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Maternal-Fetal Medicine

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https://www.readbyqxmd.com/read/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#1
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28796674/neonatal-morbidity-of-small-and-large-for-gestational-age-neonates-born-at-term-in-uncomplicated-pregnancies
#2
Suneet P Chauhan, Madeline Murguia Rice, William A Grobman, Jennifer Bailit, Uma M Reddy, Ronald J Wapner, Michael W Varner, John M Thorp, Kenneth J Leveno, Steve N Caritis, Mona Prasad, Alan T N Tita, George Saade, Yoram Sorokin, Dwight J Rouse, Jorge E Tolosa
OBJECTIVE: To compare morbidity among small-for-gestational-age (SGA; birth weight less than the 10th percentile for gestational age), appropriate-for-gestational-age (AGA; birth weight 10th to 90th percentile; reference group), and large-for-gestational-age (LGA; birth weight greater than the 90th percentile) neonates in apparently uncomplicated pregnancies at term (37 weeks of gestation or greater). METHODS: This secondary analysis, derived from an observational obstetric cohort of 115,502 deliveries, included women with apparently uncomplicated pregnancies of nonanomalous singletons who had confirmatory ultrasound dating no later than the second trimester and who delivered between 37 0/7 and 42 6/7 weeks of gestation...
August 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28796236/genetic-disruption-of-the-oncogenic-hmga2-plag1-igf2-pathway-causes-fetal-growth-restriction
#3
Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Madeleine D Harbison, Irène Netchine
PurposeFetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many cases. The aim of this study is to identify novel human mutations and genes related to Silver-Russell syndrome (SRS), a syndromic form of fetal growth retardation, usually caused by epigenetic downregulation of the potent fetal growth factor IGF2.MethodsWhole-exome sequencing was carried out on members of an SRS familial case. The candidate gene from the familial case and two other genes were screened by targeted high-throughput sequencing in a large cohort of suspected SRS patients...
August 10, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28795682/effects-of-antenatal-diet-and-physical-activity-on-maternal-and-fetal-outcomes-individual-patient-data-meta-analysis-and-health-economic-evaluation
#4
Ewelina Rogozińska, Nadine Marlin, Louise Jackson, Girish Rayanagoudar, Anneloes E Ruifrok, Julie Dodds, Emma Molyneaux, Mireille Nm van Poppel, Lucilla Poston, Christina A Vinter, Fionnuala McAuliffe, Jodie M Dodd, Julie Owens, Ruben Barakat, Maria Perales, Jose G Cecatti, Fernanda Surita, SeonAe Yeo, Annick Bogaerts, Roland Devlieger, Helena Teede, Cheryce Harrison, Lene Haakstad, Garry X Shen, Alexis Shub, Nermeen El Beltagy, Narges Motahari, Janette Khoury, Serena Tonstad, Riitta Luoto, Tarja I Kinnunen, Kym Guelfi, Fabio Facchinetti, Elisabetta Petrella, Suzanne Phelan, Tânia T Scudeller, Kathrin Rauh, Hans Hauner, Kristina Renault, Christianne Jm de Groot, Linda R Sagedal, Ingvild Vistad, Signe Nilssen Stafne, Siv Mørkved, Kjell Å Salvesen, Dorte M Jensen, Márcia Vitolo, Arne Astrup, Nina Rw Geiker, Sally Kerry, Pelham Barton, Tracy Roberts, Richard D Riley, Arri Coomarasamy, Ben Willem Mol, Khalid S Khan, Shakila Thangaratinam
BACKGROUND: Diet- and physical activity-based interventions in pregnancy have the potential to alter maternal and child outcomes. OBJECTIVES: To assess whether or not the effects of diet and lifestyle interventions vary in subgroups of women, based on maternal body mass index (BMI), age, parity, Caucasian ethnicity and underlying medical condition(s), by undertaking an individual patient data (IPD) meta-analysis. We also evaluated the association of gestational weight gain (GWG) with adverse pregnancy outcomes and assessed the cost-effectiveness of the interventions...
August 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28794892/the-use-of-non-invasive-fetal-electrocardiography-in-diagnosing-second-degree-fetal-atrioventricular-block
#5
Igor Lakhno, Joachim A Behar, Julien Oster, Vyacheslav Shulgin, Oleksii Ostras, Fernando Andreotti
BACKGROUND: Complete atrioventricular block in fetuses is known to be mostly associated with autoimmune disease and can be irreversible if no steroids treatment is provided. Conventional methods used in clinical practice for diagnosing fetal arrhythmia are limited since they do not reflect the primary electrophysiological conduction processes that take place in the myocardium. The non-invasive fetal electrocardiogram has the potential to better support fetal arrhythmias diagnosis through the continuous analysis of the beat to beat variation of the fetal heart rate and morphological analysis of the PQRST complex...
2017: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/28791818/combined-screening-for-early-and-late-pre-eclampsia-and-intrauterine-growth-restriction-by-maternal-history-uterine-artery-doppler-mean-arterial-pressure-and-biochemical-markers
#6
Ewelina Litwińska, Magdalena Litwińska, Przemysław Oszukowski, Krzysztof Szaflik, Piotr Kaczmarek
BACKGROUND: Pre-eclampsia is a systemic disease connected with high maternal and fetal morbidity and mortality. Despite significant progress achieved in perinatal medicine, pre-eclampsia is still one of the most significant current problems in obstetrics. OBJECTIVES: The aim of the study was to establish diagnostic algorithms for early and late pre-eclampsia (PE) and intrauterine growth restriction (IUGR). MATERIAL AND METHODS: A total of 320 pregnant women between 11 + 0 and 13 + 6 weeks of gestation were recruited for a case-control study...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28782502/society-for-maternal-fetal-medicine-smfm-consult-series-43-hepatitis-c-in-pregnancy-screening-treatment-and-management
#7
Brenna L Hughes, Charlotte M Page, Jeffrey A Kuller
In the United States, 1-2.5% of pregnant women are infected with hepatitis C virus (HCV), which carries an approximately 5% risk of transmission from mother to infant. HCV can be transmitted to the infant in utero or during the peripartum period, and infection during pregnancy is associated with increased risk of adverse fetal outcomes, including fetal growth restriction and low birth weight. The purpose of this document is to discuss the current evidence regarding HCV in pregnancy and to provide recommendations on screening, treatment, and management of this disease during pregnancy...
August 3, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28782146/cerebroplacental-ratio-in-reduced-fetal-movements-evidence-for-worsening-fetal-hypoxemia
#8
Julia Binder, Caitriona Monaghan, Baskaran Thilaganathan, José Morales-Roselló, Asma Khalil
OBJECTIVE: To investigate the fetal cerebroplacental ratio (CPR) in women presenting with reduced fetal movements (RFM). METHODS: This is a retrospective cohort study conducted over a 7-year period at a Fetal Medicine Unit at a tertiary referral centre. 4500 singleton pregnancies presenting with RFM after 36 weeks' gestation and 1527 control pregnancies at a similar gestation without RFM were analysed. Fetal biometry and Doppler parameters were recorded and converted into centiles and multiples of the median (MoM)...
August 7, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28782117/risk-factors-for-blood-transfusion-in-patients-undergoing-high-order-cesarean-delivery
#9
Jessica Spiegelman, Mirella Mourad, Stephanie Melka, Simi Gupta, Jennifer Lam-Rachlin, Andrei Rebarber, Daniel H Saltzman, Nathan S Fox
BACKGROUND: The objective was to identify risk factors associated with blood transfusion in patients undergoing high-order Cesarean delivery (CD). STUDY DESIGN AND METHODS: This was a retrospective cohort study of patients undergoing third or more CD by a single maternal-fetal medicine practice between 2005 and 2016. We compared risk factors between women who did and did not receive a red blood cell transfusion during the operation or before discharge. Repeat analysis was performed after excluding women with placenta previa...
August 7, 2017: Transfusion
https://www.readbyqxmd.com/read/28780660/update-on-valvular-heart-disease-in-pregnancy
#10
REVIEW
Lucy M Safi, Sarah V Tsiaras
Valvular heart disease in women of childbearing age poses an increased risk of adverse maternal and fetal outcomes, and management in pregnancy can be challenging. Ideally, patients with suspected valvular disease should have preconception counseling by a multidisciplinary team including cardiologists with expertise in pregnancy and a maternal-fetal medicine specialist. Preconception planning should include a cardiac assessment of maternal risk, determination of frequency of surveillance, and a cardiovascular management plan during delivery...
September 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28780659/preconception-counseling-for-women-with-cardiac-disease
#11
REVIEW
Mark A Clapp, Sarah N Bernstein
All providers who care for reproductive-aged women with cardiac disease should assess these patients' desires and plans for pregnancy at every encounter. For those considering pregnancy, preconception counseling, often performed by a maternal-fetal medicine specialist, can help patients understand the potential implications of pregnancy on their health and estimate the risks of an adverse cardiac event prior to conceiving. There are cardiac conditions, such as pulmonary hypertension and aortic stenosis, in which pregnancy may be contraindicated given the high morbidity and mortality; there are tools available to help quantify a patient's risk...
September 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28762666/developmental-toxicity-evaluation-of-pimenta-pseudocaryophyllus-gomes-landrum-e-methyl-isoeugenol-chemotype-in-wistar-rats
#12
Bruce Soares Cardoso, Katia Borges Machado, José Realino de Paula, Joelma Abadia Marciano de Paula, Wilson de Melo Cuvinel, Vanessa Cristiane Santana Amaral
BACKGROUND: Pimenta pseudocaryophyllus (Gomes) Landrum (Myrtaceae) has been traditionally used in Brazilian folk medicine. Studies have established the botanical characterization, phytochemistry profile, and pharmacological potential of this species, including antibiotic, anxiolytic, antidepressant, antioxidant, antinociceptive, and anti-inflammatory properties. Despite its widespread use, no previous study has been conducted regarding its toxicological profile, especially during pregnancy...
August 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28749484/communication-related-allegations-against-physicians-caring-for-premature-infants
#13
J Nguyen, H Muniraman, M Cascione, R Ramanathan
OBJECTIVE: Maternal-fetal medicine physicians (MFMp) and neonatal-perinatal medicine physicians (NPMp) caring for premature infants and their families are exposed to significant risk for malpractice actions. Effective communication practices have been implicated to decrease litigious intentions but the extent of miscommunication as a cause of legal action is essentially unknown in this population. Analysis of communication-related allegations (CRAs) may help toward improving patient care and physician-patient relationships as well as decrease litigation risks...
July 27, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#14
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28735702/quality-measures-in-high-risk-pregnancies-executive-summary-of-a-cooperative-workshop-of-the-society-for-maternal-fetal-medicine-national-institute-of-child-health-and-human-development-and-the-american-college-of-obstetricians-and-gynecologists
#15
Brian K Iriye, Kimberly D Gregory, George R Saade, William A Grobman, Haywood L Brown
No abstract text is available yet for this article.
July 20, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28729106/no-223-content-of-a-complete-routine-second-trimester-obstetrical-ultrasound-examination-and-report
#16
Yvonne Cargill, Lucie Morin
OBJECTIVE: To review the benefits of and requirements for a complete second trimester ultrasound and the documentation needed. OUTCOMES: A complete second trimester ultrasound provides information about the number of fetuses, the gestational age, the location of the placenta, and fetal and maternal anatomy. EVIDENCE: In the production of this document, the American Institute of Ultrasound in Medicine's "Practice Guideline for the Performance of Obstetric Ultrasound Examinations," the American College of Obstetricians and Gynecologists' practice bulletin, "Ultrasound in Pregnancy," and the Royal College of Obstetricians and Gynaecologists' Working Party Report, "Ultrasound Screening" were reviewed...
August 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28724164/predictive-characteristics-of-elevated-1-hour-glucose-challenge-test-results-for-gestational-diabetes
#17
Alan T N Tita, Yinglei Lai, Mark B Landon, Susan M Ramin, Brian Casey, Ronald J Wapner, Michael W Varner, John M Thorp, Anthony Sciscione, Patrick Catalano, Margaret Harper, George R Saade, Steve N Caritis, Yoram Sorokin, Alan M Peaceman, Jorge E Tolosa
No abstract text is available yet for this article.
July 19, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28719639/oral-administration-of-chinese-herbal-medicine-during-gestation-period-for-preventing-hemolytic-disease-of-the-newborn-due-to-abo-incompatibility-a-systematic-review-of-randomized-controlled-trials
#18
Huijuan Cao, Ruohan Wu, Mei Han, Patrina Ha Yuen Caldwell, Jian-Ping Liu
BACKGROUND: About 85.3% of hemolytic disease of the newborn (HDN) is caused by maternal-fetal ABO blood group incompatibility. However, there is currently no recommended "best" therapy for ABO incompatibility during pregnancy. OBJECTIVES: To systematically assess the safety and effectiveness of oral Chinese herbal medicine (CHM) for preventing HDN due to ABO incompatibility. METHODS: The protocol of this review was registered on the PROSPERO website (No...
2017: PloS One
https://www.readbyqxmd.com/read/28715818/first-trimester-combined-multimarker-prospective-study-for-the-detection-of-pregnancies-at-a-high-risk-of-developing-preeclampsia-using-the-fetal-medicine-foundation-algorithm
#19
Meriem Guizani, Joseph Valsamis, Vivien Dutemeyer, Xin Kang, Vera Ceccoti, Joe Khalife, Silvia F Duiella, Frederic Blavier, Alessandra Faraca, Teresa Cos, Jacques C Jani
OBJECTIVE: To evaluate the Fetal Medicine Foundation (FMF) algorithm prospectively at 11-13 weeks' gestation in the prediction of preeclampsia (PE). METHODS: Single-center prospective screening study for PE of singleton pregnancies at 11-13 weeks. The FMF algorithm takes into account maternal characteristics and biomarkers. Detection rate (DR) for a 10% false-positive rate (FPR) for delivery with preterm and term PE was estimated. RESULTS: Between January 2011 and December 2013, of 3,239 patients available for final analysis, 36 (1...
July 18, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28707556/informed-consent-and-informed-decision-in-maternal-fetal-neonatal-medicine-do-they-go-hand-in-hand
#20
Shigeki Matsubara, Daisuke Matsubara
No abstract text is available yet for this article.
July 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
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