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Spectrum analysis of fetal heart

Fenna A R Jansen, Mariette J V Hoffer, Christine L van Velzen, Stephani Klingeman Plati, Marry E B Rijlaarsdam, Sally-Ann B Clur, Nico A Blom, Eva Pajkrt, Shama L Bhola, Alida C Knegt, Marion A de Boer, Monique C Haak
OBJECTIVES: To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. METHODS: Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n = 64). We included cases with additional minor anomalies (n = 39), such as single umbilical artery...
February 2016: Prenatal Diagnosis
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Shion Hayashi, Atsushi Watanabe, Masato Yokozawa, Hiroshi Suzumura, Akihiko Nakahara, Yusuke Nakano, Tatsunori Hokosaki, Ayumi Ohmori, Hirofumi Sawada, Ohsuke Migita, Aya Mima, Pablo Lapunzina, Fernando Santos-Simarro, Sixto García-Miñaúr, Tsutomu Ogata, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Shin-Ichi Inoue, Yoichi Matsubara, Shigeo Kure, Yoko Aoki
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and congenital heart defects. We have recently identified mutations in RIT1 in patients with NS. To delineate the clinical manifestations in RIT1 mutation-positive patients, we further performed a RIT1 analysis in RASopathy patients and identified 7 RIT1 mutations, including two novel mutations, p...
February 2016: Human Genetics
Muriel Doret, Jiří Spilka, Václav Chudáček, Paulo Gonçalves, Patrice Abry
BACKGROUND: The fetal heart rate (FHR) is commonly monitored during labor to detect early fetal acidosis. FHR variability is traditionally investigated using Fourier transform, often with adult predefined frequency band powers and the corresponding LF/HF ratio. However, fetal conditions differ from adults and modify spectrum repartition along frequencies. AIMS: This study questions the arbitrariness definition and relevance of the frequency band splitting procedure, and thus of the calculation of the underlying LF/HF ratio, as efficient tools for characterizing intrapartum FHR variability...
2015: PloS One
J Reinhard, B R Hayes-Gill, S Schiermeier, W Hatzmann, T M Heinrich, H Hüsken-Janßen, E Herrmann, F Louwen
Objective: To investigate the functional adaptive process of the fetal autonomic nervous system during hypnosis from the 20th week of gestation till term. Are there changes in the power spectrum analysis of fetal heart rate when the mother is having a clinical hypnosis or control period? Study Design: Fourty-nine FHR recordings were analysed. Included recordings were from singletons and abdominal fetal ECG-monitored pregnancies. All women were randomised to receive clinical hypnosis followed by a period with no intervention or vice versa...
April 2012: Geburtshilfe und Frauenheilkunde
Massimo W Rivolta, Tamara Stampalija, Daniela Casati, Bryan S Richardson, Michael G Ross, Martin G Frasch, Axel Bauer, Enrico Ferrazzi, Roberto Sassi
BACKGROUND: Fetal heart rate (FHR) variability is an indirect index of fetal autonomic nervous system (ANS) integrity. FHR variability analysis in labor fails to detect early hypoxia and acidemia. Phase-rectified signal averaging (PRSA) is a new method of complex biological signals analysis that is more resistant to non-stationarities, signal loss and artifacts. It quantifies the average cardiac acceleration and deceleration (AC/DC) capacity. OBJECTIVE: The aims of the study were: (1) to investigate AC/DC in ovine fetuses exposed to acute hypoxic-acidemic insult; (2) to explore the relation between AC/DC and acid-base balance; and (3) to evaluate the influence of FHR decelerations and specific PRSA parameters on AC/DC computation...
2014: PloS One
Anne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, Louise Devisme, Laurence Loeuillet, Brigitte Leroy, Alain Martin, Raymonde Bouvier, Annie Laquerriere, Corinne Jeanne-Pasquier, Betty Bessieres-Grattagliano, Charlotte Mechler, Elisabeth Alanio, Camille Leroy, Dominique Gaillard
The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal anomalies. Post mortem examinations were performed after 66 terminations of pregnancy and eight fetal deaths...
November 2014: American Journal of Medical Genetics. Part A
Yu-Ling Kuo, Chih-Ping Chen, Liang-Kai Wang, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Shu-Yuan Chang
OBJECTIVE: To report prenatal diagnosis of 22q11.2 deletion syndrome in a pregnancy with congenital heart defects in the fetus. CASE REPORT: A 26-year-old, primigravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital heart defects. The Level II ultrasound revealed a singleton fetus with heart defects including overriding aorta, small pulmonary artery, and ventricular septal defect. Cordocentesis was performed...
June 2014: Taiwanese Journal of Obstetrics & Gynecology
Erwin Brosens, Mirjam Ploeg, Yolande van Bever, Anna E Koopmans, Hanneke IJsselstijn, Robbert J Rottier, Rene Wijnen, Dick Tibboel, Annelies de Klein
Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and around the world has been relatively stable. EA/TEF is manifested in a broad spectrum of anomalies: in some patients it manifests as an isolated atresia or fistula, but in over half it affects several organ systems. While the associated malformations are often those of the VACTERL spectrum (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal and Limb), many patients are affected by other malformations, such as microcephaly, micrognathia, pyloric stenosis, duodenal atresia, a single umbilical artery, and anomalies of the genitourinary, respiratory and gastrointestinal systems...
August 2014: European Journal of Medical Genetics
B M E Adriaanse, J Schats, C H N Tromp, L B Uittenbogaard, M W Heymans, J M G van Vugt, M C Haak
OBJECTIVES: The objectives of this study were to develop reference values for the distance between the atrioventricular valves, called differential insertion of the atrioventricular valves (DIAVV), in normal fetuses using four-dimensional ultrasound with spatio-temporal image correlation and to explore if DIAVV measurement can differentiate between normal hearts and hearts with cardiac defects. METHODS: The DIAVV was analysed longitudinally following a measurement protocol in 74 fetuses between 15 and 36 weeks gestational age...
October 2014: Prenatal Diagnosis
Xiaoqin Liu, Richard Francis, Andrew J Kim, Ricardo Ramirez, Guozhen Chen, Ramiah Subramanian, Shane Anderton, Youngsil Kim, Liyin Wong, Judy Morgan, Herbert C Pratt, Laura Reinholdt, William Devine, Linda Leatherbury, Kimimasa Tobita, Cecilia W Lo
BACKGROUND: Congenital heart disease (CHD) has a multifactorial pathogenesis, but a genetic contribution is indicated by heritability studies. To investigate the spectrum of CHD with a genetic pathogenesis, we conducted a forward genetic screen in inbred mice using fetal echocardiography to recover mutants with CHD. Mice are ideally suited for these studies given that they have the same four-chamber cardiac anatomy that is the substrate for CHD. METHODS AND RESULTS: Ethylnitrosourea mutagenized mice were ultrasound-interrogated by fetal echocardiography using a clinical ultrasound system, and fetuses suspected to have cardiac abnormalities were further interrogated with an ultrahigh-frequency ultrasound biomicroscopy...
January 2014: Circulation. Cardiovascular Imaging
Miriam E Koome, Laura Bennet, Lindsea C Booth, Joanne O Davidson, Guido Wassink, Alistair Jan Gunn
Power spectral analysis of fetal heart rate variability has been proposed to provide a non-invasive estimate of autonomic balance. However, there are few systematic data before birth. We therefore examined developmental changes in the frequency power spectrum at very low (0-0.04 Hz), low (0.04-0.15 Hz) and high frequencies (0.15-0.4 Hz), as well as the ratio of low- to high-frequency power (LF/HF), in chronically catheterized, healthy fetal sheep at 0.6 (n = 8), 0.7 (n = 7) and 0.8 gestational age (ga; n = 11)...
January 2014: Experimental Physiology
Hiroki Ishii, Takeshi Takami, Tao Fujioka, Norio Mizukaki, Atsushi Kondo, Daisuke Sunohara, Akinori Hoshika, Osamu Akutagawa, Keiichi Isaka
PURPOSE: The aims of the current study were to compare changes in cerebral and systemic perfusion in appropriate-for-gestational-age (AGA) and small-for-gestational-age (SGA) infants immediately after birth. METHODS: Cerebral blood volume (CBV), cerebral Hb oxygen saturation (cSO2) and cerebral fractional tissue oxygen extraction (cFTOE) among 57 AGA infants and 30 SGA infants were monitored using a newly developed time-resolved spectroscopy system during the first 3days of life...
May 2014: Brain & Development
Ann Thuring, K Jonas Brännström, Maria Ewerlöf, Edgar Hernandez-Andrade, David Ley, Göran Lingman, Karina Liuba, Karel Maršál, Tomas Jansson
OBJECTIVE: An experienced sonographer can by listening to the Doppler audio signals perceive various timbres that distinguish different types of umbilical artery flow despite an unchanged pulsatility index (PI). Our aim was to develop an objective measure of the Doppler audio signals recorded from fetoplacental circulation in a sheep model. METHODS: Various degrees of pathological flow velocity waveforms in the umbilical artery, similar to those in human complicated pregnancies, were induced by microsphere embolization of the placental bed (embolization model, 7 lamb fetuses, 370 Doppler recordings) or by fetal hemodilution (anemia model, 4 lamb fetuses, 184 recordings)...
2013: PloS One
Kathrin Ludwig, Roberto Salmaso, Erich Cosmi, Loredana Iaria, Alessandro De Luca, Katia Margiotti, Citton Valentina, Renzo Manara, Massimo Rugge
Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2∶1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation...
November 2012: Pediatric and Developmental Pathology
Sheyla Oliveira Santos, Saulo Makerran Araújo Loureiro, Iura Gonzalez Nogueira Alves, Camila Santos de Jesus, Patrícia Rabelo dos Santos, Márcio Roberto Viana dos Santos, Daniel Penteado Martins Dias, Valter Joviniano Santana-Filho, Daniel Badauê-Passos
Gestational hypothyroidism is a prevalent disorder in pregnant women. We aimed to investigate the impact of experimental gestational hypothyroidism (EGH) on cardiovascular and autonomic nervous systems (ANS) in the offspring of rats. EGH was induced with methimazole (MMI) 0.02% in drinking water from day 9 of gestation until birth. Sixty day old offspring from MMI-treated dams (OMTD, n=13) or water-treated dams (OWTD, n=13) had femoral arteries surgically assessed for the measurements of heart rate (HR), mean (MAP), systolic (SAP) and diastolic arterial pressure (DAP), and spontaneous baroreflex sensitivity (BRS)...
September 25, 2012: Autonomic Neuroscience: Basic & Clinical
Leslie Mertz
If you think your doctor is a mobile phone junkie now, you haven't seen anything yet. A profusion of new software applications, or apps, are either already here or coming soon to convert smart phones into biomedical devices that will play a larger role in healthcare. Engineers, computer programmers, medical professionals, and other researchers are jumping on the bandwagon to create apps and add-on devices, or peripherals, that turn a smart phone into a microscope, an ultrasound machine, or a heart-rate monitor, just to name a few...
March 2012: IEEE Pulse
Carolina Llanos, Deborah M Friedman, Amit Saxena, Peter M Izmirly, Chung-E Tseng, Renata Dische, Rosanna G Abellar, Marc Halushka, Robert M Clancy, Jill P Buyon
OBJECTIVE: The autopsy and clinical information on children dying with anti-SSA/Ro-associated cardiac manifestations of neonatal lupus (cardiac NL) were examined to identify patterns of disease, gain insight into pathogenesis and enhance the search for biomarkers and preventive therapies. METHODS: A retrospective analysis evaluating reports from 18 autopsies of cardiac NL cases and clinical data from the Research Registry for Neonatal Lupus was performed. RESULTS: Of the 18 cases with autopsies, 15 had advanced heart block, including 3 who died in the second trimester, 9 in the third trimester and 3 post-natally...
June 2012: Rheumatology
Esmot Ara Begum, Motoki Bonno, Naoya Sasaki, Yusuke Omori, Kazuyuki Matsuda, Noriko Sugino, Shigeki Tanaka, Hatsumi Yamamoto, Masaru Ido
Infants born with intrauterine growth restriction are at increased risk for adverse cardiovascular outcomes in neonatal and later life. Although circadian rhythm is a prognostic marker of cardiovascular health, the concern over the circadian rhythm of these infants is rarely observed. To determine the influence of intrauterine growth retardation on the pattern of circadian rhythm, heart rate (HR) circadian rhythmicity was analyzed in 39 small for gestational age (SGA; birth weight and height below <-2.0 standard deviation score [SDS]) and 117 appropriate for gestational age (AGA; >-1...
May 2012: American Journal of Perinatology
Mengmeng Wu, Ikhlas A Khan, Asok K Dasmahapatra
Fertilized eggs of Japanese rice fish (medaka) at three developmental stages (Iwamatsu stages 4-30) were exposed to waterborne valproic acid (VPA) (0-80 mM) in hatching solution for 48 h. The amount of valproate to cause 50% mortality (IC(50)) is found to be developmental stage-specific. The embryos were more sensitive to valproate at early stages of development (Iwamatsu stages 4-10) than in the embryos in late stages (Iwamatsu stages 17-30). Valproate exposed embryos have microcephaly and disrupted cardiovasculature with delayed vessel circulation, thrombus formation, and slow heart rate...
April 2012: Comparative Biochemistry and Physiology. Toxicology & Pharmacology: CBP
Edward J Hickey, Christopher A Caldarone, Brian W McCrindle
"Hypoplastic left heart syndrome" is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe "borderline" ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. In this review, we consider factors causing and modifying the abnormal development of the LV. LV hypoplasia is typically seen in association with left ventricular outflow tract obstruction, itself part of a spectrum of related defects with common etiologies...
January 3, 2012: Journal of the American College of Cardiology
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