keyword
https://read.qxmd.com/read/38497437/predicting-high-risk-fetal-cardiac-disease-anticipated-to-need-immediate-postnatal-stabilization-and-intervention-with-planned-pediatric-cardiac-operating-room-delivery
#1
REVIEW
Amol Moray, Proscovia M Mugaba, Chloe Joynt, Angela McBrien, Luke G Eckersley, Ernest Phillipos, Paula Holinski, Lindsay Ryerson, James Yashu Coe, Sujata Chandra, Billy Wong, Michele Derbyshire, Maria Lefebvre, Mohammed Al Aklabi, Lisa K Hornberger
BACKGROUND: Distances between delivery and cardiac services can make the care of fetuses with cardiac disease at risk of acute cardiorespiratory instability at birth a challenge. In 2013 we implemented a fetal echocardiography-based algorithm targeting fetuses considered high risk for acute cardiorespiratory instability at ≤2 hours of birth for delivery in our pediatric cardiac operating room of our children's hospital, and, herein, examine our experience. METHODS AND RESULTS: We reviewed maternal and postnatal medical records of all fetuses with cardiac disease encountered January 2013 to March 2022 considered high risk for acute cardiorespiratory instability...
March 19, 2024: Journal of the American Heart Association
https://read.qxmd.com/read/38330519/a-liquid-chromatographic-mass-spectrometric-procedure-for-analysis-of-pentaerythrityl-tetranitrate-metabolites-development-validation-and-application-to-ovine-serum-and-human-plasma-samples
#2
JOURNAL ARTICLE
Mariann Städtler, Daniela Wissenbach, Dirk K Wissenbach, Laura Franke, Jana Pastuschek, Ekkehard Schleussner, Beth Allison, Frank T Peters, Tanja Groten
Pentaerythrityl tetranitrate (PETN) is an established drug in the treatment of coronary heart disease and heart failure. It is assumed, that the vasodilative and vasoprotective effects of PETN also have a positive impact on pregnant patients with impaired placental perfusion and studies evaluating the effect of PETN in risk pregnancies have been carried out. In the context of these clinical trials, measuring of serum levels of PETN and its metabolites pentaerythrityl trinitrate (PETriN), pentaerythrityl dinitrate (PEDN), pentaerythrityl mononitrate (PEMN) and pentaerythritol (PE) were required...
January 24, 2024: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://read.qxmd.com/read/38110236/a-novel-nono-nonsense-variant-in-a-fetus-with-renal-abnormalities
#3
Laia Rodriguez-Revenga, Alfons Nadal, Virginia Borobio, Maria Isabel Álvarez-Mora, Irene Madrigal, Montse Pauta, Antoni Borrell
At 16 + 6-weeks a fetal scan performed in the second pregnancy of a 42 y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios. Trio exome sequencing analysis detected a novel pathogenic NONO variant. Postmortem examination after the termination of pregnancy confirmed the ultrasound findings and also revealed pulmonary hypoplasia, retrognathia and low-set ears...
December 18, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/37889432/fetal-heart-rate-spectral-analysis-in-raw-signals-and-prsa-derived-curve-normal-and-pathological-fetuses-discrimination
#4
JOURNAL ARTICLE
Giulio Steyde, Edoardo Spairani, Giovanni Magenes, Maria G Signorini
Cardiotocography (CTG) is the most common technique for electronic fetal monitoring and consists of the simultaneous recording of fetal heart rate (FHR) and uterine contractions. In analogy with the adult case, spectral analysis of the FHR signal can be used to assess the functionality of the autonomic nervous system. To do so, several methods can be employed, each of which has its strengths and limitations. This paper aims at performing a methodological investigation on FHR spectral analysis adopting 4 different spectrum estimators and a novel PRSA-based spectral method...
October 27, 2023: Medical & Biological Engineering & Computing
https://read.qxmd.com/read/37872713/neurodevelopmental-and-other-phenotypes-recurrently-associated-with-heterozygous-baz2b-loss-of-function-variants
#5
JOURNAL ARTICLE
Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle Shillington, Lori White, Houda Zghal Elloumi, Peter R Baker, Shayna Svihovec, Kathleen Brown, Yvonne Koopman-Keemink, Mariette J V Hoffer, Inge M M Lakeman, Elise Brischoux-Boucher, Maria Kinali, Xiaonan Zhao, Seema R Lalani, Daryl A Scott
The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of BAZ2B function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss-of-function BAZ2B variants. However, additional evidence is needed to confirm that these phenotypes are attributable to BAZ2B deficiency...
October 23, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37698306/determinants-of-emergency-delivery-in-pregnancies-complicated-by-placenta-previa-or-placenta-accreta-spectrum-disorders-analysis-of-adopad-cohort
#6
JOURNAL ARTICLE
A Lucidi, N Fratelli, C Maggi, C Cavalli, A Sciarrone, D Buca, A Garofalo, E Viora, P Vergani, S Ornaghi, M Betti, I Vaglio Tessitore, A F Cavaliere, S Buongiorno, A Vidiri, E Fabbri, E Ferrazzi, V Maggi, I Cetin, T Frusca, T Ghi, C Kaihura, E Di Pasquo, T Stampalija, C Belcaro, M Quadrifoglio, M Veneziano, F Mecacci, S Simeone, A Locatelli, S Consonni, N Chianchiano, F Labate, G Calcagno, A Cromi, E Bertucci, F Facchinetti, G A Giuliani, A Fichera, D Granata, F Foti, L Avagliano, G P Bulfamante, A Khalil, M E Flacco, L Manzoli, F Prefumo, G Calì, F D'Antonio
OBJECTIVES: To report the rate and the outcomes of unplanned caesarean delivery (CD) delivery in women with placenta accreta spectrum disorders (PAS) and placenta previa without PAS, and to elucidate the diagnostic accuracy of ultrasound in predicting this outcome. METHODS: Secondary analysis of a multicenter prospective study involving 14 referral hospital in Italy (ADoPAD Study). Inclusion criteria were women with a low-lying placenta (< 20 mm from the internal cervical os) or placenta previa (covering the os), aged ≥ 18 years, who underwent trans-abdominal and transvaginal ultrasound assessment at ≥ 26 + 0 weeks of gestation...
September 12, 2023: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/37273125/a-novel-chd7-variant-in-a-chinese-family-with-charge-syndrome
#7
JOURNAL ARTICLE
Yanhong Shan, LingFang Yao, Linli Li, Xueping Gao, Jinghan Jiang
OBJECTIVE: CHARGE syndrome is a rare autosomal dominant (AD) multi-system disorder with a broad and variable clinical manifestation and occurs in approximately 1/10,000 newborns in the world. Mutations in the CHD7 gene are the genetic cause of over 90% of patients with typical CHARGE syndrome. The present study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. METHODS: Routine prenatal ultrasound screening showed fetal heart abnormality and left foot varus...
June 5, 2023: Genes & Genomics
https://read.qxmd.com/read/37103059/cardiac-fibrosis-and-innervation-state-in-uncorrected-and-corrected-transposition-of-the-great-arteries-a-postmortem-histological-analysis-and-systematic-review
#8
JOURNAL ARTICLE
Leo J Engele, Roel L F van der Palen, Anastasia D Egorova, Margot M Bartelings, Lambertus J Wisse, Claire A Glashan, Philippine Kiès, Hubert W Vliegen, Mark G Hazekamp, Barbara J M Mulder, Marco C De Ruiter, Berto J Bouma, Monique R M Jongbloed
In the transposition of the great arteries (TGA), alterations in hemodynamics and oxygen saturation could result in fibrotic remodeling, but histological studies are scarce. We aimed to investigate fibrosis and innervation state in the full spectrum of TGA and correlate findings to clinical literature. Twenty-two human postmortem TGA hearts, including TGA without surgical correction (n = 8), after Mustard/Senning (n = 6), and arterial switch operation (ASO, n = 8), were studied. In newborn uncorrected TGA specimens (1 day-1...
April 20, 2023: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/37102290/-analysis-of-myrf-gene-variant-in-a-fetus-with-cardiac-urogenital-syndrome
#9
JOURNAL ARTICLE
Hairui Sun, Hongjia Zhang, Yihua He
OBJECTIVE: To explore the genetic basis for a fetus with Cardiac-urogenital syndrome (CUGS). METHODS: A fetus with congenital heart disease identified at the Maternal Fetal Medical Center for Fetal Heart Disease, Beijing Anzhen Hospital Affiliated to Capital Medical University in January 2019 was selected as the study subject. Clinical data of the fetus was collected. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out for the fetus and its parents...
May 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/36930132/association-between-congenital-heart-disease-and-autism-spectrum-disorders-a-protocol-for-a-systematic-review-and-meta-analysis
#10
JOURNAL ARTICLE
Dan Ma, Jing-Lan Huang, Tao Xiong
BACKGROUND: Congenital heart disease (CHD), the most common heart defect in children, refers to congenital disease with abnormal development of the heart or large blood vessels during the fetal period. The researchers suggest that children with CHD show more obvious neurodevelopmental disorders than children with normal development, and children with CHD may have a higher risk of social interaction and communication disorders. This is similar to the characteristics of children with autism spectrum disorder (ASD)...
March 17, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/36923242/detection-of-novel-pathogenic-variants-in-two-families-with-recurrent-fetal-congenital-heart-defects
#11
JOURNAL ARTICLE
Rongqin Cai, Ya Tan, Mingming Wang, Huijun Yu, Jing Wang, Zhuo Ren, Zhe Dong, Yiwen He, Zhi Li, Li Lin, Ying Gu
BACKGROUND: Congenital heart disease (CHD) is the most common birth defect with strong genetic heterogeneity. To date, about 400 genes have been linked to CHD, including cell signaling molecules, transcription factors, and structural proteins that are important for heart development. Genetic analysis of CHD cases is crucial for clinical management and etiological analysis. METHODS: Whole-exome sequencing (WES) was performed to identify the genetic variants in two independent CHD cases with DNA samples from fetuses and their parents, followed by the exclusion of aneuploidy and large copy number variations (CNVs)...
2023: Pharmacogenomics and Personalized Medicine
https://read.qxmd.com/read/36518366/correlation-between-maternal-and-fetal-heart-rate-increases-with-fetal-mouse-age-in-typical-development-and-is-disturbed-in-autism-mouse-model-treated-with-valproic-acid
#12
JOURNAL ARTICLE
Namareq Widatalla, Ahsan Khandoker, Chihiro Yoshida, Kana Nakanishi, Miyabi Fukase, Arisa Suzuki, Masatoshi Saito, Yoshitaka Kimura, Yoshiyuki Kasahara
INTRODUCTION: Autism spectrum disorder (ASD) is considered a significant behavioral problem that is characterized by impairment in social interaction and communication. It is believed that some cases of ASD originate in the intrauterine maternal environment. Therefore, we hypothesized that there might be qualitative changes in the interaction between the mother and fetus in ASD during the prenatal period, hence, we investigated the similarity patterns between maternal and fetal heart rate (HR)...
2022: Frontiers in Psychiatry
https://read.qxmd.com/read/36515170/baseline-heart-rate-in-infants-with-prenatal-alcohol-exposure-a-systematic-review-and-independent-analysis
#13
JOURNAL ARTICLE
Peyton McDonnell, Pia Fornell, Sarah Ponce, Laura Dyer
BACKGROUND: Infants with fetal alcohol syndrome exhibit a range of developmental anomalies, many related to the heart (e.g., decreased heart rate variability). However, the baseline heart rate in this population remains unclear. We hypothesized that the age at which heart rate was measured or the age during exposure to alcohol affects the baseline heart rate. METHODS: First, we conducted a systemic review to determine the published heart rate of infants with prenatal alcohol exposure (PAE)...
December 14, 2022: Birth Defects Research
https://read.qxmd.com/read/36085238/assessing-the-health-impacts-of-transnational-corporations-a-case-study-of-carlton-and-united-breweries-in-australia
#14
JOURNAL ARTICLE
Julia Anaf, Fran Baum, Matt Fisher, Fiona Haigh, Emma Miller, Hailay Gesesew, Nicholas Freudenberg
BACKGROUND: The practices of transnational corporations (TNCs) affect population health through unhealthy products, shaping social determinants of health, or influencing the regulatory structures governing their activities. There has been limited research on community exposures to TNC policies and practices. The aim of this paper was to adapt existing Health Impact Assessment methods that were previously used for both a fast food and an extractives industry corporation in order to assess Carlton and United Breweries (CUB) operations within Australia...
September 9, 2022: Globalization and Health
https://read.qxmd.com/read/36045771/pregnancy-with-heart-disease-in-south-asia-a-systematic-review-and-meta-analysis-of-prevalence-and-outcome
#15
REVIEW
Prezma Shrestha, Sandip Kuikel, Sunita Bajracharya, Anup Ghimire, Roshan Shrestha, Aman Mishra, Puja Bhandari, Shiva Lal Bhattarai, Amit Sharma Nepal
Background: The prevalence and paradigm of antenatal heart disease are contrasting between high-income, industrialized, and low- and middle-income countries. In this systematic review, we report the prevalence of heart disease and its spectrum in pregnant women of South Asia. Methods: We searched through different electronic databases (PubMed, Google-scholar, Embase, Cochrane Library) to locate relevant articles. Studies with sufficient data that met our inclusion criteria were included...
August 2022: Annals of Medicine and Surgery
https://read.qxmd.com/read/35777369/prenatal-diagnosis-associated-findings-and-postnatal-outcome-in-fetuses-with-double-inlet-ventricle-div
#16
JOURNAL ARTICLE
Paul Böckenhoff, Astrid Hellmund, Ingo Gottschalk, Christoph Berg, Ulrike Herberg, Annegret Geipel, Ulrich Gembruch
PURPOSE: To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). METHODS: Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: 33 cases of DIV were correctly diagnosed prenatally...
July 1, 2022: Ultraschall in der Medizin
https://read.qxmd.com/read/35122624/mapping-and-analysis-of-a-spatiotemporal-h3k27ac-and-gene-expression-spectrum-in-pigs
#17
JOURNAL ARTICLE
Yaling Zhu, Zhimin Zhou, Tao Huang, Zhen Zhang, Wanbo Li, Ziqi Ling, Tao Jiang, Jiawen Yang, Siyu Yang, Yanyuan Xiao, Carole Charlier, Michel Georges, Bin Yang, Lusheng Huang
The limited knowledge of genomic noncoding and regulatory regions has restricted our ability to decipher the genetic mechanisms underlying complex traits in pigs. In this study, we characterized the spatiotemporal landscape of putative enhancers and promoters and their target genes by combining H3K27ac-targeted ChIP-Seq and RNA-Seq in fetal (prenatal days 74-75) and adult (postnatal days 132-150) tissues (brain, liver, heart, muscle and small intestine) sampled from Asian aboriginal Bama Xiang and European highly selected Large White pigs of both sexes...
January 27, 2022: Science China. Life Sciences
https://read.qxmd.com/read/34892371/effect-of-valproic-acid-on-maternal-fetal-heart-rates-and-coupling-in-mice-on-embryonic-day-15-5-e15-5
#18
JOURNAL ARTICLE
Namareq Widatalla, Ahsan Khandoker, Chihiro Yoshida, Kana Nakanishi, Miyabi Fukase, Arisa Suzuki, Yoshiyuki Kasahara, Masatoshi Saito, Yoshitaka Kimura
Prenatal uptake of valproic acid (VPA) was associated with increased risk of fetal cardiac anomalies and autism spectrum disorder (ASD), but uptake of VPA is considered the only effective treatment for epilepsy and other neurological disorders. Up until now, little is known about the effect of VPA on maternal - fetal heart rate (HR) coupling patterns; therefore, this study aims at studying such patterns in mice on embryonic day 15.5 (E15.5). At E12.5, 8 mothers were injected with VPA (VPA group) and another 8 mothers were injected with saline (control group)...
November 2021: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://read.qxmd.com/read/34453587/prenatal-diagnosis-associated-findings-and-postnatal-outcome-of-fetuses-with-truncus-arteriosus-communis-tac
#19
JOURNAL ARTICLE
J S Abel, C Berg, A Geipel, U Gembruch, U Herberg, J Breuer, K Brockmeier, I Gottschalk
PURPOSE: To assess the spectrum of associated anomalies, the intrauterine course, postnatal outcome and management of fetuses with truncus arteriosus communis (TAC) METHODS: All cases of TAC diagnosed prenatally over a period of 8 years were retrospectively collected in two tertiary referral centers. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 39 cases of TAC were diagnosed prenatally...
August 28, 2021: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/34408993/systematic-review-of-intrapartum-fetal-heart-rate-spectral-analysis-and-an-application-in-the-detection-of-fetal-acidemia
#20
Luísa Castro, Maria Loureiro, Teresa S Henriques, Inês Nunes
It is fundamental to diagnose fetal acidemia as early as possible, allowing adequate obstetrical interventions to prevent brain damage or perinatal death. The visual analysis of cardiotocography traces has been complemented by computerized methods in order to overcome some of its limitations in the screening of fetal hypoxia/acidemia. Spectral analysis has been proposed by several studies exploring fetal heart rate recordings while referring to a great variety of frequency bands for integrating the power spectrum...
2021: Frontiers in Pediatrics
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