Article
Obstetrics & Gynecology
Michelle J. Bayefsky, Arthur L. Caplan, Iffath A. Hoskins
Summary: The article highlights the public attention on the commercial availability of noninvasive prenatal screening and the importance of educating patients, as well as advocates for using established public health criteria to evaluate expanded noninvasive prenatal screening.
OBSTETRICS AND GYNECOLOGY
(2022)
Review
Biotechnology & Applied Microbiology
Yanyu Chen, Zhuhao Wu, Joseph Sutlive, Ke Wu, Lu Mao, Jiabao Nie, Xing-Zhong Zhao, Feng Guo, Zi Chen, Qinqin Huang
Summary: Noninvasive prenatal diagnosis (NIPD) is a method of detecting genetic disorders related to the fetus before birth by analyzing markers in the peripheral blood of pregnant women. Fetal-nucleated red blood cells (fNRBCs) can be used as biomarkers for NIPD due to their unique ability to carry the complete genetic information of the fetus. Recent advances in NIPD technologies are focused on isolating and analyzing fNRBCs, using both conventional and novel methods such as micro-/nanomaterials and microfluidic chips. The identification and clinical diagnostic potential of fNRBCs are also discussed, along with the challenges and future directions of using fNRBCs in NIPD treatment guidelines.
JOURNAL OF NANOBIOTECHNOLOGY
(2022)
Review
Pathology
Cechuan Deng, Sau Wai Cheung, Hongqian Liu
Summary: Sex chromosome aneuploidies (SCAs) are common chromosome abnormalities in humans, with manifestations including low fertility and delayed development. Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA is increasingly used for screening. This review evaluated published studies on NIPS for SCAs to facilitate a comprehensive understanding and highlighted the potential of NIPS as a primary screening test for various chromosomal abnormalities.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2021)
Article
Pediatrics
Cechuan Deng, Jianlong Liu, Sha Liu, Hongqian Liu, Ting Bai, Xiaosha Jing, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Qian Zhu, Shanling Liu
Summary: This study aimed to explore the maternal and fetal factors influencing fetal fraction. The results showed that fetal fraction increased with gestational age and decreased with maternal age and BMI. The fetal fraction of fetuses with trisomies 21, 18, and 13 was similar to that of the NIPS-negative group. The z-scores of pregnant women with trisomy 21 and 18 fetuses were positively correlated with fetal fraction.
FRONTIERS IN PEDIATRICS
(2023)
Review
Genetics & Heredity
Pranav Pandya, Brynn Levy, Erik A. Sistermans
Summary: This article is a written summary of an oral debate presented at the 2023 International Society for Prenatal Diagnosis annual conference in Edinburgh. The topic of debate is whether noninvasive prenatal testing (NIPT) should replace other screening strategies for detecting fetal trisomies. While there is agreement that NIPT is more sensitive and has better predictive values for identifying trisomies compared to traditional screening methods, the debate focuses on the potential adverse consequences of abandoning traditional methods. The main disagreement lies in whether ultrasound should be used strictly for measuring nuchal translucency or if it should be combined with fetal anatomy scans.
PRENATAL DIAGNOSIS
(2023)
Review
Biochemistry & Molecular Biology
Carlos D. Ordonez, Modesto Redrejo-Rodriguez
Summary: Just like DNA polymerases (DNAPs) replicate cellular and viral genomes, a few dedicated proteins from natural origins and engineered versions are suitable for amplification of whole genomes and metagenomes (WGA). Different protocols based on various DNAPs have been developed for specific applications. Isothermal WGA using f29 DNA polymerase is widely used due to its high performance, but PCR-based methods are also available. Selection of a suitable enzyme for WGA should consider replication fidelity, processivity, thermostability, coupling replication, double helix unwinding, and maintaining replication opposite to damaged bases. This review provides an overview of the properties of DNAPs used in WGA, discusses their limitations, and suggests future research directions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Obstetrics & Gynecology
Jing-wei Wang, Yong-nan Lyu, Bin Qiao, Yan Li, Yan Zhang, Pavan Kumar Dhanyamraju, Yevgeniya Bamme, Michael D. Yu, Dongqin Yang, Yong-qing Tong
Summary: The study evaluated the performance of NIPT in different clinical indications, demonstrating extremely high sensitivity and specificity for T21 and providing evidence for other abnormal chromosomal karyotypes.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Chemistry, Analytical
Xiaodong Li, Tiantian Wang, Tiantian Xie, Jing Dai, Yibin Zhang, Neng Ling, Junxiao Guo, Chang Li, Xing Sun, Xiaotian Zhang, Ying Peng, Hua Wang, Tianhuan Peng, Mao Ye, Weihong Tan
Summary: The isolation of cfNRBCs from maternal peripheral blood offers a superior strategy for noninvasive prenatal genetic diagnosis. In this study, aptamers specific to NRBCs were developed through clinical sample-based cell-SELEX, enabling the efficient enrichment of cfNRBCs and providing a potential strategy for noninvasive prenatal diagnosis. The results also showed high accuracy in screening for fetal sex and trisomy syndrome through chromosome analysis of enriched cfNRBCs.
ANALYTICAL CHEMISTRY
(2023)
Article
Genetics & Heredity
Xiaosha Jing, Hongqian Liu, Qian Zhu, Sha Liu, Jianlong Liu, Ting Bai, Cechuan Deng, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Lin Chen, Lingping Li, Jiamin Wang
Summary: This study evaluated prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results. The results showed that QF-PCR can quickly and accurately identify common aneuploidies, and when combined with karyotyping and CNV detection techniques, can provide more comprehensive results. In cases of sex chromosome aneuploidy (SCA) or other abnormalities, CMA and CNVseq may increase the detection rate. The addition of fluorescence in situ hybridization assay may help identify true fetal mosaicism.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Ruibin Huang, Hang Zhou, Chunling Ma, Fang Fu, Ken Cheng, You Wang, Ru Li, Tingying Lei, Qiuxia Yu, Dan Wang, Shujuan Yan, Xin Yang, Dongzhi Li, Can Liao
Summary: This retrospective study aimed to investigate the value of whole exome sequencing (WES) for clubfoot (CF) fetuses with or without other structural abnormalities and to further explore the genetic causes of fetal CF. The results showed that WES has a high additional diagnostic yield for the molecular diagnosis of fetal CF, markedly enhancing existing prenatal diagnostic capabilities and expanding our understanding of intrauterine genetic disorders.
Article
Obstetrics & Gynecology
Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stephane Gatot, Bernard Grisart, Sandra Janssens, Nairi Khudashvili, Lore Lannoo, Axel Marichal, Colombine Meunier, Leonor Palmeira, Ilse Parijs, Bruno Pichon, Ellen Roets, Eva Sammels, Guillaume Smits, Marion Suenaert, Yves Sznajer, Kris Van den Bogaert, Leen Vancoillie, Lotte Vandeputte, Elise Vantroys, Joris Robert Vermeesch, Katrien Janssens
Summary: The study evaluated the accuracy and diagnostic value of genome-wide NIPT for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. The results showed high sensitivity and specificity of NIPT in detecting trisomy in dichorionic-diamniotic twin gestations.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
W. Lv, S. Linpeng, Z. Li, D. Liang, Z. Jia, D. Meng, D. S. Cram, H. Zhu, Y. Teng, A. Yin, L. Wu
Summary: The clinical feasibility of noninvasive prenatal diagnosis (NIPD) for beta-thalassaemia using cSMART technology was evaluated in a study involving 102 pregnant Chinese couples. The study demonstrated a high concordance rate of 97% between the cSMART assay and invasive prenatal diagnosis (IPD) results. This suggests that cSMART-based NIPD has potential clinical utility as an alternative to IPD for pregnant couples at high genetic risk for beta-thalassaemia.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Yi Xia, Lin Cheng, Jie Duan, Jianhong Ma, Yuanzhen Zhang
Summary: This study aimed to identify new biomarkers for noninvasive prenatal diagnosis of congenital heart disease (CHD). Through proteomic analysis and bioinformatics, POSTN and PAPPA were identified as candidate biomarkers, and their differential expressions were validated. The combination of POSTN and PAPPA showed high sensitivity and specificity in diagnosing fetal CHD.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
(2023)
Article
Chemistry, Analytical
Pengjun Jiang, Yunjin Bai, Li Yan, Pan Feng, Ke Huang, Jie Chen, Piaopiao Chen
Summary: In this study, a fluorescence strategy was developed for the simultaneous analysis of urine miRNA-375 and miRNA-148a. The target miRNAs triggered cascade enzyme-free amplification using dumbbell-shaped structures. Fluorescent quantum dots and carbon dots were used to selectively recognize and quantify the dual miRNAs. The detection system showed high sensitivity and specificity compared to serum PSA, providing a reliable noninvasive method for the diagnosis of prostate cancer.
ANALYTICAL CHEMISTRY
(2023)
Article
Medical Laboratory Technology
Fredrik Persson, Lawrence Prensky
Summary: The variability in determining fetal fraction compared to gold standard methods shows a standard deviation (SD) in the range of 1.3-3.4% fetal fraction (FF). Studies indicate that measuring FF from fragment size and genomic coordinates or single nucleotide polymorphisms had lower variability with a median SD of about 1.6%, while other studies using different methods displayed significantly higher variability.
CLINICAL CHEMISTRY
(2021)