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https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#1
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29352600/placental-control-of-metabolic-adaptations-in-the-mother-for-an-optimal-pregnancy-outcome-what-goes-wrong-in-gestational-diabetes
#2
David J Hill
As pregnancy progresses the placental syncytiotrophoblast increasingly assumes control of maternal glucose homeostasis through the release and counter-balancing effects of placental lactogen (PL) and placental variant growth hormone (GH-V). While local actions of these hormones on placental growth and function are likely to exist, each also exerts indirect actions to ensure fetal nutritional availability through modulation of the maternal insulin/insulin-like growth factor axis. Peripheral insulin resistance results from the increasing levels of GH-V in the maternal circulation and is counter-balanced by an increase in insulin availability through an expansion of maternal pancreatic β-cell mass...
January 9, 2018: Placenta
https://www.readbyqxmd.com/read/29352068/maternal-fetal-disposition-and-metabolism-of-retrorsine-in-pregnant-rats
#3
Xia Li, Xiaojing Yang, E Xiang, Jinyuan Luo, Shuaikai Qiu, Yan Fang, Li Zhang, Yu Guo, Jiang Zheng, Hui Wang
Pyrrolizidine alkaloids (PAs) are extensively synthesized by plants and are commonly present in herbs and foodstuffs, which exhibit hepatotoxicity requiring metabolic activation by cytochrome P450 (CYP) 3A to form the electrophilic metabolites-pyrrolic ester. PAs also cause embryo toxicity, but the metabolic profiles of PAs in fetus and placenta have been far from clear. In this study, we determined the basal metabolic activation of retrorsine (RTS) in rat maternal liver, placenta and fetal liver in vitro, and examined the fetal toxicity and bioactivation of RTS in vivo...
January 19, 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/29351431/feasibility-of-phase-contrast-cine-magnetic-resonance-imaging-for-measuring-blood-flow-in-the-sheep-fetus
#4
An Qi Duan, Jack R T Darby, Jia Yin Soo, Mitchell C Lock, Meng Yuan Zhu, Lucy V Flynn, Sunthara Rajan Perumal, Christopher K Macgowan, Joseph B Selvanayagam, Janna L Morrison, Mike Seed
Phase-contrast cine MRI (PC-MRI) is the gold-standard non-invasive technique for measuring vessel blood flow and has previously been applied in the human fetal circulation. We aimed to assess the feasibility of using PC-MRI to define the distribution of the fetal circulation in sheep. Fetuses were catheterized at 119-120 days gestation (term, 150 days) and underwent MRI at 123 days gestation under isoflurane anesthesia, ventilated at a FiO2 of 1.0. PC-MRI was performed using a fetal arterial blood pressure catheter signal for cardiac triggering...
December 13, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29346405/oxytocin-alters-cell-fate-selection-of-rat-neural-progenitor-cells-in-vitro
#5
Arvind Palanisamy, Ramaswamy Kannappan, Zhiqiang Xu, Audrey Martino, Matthew B Friese, Justin D Boyd, Gregory Crosby, Deborah J Culley
Synthetic oxytocin (sOT) is widely used during labor, yet little is known about its effects on fetal brain development despite evidence that it reaches the fetal circulation. Here, we tested the hypothesis that sOT would affect early neurodevelopment by investigating its effects on neural progenitor cells (NPC) from embryonic day 14 rat pups. NPCs expressed the oxytocin receptor (OXTR), which was downregulated by 45% upon prolonged treatment with sOT. Next, we examined the effects of sOT on NPC death, apoptosis, proliferation, and differentiation using antibodies to NeuN (neurons), Olig2 (oligodendrocytes), and GFAP (astrocytes)...
2018: PloS One
https://www.readbyqxmd.com/read/29346266/the-relationship-between-autism-spectrum-disorder-and-melatonin-during-fetal-development
#6
REVIEW
Yunho Jin, Jeonghyun Choi, Jinyoung Won, Yonggeun Hong
The aim of this review is to clarify the interrelationship between melatonin and autism spectrum disorder (ASD) during fetal development. ASD refers to a diverse range of neurodevelopmental disorders characterized by social deficits, impaired communication, and stereotyped or repetitive behaviors. Melatonin, which is secreted by the pineal gland, has well-established neuroprotective and circadian entraining effects. During pregnancy, the hormone crosses the placenta into the fetal circulation and transmits photoperiodic information to the fetus allowing the establishment of normal sleep patterns and circadian rhythms that are essential for normal neurodevelopment...
January 18, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29343193/perinatal-sclerostin-concentrations-in-abnormal-fetal-growth-the-impact-of-gestational-diabetes
#7
Despina D Briana, Maria Boutsikou, Antonios Marmarinos, Dimitrios Gourgiotis, Ariadne Malamitsi-Puchner
OBJECTIVE: To prospectively evaluate maternal and cord blood concentrations of sclerostin -an osteocyte-secreted factor, inhibiting osteoblast differentiation and bone formation and associated with adverse metabolism- in pregnancies with normal and abnormal fetal growth. METHODS: Plasma sclerostin concentrations were determined by ELISA in 80 maternal and 80 cord blood samples from asymmetric intrauterine-growth-restricted (IUGR, n = 30), large-for-gestational-age (LGA, n = 30) and appropriate-for-gestational-age (AGA, n = 20) singleton full-term pregnancies...
January 17, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29342143/regulation-of-embryonic-haematopoietic-multipotency-by-ezh1
#8
Linda T Vo, Melissa A Kinney, Xin Liu, Yuannyu Zhang, Jessica Barragan, Patricia M Sousa, Deepak K Jha, Areum Han, Marcella Cesana, Zhen Shao, Trista E North, Stuart H Orkin, Sergei Doulatov, Jian Xu, George Q Daley
All haematopoietic cell lineages that circulate in the blood of adult mammals derive from multipotent haematopoietic stem cells (HSCs). By contrast, in the blood of mammalian embryos, lineage-restricted progenitors arise first, independently of HSCs, which only emerge later in gestation. As best defined in the mouse, 'primitive' progenitors first appear in the yolk sac at 7.5 days post-coitum. Subsequently, erythroid-myeloid progenitors that express fetal haemoglobin, as well as fetal lymphoid progenitors, develop in the yolk sac and the embryo proper, but these cells lack HSC potential...
January 17, 2018: Nature
https://www.readbyqxmd.com/read/29339451/inhibition-of-5%C3%AE-reductase-alters-pregnane-metabolism-in-the-late-pregnant-mare
#9
Michelle Wynn, Barry A Ball, Erin Lea Legacki, Alan Conley, Shavahn Loux, John May, Alejandro Esteller-Vico, Scott D Stanley, Kirsten Scoggin, Edward L Squires, Mats Ht Troedsson
In the latter half of gestation in the mare, progesterone concentrations decline to near undetectable levels while other 5α-reduced pregnanes are elevated. Of these, 5α-dihydroprogesterone and allopregnanolone have been reported to have important roles in either pregnancy maintenance or fetal quiescence. During this time, the placenta is necessary for pregnane metabolism, with the enzyme 5α-reductase being required for the conversion of progesterone to 5α-dihydroprogesterone. The objectives of this study were to assess the effects of a 5α-reductase inhibitor, dutasteride, on pregnane metabolism (pregnenolone, progesterone, 5α-dihydroprogesterone, 20α-hydroxy-5α-pregnan-3-one, 5α-pregnane-3β,20α-diol, and allopregnanolone), to determine circulating dutasteride concentrations, and to assess effects of dutasteride treatment on gestational parameters...
January 16, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29330635/hypotension-due-to-spinal-anesthesia-influences-fetal-circulation-in-primary-caesarean-sections
#10
K Lato, I Bekes, Peter Widschwendter, T W P Friedl, W Janni, F Reister, G Froeba, U Friebe-Hoffmann
PURPOSE: Hypotension due to spinal anesthesia is a well-known side effect in pregnant women receiving caesarean section. Little is known about its impact on fetal blood circulation. METHODS: 40 women with uncomplicated singleton term pregnancies prepared for caesarean section were prospectively evaluated by Doppler sonography before and immediately after spinal anesthesia. RESULTS: In 90% of the women, blood pressure significantly decreased after spinal anesthesia and 42...
January 12, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29320948/the-profiles-of-soluble-adhesion-molecules-in-the-great-obstetrical-syndromes
#11
Nikolina Docheva, Roberto Romero, Piya Chaemsaithong, Adi L Tarca, Gaurav Bhatti, Percy Pacora, Bogdan Panaitescu, Noppadol Chaiyasit, Tinnakorn Chaiworapongsa, Eli Maymon, Sonia S Hassan, Offer Erez
OBJECTIVE: The objective of this study was to determine the profiles of maternal plasma soluble adhesion molecules in patients with preeclampsia, small-for-gestational-age (SGA) fetuses, acute pyelonephritis, preterm labor with intact membranes (PTL), preterm prelabor rupture of the membranes (preterm PROM), and fetal death. MATERIALS AND METHODS: A cross-sectional study was conducted to determine maternal plasma concentrations of sE-selectin, sL-selectin, and sP-selectin as well as sICAM-1, sVCAM-1, and sPECAM-1 in patients with 1) an uncomplicated pregnancy (control, n = 100); 2) preeclampsia (n = 94); 3) SGA fetuses (in women without preeclampsia/hypertension, n = 45); 4) acute pyelonephritis (n = 25); 5) PTL (n = 53); 6) preterm PROM (n = 24); and 7) fetal death (n = 34)...
January 10, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29305391/prevalence-and-risk-factors-for-microcephaly-at-birth-in-brazil-in-2010
#12
Antônio A Silva, Marco A Barbieri, Maria T Alves, Carolina A Carvalho, Rosângela F Batista, Marizélia R Ribeiro, Fernando Lamy-Filho, Zeni C Lamy, Viviane C Cardoso, Ricardo C Cavalli, Vanda M Simões, Heloisa Bettiol
OBJECTIVES: To estimate the baseline prevalence and risk factors for microcephaly at birth before the Zika virus epidemic in 2 Brazilian cities. METHODS: We used population-based data from the Brazilian Ribeirão Preto (RP) and São Luís (SL) birth cohort studies of 2010 that included hospital deliveries by resident mothers. The final sample was 7376 live births in RP and 4220 in SL. Gestational age was based on the date of the mother's last normal menstrual period or obstetric ultrasonography, if available...
January 5, 2018: Pediatrics
https://www.readbyqxmd.com/read/29297119/expression-of-components-of-the-serotonergic-system-in-the-developing-rat-thymus
#13
N V Lifantseva, Ts O Koneeva, E E Voronezhskaya, V I Melnikova
The developing thymus of rat fetuses contains all components of the serotonergic system: receptors, enzymes of synthesis, and membrane transporters. The expression of receptors suggests the possibility of a direct influence of serotonin on thymic development. The presence of tryptophan hydroxylase (the key rate-limiting enzyme of serotonin synthesis) and aromatic l-amino acid decarboxylase indicates the ability of fetal thymic cells to synthesize serotonin. It was shown that the cells of a developing thymus can actively uptake extracellular monoamines...
November 2017: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29296749/high-cd123-levels-enhance-proliferation-in-response-to-il-3-but-reduce-chemotaxis-by-downregulating-cxcr4-expression
#14
Nicole L Wittwer, Gabriela Brumatti, Ceilidh Marchant, Jarrod J Sandow, Melanie K Pudney, Mara Dottore, Richard J D'Andrea, Angel F Lopez, Paul G Ekert, Hayley S Ramshaw
High expression of the α chain of the interleukin-3 receptor (IL-3Rα; CD123) is a hallmark of acute myeloid leukemia (AML) leukemic stem cells (LSCs). Elevated CD123 expression is part of the diagnostic immunophenotyping of myeloid leukemia, and higher expression is associated with poor prognosis. However, the biological basis of the poorer prognosis is unclear, and may include heightened IL-3 signaling and non-cell autonomous interactions with the bone marrow (BM) microenvironment. We used TF-1 cells expressing different levels of CD123 and found elevated CD123 levels amplified the proliferative response to exogenous IL-3 and maintained viability in reducing IL-3 concentrations...
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/29289577/longitudinal-serum-and-urine-steroid-metabolite-profiling-in-a-46-xy-infant-with-prenatally-identified-por-deficiency
#15
Hiroyuki Ono, Chikahiko Numakura, Keiko Homma, Tomonobu Hasegawa, Seiji Tsutsumi, Fumiko Kato, Yasuko Fujisawa, Maki Fukami, Tsutomu Ogata
Although POR deficiency (PORD) is assumed to be accompanied by excessive placental androgen accumulation and enhanced adrenal and testicular androgen production via the backdoor pathway as well as compromised testicular androgen production via the frontdoor pathway, there is no direct evidence for the flux of excessive placental androgens into the fetal circulation and for the production of dihydrotestosterone (DHT) via the backdoor pathway. We examined longitudinal serum and urine steroid metabolite profiles in a 46,XY infant with PORD who was prenatally identified because of the progressive fetal masculinization and maternal virilization from the mid-gestation and the presence of fetal radio-humeral synostosis and was confirmed to have compound heterozygous mutations of POR (p...
December 28, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29288977/maternal-nutritional-restriction-during-late-gestation-impairs-development-of-the-reproductive-organs-in-both-male-and-female-lambs
#16
F Hoffman, E Boretto, S Vitale, V Gonzalez, G Vidal, M F Pardo, M F Flores, F Garcia, G Bagnis, O C M Queiroz, M B Rabaglino
Maternal nutritional restrictions during late gestation could lead to fetal hypoglycemia. Glucose levels in the fetal sheep regulate circulating insulin-like growth factor 1 (IGF1) levels, which stimulate cell proliferation and differentiation of reproductive organs after binding to its own receptor or estrogen receptors. The objective of this study was to determine the effects of subnutrition of ewes during the last trimester of gestation on the serum glucose/IGF1 levels and development of reproductive organs in their lambs...
December 15, 2017: Theriogenology
https://www.readbyqxmd.com/read/29287139/fetal-interventions-for-structural-heart-disease
#17
David N Schidlow, Lindsay Freud, Kevin Friedman, Wayne Tworetzky
Fetal cardiac intervention (FCI) offers the potential to alter in utero anatomy and physiology. For aortic stenosis with evolving hypoplastic left heart syndrome and pulmonary atresia with intact ventricular septum with evolving hypoplastic right heart syndrome, FCI may result in maintenance of a biventricular circulation, thus avoiding single-ventricle palliation and its attendant complications. In the case of hypoplastic left heart syndrome with intact atrial septum, FCI may ameliorate in utero pathophysiology and portend a more favorable postnatal prognosis...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287136/cerebrovascular-hemodynamics-in-fetuses-with-congenital-heart-disease
#18
Tingting Man, Yihua He, Ying Zhao, Lin Sun, Xiaowei Liu, Shuping Ge
BACKGROUND AND OBJECTIVE: It is hypothesized that diminished cerebral vascular resistance or the "brain sparing effect" is associated with fetuses with complex congenital heart defects (CHD) and may affect their neurodevelopmental outcome. An alternative explanation is that it is related to the location, cardiac output, pressure, and resistance in left heart obstructive CHDs. We sought to determine the effects of various left and right heart obstructive defects on the cerebral and placental hemodynamics and to evaluate the utility of these variables for the assessment and prognosis of CHDs...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29287129/new-advances-in-fetal-cardiovascular-magnetic-resonance-imaging-for-quantifying-the-distribution-of-blood-flow-and-oxygen-transport-potential-applications-in-fetal-cardiovascular-disease-diagnosis-and-therapy
#19
REVIEW
Liqun Sun, Christopher K Macgowan, Sharon Portnoy, John G Sled, Shi-Joon Yoo, Lars Grosse-Wortmann, Edgar Jaeggi, John Kingdom, Mike Seed
Until recently, our modern understanding of fetal circulatory physiology has been largely based on invasive measurements made in fetal sheep. However, new MRI technology developed by our group has provided equivalent information about the distribution of blood flow and oxygen transport noninvasively. The initial findings largely confirm prior estimates about the human fetal circulation extrapolated from fetal sheep data and human ultrasound data. Here we describe the hemodynamics of the normal late gestation human fetal circulation by MRI and speculate about what the advent of this technology might mean in terms of the management of fetuses affected by placental insufficiency and congenital heart disease...
December 2017: Echocardiography
https://www.readbyqxmd.com/read/29281153/microvascular-perfusion-of-the-placenta-developing-fetal-liver-and-lungs-assessed-with-intravoxel-incoherent-motion-imaging
#20
András Jakab, Ruth L Tuura, Raimund Kottke, Nicole Ochsenbein-Kölble, Giancarlo Natalucci, Thi Dao Nguyen, Christian Kellenberger, Ianina Scheer
BACKGROUND: In utero intravoxel incoherent motion magnetic resonance imaging (IVIM-MRI) provides a novel method for examining microvascular perfusion fraction and diffusion in the developing human fetus. PURPOSE: To characterize gestational changes in the microvascular perfusion fraction of the placenta, fetal liver, and lungs using IVIM-MRI. STUDY TYPE: Retrospective, cross-sectional study. SUBJECTS: Fifty-five datasets from 33 singleton pregnancies were acquired (17-36 gestational weeks)...
December 27, 2017: Journal of Magnetic Resonance Imaging: JMRI
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