invasive prenatal testing (NIPT) investigates placental DNA and may detect confined mosaicism (CPM). The aim of this study was to confirm CPM in the term placenta cases with abnormal NIPT but normal follow-up cytogenetic studies fetus mother. Additionally we examined distribution cells over placenta.

Language: Английский

Citations

1
Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics DOI

Li‐Chao Zhang,

Xiaofan Yang, Yeqing Jiang

et al.

Prenatal Diagnosis, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 31, 2024

ABSTRACT Background Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy all or part chromosome 21. It characterized significant intellectual disability, distinct facial features, and growth developmental challenges. The utilization metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools screening methods for investigating early pathophysiology trisomy 21 at functional level. Methods Amniotic samples were obtained via amniocentesis from 57 pregnancies with DS 55 control between 17 3/7 24 0/7 weeks gestation. targeted focused on 34 organic acids, amino 5 acylcarnitine metabolites. untargeted analysis concentrated lipid profiles included 602 metabolites that met quality standards. Principal Component Analysis, Orthogonal Partial Least Squares Discriminant Analysis (OPLS‐DA), false discovery rate (FDR) adjustments applied. MetaboAnalystR 5.0 was used perform pathway identified differential Results Fifty metabolites, including L‐glutamine, eight 41 lipids, significantly altered based three criteria: VIP > 1 OPLS‐DA model, FDR‐adjusted p ‐value < 0.05, |log 2 FC| log (1.5) volcano plot detected An 212 selected both approaches (VIP model 0.05), revealed changes nine pathways. Fourteen key establish DS, achieving area under curve 1.00. Conclusions Our results underscore potential identifying concise reliable biomarker combinations demonstrate promising performance DS.

Language: Английский

Citations

0