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https://read.qxmd.com/read/38526221/performance-of-noninvasive-prenatal-screening-for-fetal-sex-chromosome-aneuploidies-in-a-cohort-of-116-862-pregnancies
#1
JOURNAL ARTICLE
Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong
BACKGROUND: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort. RESEARCH DESIGN AND METHODS: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA)...
March 25, 2024: Expert Review of Molecular Diagnostics
https://read.qxmd.com/read/38517166/molecular-autopsy-for-fetal-structural-anomaly-diagnostic-and-clinical-utility-of-multidisciplinary-team-approach
#2
JOURNAL ARTICLE
E Wall, E Petley, F Mone, S Doyle, L Hartles-Spencer, S K Allen, J Castleman, T Marton, D Williams
OBJECTIVES: In the West Midlands Regional Genetic Service, cases of perinatal death with a possible genetic diagnosis are evaluated by the Perinatal Pathology Genetic Multidisciplinary Team (MDT). The MDT assessed autopsy findings and considered genomic assessments. The objective of this retrospective service evaluation was to determine the clinical utility of the MDT. This is the first evaluation since the introduction of whole genome and whole exome sequencing in routine clinical care...
March 22, 2024: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38502454/infection-of-fetal-membranes-with-mycobacterium-tuberculosis-and-tissue-processing-to-isolate-rna-for-expression-analysis
#3
JOURNAL ARTICLE
Samantha Yong-Mendoza, Mónica Selena Fonseca-Pérez, Oscar Villavicencio-Carrisoza, Sandra Rivera-Gutiérrez, Addy Cecilia Helguera-Repetto
This chapter outlines the methodology employed to infect the chorionic and amniotic membranes with Mycobacterium tuberculosis during pregnancy. Particularly, congenital tuberculosis, a rare and serious condition associated with cases in neonates and reactivation of latent tuberculosis in pregnant mothers, is interesting to study. Understanding the mechanisms of infection and the response of fetal membranes is crucial for developing effective treatments in these cases, which will promote better neonatal and maternal health in situations of tuberculosis during pregnancy...
2024: Methods in Molecular Biology
https://read.qxmd.com/read/38497811/enlarged-cavum-septum-pellucidum-and-small-thymus-as-markers-for-22q11-2-deletion-syndrome
#4
JOURNAL ARTICLE
Kimberly B Gaiser, Erica M Schindewolf, Laura J Conway, Beverly G Coleman, Edward R Oliver, Jack R Rychik, Suzanne E Debari, Donna M Mcdonald-Mcginn, Elaine H Zackai, Julie S Moldenhauer, Juliana S Gebb
BACKGROUND: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38494511/chromosomal-microarray-testing-yield-in-829-cases-of-microcephaly-a-clinical-characteristics-based-analysis-for-prenatal-and-postnatal-cases
#5
JOURNAL ARTICLE
Rivka Sukenik-Halevy, Nir Mevorach, Lina Basel-Salmon, Reut Tomashov Matar, Sarit Kahana, Kochav Klein, Ifaat Agmon-Fishman, Michal Levy, Idit Maya
INTRODUCTION: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. MATERIALS AND METHODS: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory...
March 18, 2024: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/38494070/angiogenic-and-vasoactive-proteins-in-the-maternal-fetal-interface-in-healthy-pregnancies-and-preeclampsia
#6
JOURNAL ARTICLE
Ane Cecilie Westerberg, Maren-Helene Langeland Degnes, Ina Jungersen Andresen, Marie Cecilie Paasche Roland, Trond Melbye Michelsen
BACKGROUND: Preeclampsia is characterized by maternal endothelial activation and placental dysfunction. Imbalance in maternal angiogenic and vasoactive factors has been linked to the pathophysiology. The contribution of the placenta as a source to these factors remains unclear. Furthermore, little is known about fetal angiogenic and vasoactive proteins and the relation between maternal and fetal levels. OBJECTIVES: We describe Placental growth factor (PGF), soluble Fms-like tyrosine kinase 1 (sFLT1), soluble Endoglin (sENG), as well as Endothelin 1, 2 and 3 (EDN1, EDN2 and EDN3) in five vessels in healthy pregnancies, early onset (EOPE) and late onset (LOPE) preeclampsia...
March 15, 2024: American Journal of Obstetrics and Gynecology
https://read.qxmd.com/read/38486024/prenatal-genome-wide-sequencing-analysis-exome-or-genome-in-detecting-pathogenic-single-nucleotide-variants-in-fetal-central-nervous-system-anomalies-systematic-review-and-meta-analysis
#7
REVIEW
Enrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, Antonio Pizzuti
Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. A systematic review on antenatal CNS anomalies was performed according to PRISMA guidelines, including n = 12 paper, accounting for 428 fetuses...
March 15, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38466173/clinical-value-of-screening-prenatal-ultrasound-combined-with-chromosomal-microarrays-in-prenatal-diagnosis-of-chromosomal-abnormalities
#8
JOURNAL ARTICLE
Hongru Jiang, Xiangtian Kong, Wenjun Bian, Jiangyue Liu, Yuanyuan Xu, Aimin Cui, Xian Cao
OBJECTIVE: To evaluate the clinical value of ultrasound findings in the screening of fetal chromosomal abnormalities and the analysis of risk factors for chromosome microarray analysis (CMA) abnormalities. METHODS: We retrospectively analyzed the datasets of 15,899 pregnant women who underwent prenatal evaluations at Affiliated Maternity and Child Health Care Hospital of Nantong University between August 2018 and December 2022. Everyone underwent ultrasound screening, and those with abnormal findings underwent CMA to identify chromosomal abnormalities...
December 2024: Journal of Maternal-fetal & Neonatal Medicine
https://read.qxmd.com/read/38453218/severe-skeletal-dysplasia-caused-by-a-novel-flnb-gene-mutation
#9
JOURNAL ARTICLE
Ichchha Madan, Frank Jackson, Simran Sahni, Reinaldo Figueroa
A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management...
March 7, 2024: BMJ Case Reports
https://read.qxmd.com/read/38442716/chromosomal-microarray-analysis-in-fetuses-with-ultrasonographic-soft-markers-a-meta-analysis-of-the-current-evidence
#10
JOURNAL ARTICLE
Uisuk Kim, Young Mi Jung, Sohee Oh, Ji Hye Bae, Jeesun Lee, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Seung Mi Lee
BACKGROUND: Ultrasonographic soft markers are normal variants, rather than fetal abnormalities, and guidelines recommend a detailed survey of fetal anatomy to determine the necessity of antenatal karyotyping. Anecdotal reports have described cases with ultrasonographic soft markers in which chromosomal microarray analysis (CMA) revealed pathogenic copy number variants (CNVs) despite normal results on conventional karyotyping, but CMA for ultrasonographic soft markers remains a matter of debate...
March 4, 2024: Journal of Korean Medical Science
https://read.qxmd.com/read/38440102/novel-characterization-of-cask-variant-c-1963%C3%A2-a-g-p-asn655asp-through-whole-exome-sequencing-in-a-monochorionic-diamniotic-twin-fetus-with-significant-brain-anomalies-a-case-report
#11
Nathan A Keller, Luis A Bracero, Insaf Kouba, Abigail Steinberg, Jolene Muscat, David Bergman
Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying significant cranial abnormalities on prenatal ultrasound and magnetic resonance imaging (MRI) of the brain is presented. Fetal anomalies included bilateral ventriculomegaly, absent cavum septum pellucidum, and absent corpus callosum...
March 2024: Case Reports in Women's Health
https://read.qxmd.com/read/38408955/the-application-of-the-icd-10-for-antepartum-stillbirth-patients-in-a-referral-centre-of-eastern-china-a-retrospective-study-from-2015-to-2022
#12
JOURNAL ARTICLE
Chuan-Shou Feng, Shu-Fen Li, Hui-Hui Ju
BACKGROUND: The causes of some stillbirths are unclear, and additional work must be done to investigate the risk factors for stillbirths. OBJECTIVE: To apply the International Classification of Disease-10 (ICD-10) for antepartum stillbirth at a referral center in eastern China. METHODS: Antepartum stillbirths were grouped according to the cause of death according to the International Classification of Disease-10 (ICD-10) criteria. The main maternal condition at the time of antepartum stillbirth was assigned to each patient...
February 26, 2024: BMC Pregnancy and Childbirth
https://read.qxmd.com/read/38405710/molecular-signatures-of-cortical-expansion-in-the-human-fetal-brain
#13
G Ball, S Oldham, V Kyriakopoulou, L Z J Williams, V Karolis, A Price, J Hutter, M L Seal, A Alexander-Bloch, J V Hajnal, A D Edwards, E C Robinson, J Seidlitz
The third trimester of human gestation is characterised by rapid increases in brain volume and cortical surface area. A growing catalogue of cells in the prenatal brain has revealed remarkable molecular diversity across cortical areas. 1,2 Despite this, little is known about how this translates into the patterns of differential cortical expansion observed in humans during the latter stages of gestation. Here we present a new resource, μBrain, to facilitate knowledge translation between molecular and anatomical descriptions of the prenatal developing brain...
February 13, 2024: bioRxiv
https://read.qxmd.com/read/38404366/attenuated-retinoic-acid-signaling-is-among-the-early-responses-in-mouse-uterus-approaching-embryo-attachment
#14
JOURNAL ARTICLE
Honglu Diao, Shuo Xiao, Tong Zhou, Taylor E Martin, Wendy T Watford, Xiaoqin Ye
The uterus is transiently receptive for embryo implantation. It remains to be understood why the uterus does not reject a semi-allogeneic embryo (to the biological mother) or an allogeneic embryo (to a surrogate) for implantation. To gain insights, we examined uterine early response genes approaching embryo attachment on day 3 post coitum (D3) at 22 hours when blue dye reaction, an indication of embryo attachment, had not manifested in mice. C57BL/6 pseudo-pregnant (control) and pregnant mouse uteri were collected on D3 at 22 hours for microarray analysis...
March 2024: Reproductive and developmental medicine
https://read.qxmd.com/read/38401069/genetic-analysis-of-1p36-deletions-for-six-aborted-fetuses
#15
JOURNAL ARTICLE
Ye Shen, Wei Zhang, Peimin Hua, Fangbo Qian
CONTEXT: Chromosomal abnormalities in embryos are the most common cause of early spontaneous abortions. Chromosome 1p36 deletion syndrome (OMIM 607872) is the most common subtelomeric, terminal microdeletion syndrome. OBJECTIVE: The study intended to analyze miscarriage samples using chromosomal microarray analysis (CMA), to explore the mechanism of chromosomal aberrations, and to identify the recurrence risk and a prenatal diagnostic strategy for couples experiencing spontaneous abortions...
February 9, 2024: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/38383389/prenatal-detection-and-molecular-cytogenetic-characterization-of-xp-deletion-and-xq-duplication-a-case-report-and-literature-review
#16
JOURNAL ARTICLE
Qing Lin, Chunya Liang, Bole Du, Lijiao Li, Hong Li, Xiaolan Mai, Sheng Li, Wenyu Xu, Cunzhen Wu, Mi Zeng
BACKGROUND: Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling. CASE PRESENTATION: A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS)...
February 21, 2024: BMC Medical Genomics
https://read.qxmd.com/read/38369506/polyhydramnios-associated-with-rare-genetic-syndromes-two-case-reports
#17
JOURNAL ARTICLE
C W C Lim, I E Lustestica, W B Poon, W C Tan
BACKGROUND: We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester. CASE PRESENTATION: Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks' gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal...
February 19, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38350492/bioinformatics-analysis-identifies-potential-autophagy-key-genes-and-immune-infiltration-in-preeclampsia
#18
JOURNAL ARTICLE
Lu Sun, Yanhong He, Jie Chen, Xiaofeng Yang, Yuzhen Ding, Meiting Shi, Andong He, Ping Zhang, Zhengrui Huang, Ruiman Li
BACKGROUND: Preeclampsia (PE) is a disease that seriously threatens maternal and fetal health. Appropriate autophagy can shield the placenta from oxidative stress, but its role in PE is unclear. OBJECTIVE: To identify potential autophagy-related genes in PE. METHODS: Microarray datasets from the Gene Expression Omnibus database, compassing the test dataset GSE10588, along with validation datasets GSE4707 and GSE60438 GPL10558, were utilized...
February 13, 2024: Journal of Obstetrics and Gynaecology Research
https://read.qxmd.com/read/38345384/human-induced-pluripotent-stem-cells-are-resistant-to-human-cytomegalovirus-infection-primarily-at-the-attachment-level-due-to-the-reduced-expression-of-cell-surface-heparan-sulfate
#19
JOURNAL ARTICLE
Hideya Kawasaki, Takahiko Hariyama, Isao Kosugi, Shiori Meguro, Futoshi Iwata, Kosuke Shimizu, Yasuhiro Magata, Toshihide Iwashita
Cytomegalovirus (CMV), a type of herpes virus, is the predominant cause of congenital anomalies due to intrauterine infections in humans. Adverse outcomes related to intrauterine infections with human cytomegalovirus (HCMV) vary widely, depending on factors such as fetal infection timing, infection route, and viral virulence. The precise mechanism underlying HCMV susceptibility remains unclear. In this study, we compared the susceptibility of neonatal human dermal fibroblast cells (NHDFCs) and human induced pluripotent stem cells (hiPSCs) derived from NHDFCs, which are genetically identical to HCMV, using immunostaining, microarray, in situ hybridization, quantitative PCR, and scanning electron microscopy...
February 12, 2024: Journal of Virology
https://read.qxmd.com/read/38342853/novel-premature-termination-codon-in-the-foxp3-gene-as-the-cause-of-familial-hydrops-fetalis-in-males
#20
Brighton Goodhue, MaryLou Smith, Kelly Bennett, Matthew Grace
A 19-year-old, G1P0, pregnant person was referred at 20w2d gestation for evaluation due to non-immune hydrops fetalis (NIHF), which was confirmed at the time of evaluation. Amniocentesis was performed at 20 w4d, and FISH, karyotype, chromosomal microarray, and exome sequencing (ES) were ordered. Trio ES identified a novel hemizygous c.142 C > T (p.Arg48*; maternally inherited) variant in the FOXP3 gene, resulting in a premature termination codon and establishing the diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome...
February 11, 2024: Prenatal Diagnosis
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