Article
Genetics & Heredity
Yuefang Liu, Hui Wang, Xin Jin, Qixiang Shao, Qiong Pan
Summary: Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes, leading to multiple system defects and challenges in prenatal diagnosis. This report presents eight new prenatal cases with ciliopathies, showcasing diverse clinical manifestations and novel gene variants.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Yang Yang, Min Wang, Hao Wang
Summary: Whole exome sequencing (WES) is valuable for prenatal diagnosis of skeletal abnormalities. This study recruited five trios with fetal ultrasonic skeletal anomalies and identified genetic variants associated with skeletal abnormalities through WES. Two novel variants were found, expanding the spectrum of variants related to skeletal abnormalities and facilitating the establishment of genotype-phenotype relationship in the prenatal setting. The findings suggest that trio-based WES can assist in prenatal diagnosis and genetic counseling.
MOLECULAR GENETICS AND GENOMICS
(2022)
Article
Pediatrics
Xiaoying Xue, Qiumei Wu, Mingtao Xiong, Wen Ling, Shan Guo, Hong Ma, Biying Huang, Min Liu, Xiuqing Qiu, Zongjie Weng
Summary: This study systematically verified the accuracy of a four-step prenatal ultrasound in diagnosing fetal total anomalous pulmonary venous connection (TAPVC) by conducting prenatal ultrasound on 62 TAPVC fetuses and confirming the diagnosis through postnatal echocardiography, surgery, or postabortion autopsy. The results showed that prenatal ultrasound can comprehensively and systematically evaluate fetal TAPVC, providing important support for prenatal counseling and neonatal assessment. However, the study also found that isolated TAPVC is more prone to be missed in diagnosis.
FRONTIERS IN PEDIATRICS
(2023)
Review
Genetics & Heredity
Alexandra Emms, James Castleman, Stephanie Allen, Denise Williams, Esther Kinning, Mark Kilby
Summary: Congenital malformations diagnosed by ultrasound screening have an underlying genetic cause in many cases. Next generation sequencing as a secondary prenatal genetic test offers additional diagnostic yield for congenital abnormalities potentially associated with genetic causes, especially in cases involving cardiac and neurological anomalies, large nuchal translucency, and non-immune fetal hydrops. The use of exome sequencing has shown significant incremental yield in single-system anomalies, making it a valuable tool for routine clinical care in fetuses with congenital abnormalities.
Article
Genetics & Heredity
Chunge Cao, Fang Liu, Yan Yang, Qing Zhang, Junfang Huang, Xinhong Liu
Summary: This study investigates the value of whole-exome sequencing (WES) in detecting genetic abnormalities for fetuses with isolated first-trimester increased nuchal translucency (NT). The results show a higher diagnostic rate for fetuses with additional structural anomalies when prenatal WES is offered. However, no pathogenic variants were detected in fetuses with increased NT that resolved or remained isolated throughout the pregnancy.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li, Fatao Li, Lina Zhang, Cuixing Yi, Yingsi Li, Yan Lu, Hang Zhou, Ken Cheng, Jian Li, Lina Xiang, Jing Zhang, Sha Tang, Ping Fang, Dongzhi Li, Can Liao
Summary: In this study, prenatal exome sequencing (pES) was performed in 1618 fetal cases with positive ultrasound findings but negative for karyotyping and chromosome microarray analysis. A genotype-driven followed by phenotype-driven three-step approach led to a diagnostic rate of 14.2%, with the highest rates in fetuses with skeletal anomalies and multiple organ involvements. The study demonstrated the significant impact of pES results on clinical decisions in prenatal care.
Article
Obstetrics & Gynecology
Meng Li, Huayu Fu, Jiao Li, Dahua Meng, Qiang Zhang, Dongmei Fei
Summary: In this study, whole-exome sequencing was used for prenatal diagnosis of three fetuses with cerebral ventriculomegaly. Three compound variants associated with congenital hydrocephalus were identified. These findings demonstrate the potential of whole-exome sequencing for accurate prenatal diagnosis of fetal hydrocephalus and highlight the genetic heterogeneity in patients with congenital hydrocephalus.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2022)
Review
Genetics & Heredity
Po Lam So, Ho Ming Luk, Ka Wang Cheung, Winnie Hui, Man Yan Chung, Annisa S. L. Mak, Wing Yi Lok, Kris Pui Tak Yu, Shirley S. W. Cheng, Edgar W. L. Hau, Stephanie Ho, Stephen T. S. Lam, Ivan F. M. Lo
Summary: This study investigated prenatal ultrasound findings in fetuses with KS, showing a variety of non-specific abnormalities. A combination of cases and literature review revealed common ultrasound features in KS fetuses, such as cardiac anomalies, polyhydramnios, genitourinary anomalies, and single umbilical artery.
PRENATAL DIAGNOSIS
(2021)
Article
Genetics & Heredity
Frederic Tran Mau-Them, Julian Delanne, Anne-Sophie Denomme-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sebastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clement Prouteau, Estelle Colin, Agnes Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Melanie Fradin, Alinoe Lavillaureix, Chloe Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Mederic Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frederique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Summary: This study describes the implementation of exome sequencing in prenatal diagnosis in France after the detection of anomalies on prenatal ultrasound. The study found that trio-exome sequencing provided a high diagnostic yield with a median turnaround time of 28 days. Trio-exome sequencing and chromosomal microarray analysis were concordant for identifying pathogenic CNVs.
FRONTIERS IN GENETICS
(2023)
Article
Acoustics
F. Mone, H. Abu Subieh, S. Doyle, S. Hamilton, D. J. McMullan, S. Allen, T. Marton, D. Williams, M. D. Kilby
Summary: The study found that prenatal ES using the NHS England R21 pathway showed great promise in diagnosing genetic abnormalities in over half of preselected cases with fetal structural anomalies on ultrasound. Monitoring and real-time updating of fetal phenotype, as well as reclassification of variants based on postnatal findings, are vital in increasing the clinical impact of this emerging genomic technology.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Medical Laboratory Technology
Qin She, Erfang Tang, Cui Peng, Li Wang, Dandan Wang, Weihe Tan
Summary: Corpus callosum abnormality (CCA) can result in epilepsy, moderate to severe neurologic or mental retardation. The prognosis of CCA is closely linked to genetic factors. This study found that whole exome sequencing (WES) significantly improves the detection rate of genetic etiology of CCA, and for patients with negative results from CNV-seq or CMA, further WES testing is recommended.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Genetics & Heredity
Huling Jiang, Luming Wang, Jianjun Zhu, Zepeng Ping
Summary: This study aimed to identify the susceptibility genes for preeclampsia (PE) by performing whole-exome sequencing on nine families with severe PE. Compound heterozygous variants in the NPFFR2 gene were found to be potentially associated with severe PE. This study provides clinicians and researchers with a better understanding of the molecular mechanisms underlying severe PE in pregnant women.
Article
Acoustics
A. Kucinska-Chahwan, T. Roszkowski, B. Nowakowska, M. Geremek, M. Paczkowska, J. Bijok, D. Massalska
Summary: This study aimed to analyze the genetic causes of skeletal system abnormalities diagnosed by prenatal sonography and establish a diagnostic protocol. The results showed that chromosomal abnormality was the most common genetic diagnosis in fetuses with skeletal abnormalities. Exome sequencing increased the diagnostic yield compared to other genetic testing methods. It is important for fetuses with skeletal abnormalities to undergo extended genetic testing to avoid missing genetic anomalies responsible for skeletal defects.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Genetics & Heredity
LiFen Zhu, DingYa Cao, Min Chen, Huimin Zhang, XiaoFang Sun, WeiQiang Liu
Summary: This study reports the first prenatal diagnosis of Roberts syndrome (RBS) in a Chinese family. The study identified an ESCO2 gene variation associated with RBS and provided detailed phenotypic characteristics for the prenatal diagnosis of RBS caused by this variant.
BMC MEDICAL GENOMICS
(2022)
Article
Oncology
Ning-Yuan Lee, Melissa Hum, Pei-Yi Ong, Matthew Khine Myint, Enya H. W. Ong, Kar-Perng Low, Zheng Li, Boon-Cher Goh, Joshua K. Tay, Kwok-Seng Loh, Melvin L. K. Chua, Soo-Chin Lee, Chiea-Chuen Khor, Ann S. G. Lee
Summary: This study aimed to identify germline genetic variants associated with an increased risk of developing nasopharyngeal carcinoma (NPC). Through sequencing DNA samples from Singaporean NPC patients, the study found 17 pathogenic variants enriched in NPC patients as compared to unaffected controls. Five of these variants were supported by repeated testing on an independent set of Singaporean NPC patients and controls. The study also identified the association between specific genes (JAK2, PRDM16, LRP1B, NIN, and NKX2-1) and NPC risk. Pathway analysis revealed a higher frequency of germline mutations in endocytosis and immune-modulating pathways. Overall, this research provides important insights into the genetic predisposition of NPC.
Review
Obstetrics & Gynecology
Ting Lei, Hong-Ning Xie, Jie-Ling Feng
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2017)
Article
Acoustics
Jie-Ling Feng, Ting Lei, Hong-Ning Xie, Li-Juan Li, Liu Du
JOURNAL OF ULTRASOUND IN MEDICINE
(2017)
Article
Genetics & Heredity
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, Mei-Fang Lin
PRENATAL DIAGNOSIS
(2017)
Review
Acoustics
D. Paladini, A. Pistorio, L. H. Wu, G. Meccariello, T. Lei, G. Tuo, G. Donarini, M. Marasini, H. -N. Xie
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2018)
Article
Genetics & Heredity
Ting Lei, Hong-Ning Xie, Ju Zheng, Jie-Ling Feng, Liu Du, Nan Wang
PRENATAL DIAGNOSIS
(2014)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jie-Ling Feng, Ju Zheng, Ting Lei, Yong-Jian Xu, Hui Pang, Hong-Nino Xie
QUANTITATIVE IMAGING IN MEDICINE AND SURGERY
(2020)
Article
Obstetrics & Gynecology
Erkan Kalafat, Lei Ting, Basky Thilaganathan, Aris T. Papageorghiou, Asma Khalil
Summary: The study aimed to assess the predictive accuracy of mean choroid plexus length to occipitofrontal diameter ratio at 11 to 13 weeks' gestation for detecting open spina bifida. Results showed that this ratio has a high predictive accuracy and diagnostic value, which could help in the early detection of open spina bifida.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Ting Lei, Ju Zheng, Aris T. Papageorghiou, Jie-Ling Feng, Mei-Fang Lin, Fan Zhang, Hong-Ning Xie
Summary: For twin pregnancies, different biological indices can be used to predict large birthweight discordance at different gestational ages, with the best predictors being discordance in biparietal diameter and head circumference in the early second trimester, humerus length discordance in the late second trimester, and estimated fetal weight discordance in the third trimester.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)