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Fetal Diagnostic

Usha D Nagaraj, Karin S Bierbrauer, Charles B Stevenson, Jose L Peiro, Foong-Yen Lim, Bin Zhang, Beth M Kline-Fath
OBJECTIVE: The purpose of this study was to examine differences between patients with myelomeningocele and those with myelocele with respect to brain imaging findings at fetal MRI. MATERIALS AND METHODS: A single-center retrospective analysis was performed of fetal MRI examinations revealing open spinal dysraphism from 2004 through 2016 with available diagnostic postnatal spinal MR images in conjunction with neurosurgical follow-up findings. Images were reviewed by two board-certified fellowship-trained pediatric neuroradiologists...
October 17, 2018: AJR. American Journal of Roentgenology
S Brun, P Pennamen, A Mattuizzi, F Coatleven, M L Vuillaume, D Lacombe, B Arveiler, J Toutain, C Rooryck
OBJECTIVE: The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Restriction (IUGR). METHOD: We retrospectively included all fetuses with IUGR referred for prenatal testing and studied by rapid fluorescence in situ hybridization (FISH), karyotype and CMA. RESULTS: Among the 162 IUGR fetuses (78 associated and 84 isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five isolated fetal IUGRs...
October 17, 2018: Prenatal Diagnosis
Jillian Ashley-Martin, Linda Dodds, Tye E Arbuckle, Maryse F Bouchard, Gabriel D Shapiro, Mandy Fisher, Patricia Monnier, Anne-Sophie Morisset, Adrienne S Ettinger
BACKGROUND: Epidemiological and toxicological evidence suggests that maternal total arsenic (As) levels are associated with an elevated risk of gestational diabetes (GDM). Uncertainty remains regarding the metabolic toxicity of specific arsenic species, comprised of both organic and inorganic sources of arsenic exposure. OBJECTIVES: We assessed associations between speciated As and GDM using data from the Maternal-Infant Research on Environmental Chemicals (MIREC) Study...
October 12, 2018: Environment International
Fionnuala Mone, Elizabeth Quinlan-Jones, Mark D Kilby
Advances in prenatal genomics have enabled the assessment of not only the sub-microscopic structure of chromosomes using chromosomal microarray analysis, but also the detection of "pathogenic variants" to the resolution of a single base pair with the use of next generation sequencing. Research is emerging on the additional prenatal diagnostic yield that exome sequencing offers when structural fetal anomalies are detected on ultrasound examination, in particular the identification of monogenic abnormalities defining prognosis and recurrence of anomalies...
October 6, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Craig C Morton, Amy Metcalfe, Kamran Yusuf, Barbara Sibbald, R Douglas Wilson
BACKGROUND & OBJECTIVES: Prenatal screening and diagnostic imaging advances have led to an increased detection of CNS anomalies, including ventriculomegaly/congenital hydrocephalus (HCP), Dandy-Walker malformation (DWM), and myelomeningocele (MMC). Data on pregnancy outcomes and the impact of prenatal diagnosis on neonatal outcomes is limited. Our study aimed to provide data on obstetric and neonatal outcomes following prenatal diagnosis of one of three CNS anomalies. METHODS: A retrospective search of two databases in Alberta, Canada and NICU chart review of cases between 2001 and 2011was completed...
October 10, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Muhammad Raisul Abedin, Siddesh Umapathi, Harika Mahendrakar, Tunyaboon Laemthong, Holly Coleman, Denise Muchangi, Santimukul Santra, Manashi Nath, Sutapa Barua
BACKGROUND: Engineered inorganic nanoparticles (NPs) are essential components in the development of nanotechnologies. For applications in nanomedicine, particles need to be functionalized to ensure a good dispersibility in biological fluids. In many cases however, functionalization is not sufficient: the particles become either coated by a corona of serum proteins or precipitate out of the solvent. We show that by changing the coating of magnetic iron oxide NPs using poly-L-lysine (PLL) polymer the colloidal stability of the dispersion is improved in aqueous solutions including water, phosphate buffered saline (PBS), PBS with 10% fetal bovine serum (FBS) and cell culture medium, and the internalization of the NPs toward living mammalian cells is profoundly affected...
October 13, 2018: Journal of Nanobiotechnology
Manon Gijtenbeek, Enrico Lopriore, Sylke J Steggerda, Arjan B Te Pas, Dick Oepkes, Monique C Haak
BACKGROUND: Newborns with anemia are at increased risk of persistent pulmonary hypertension of the newborn (PPHN), yet reports on the association between fetomaternal hemorrhage (FMH) and PPHN are rare. To optimize care for pregnancies complicated by FMH, clinicians should be aware of the risks of FMH and the possible diagnostic and therapeutic options. To increase the current knowledge, the incidence of PPHN and short-term neurologic injury in FMH cases were studied. STUDY DESIGN AND METHODS: We included all FMH cases (≥30 mL fetal blood transfused into the maternal circulation) admitted to our neonatal unit between 2006 and 2018...
October 13, 2018: Transfusion
Bettina F Cuneo, Sven-Erik Sonesson, Stephanie Levasseur, Anita J Moon-Grady, Anita Krishnan, Mary T Donofrio, Marie-Josee Raboisson, Lisa K Hornberger, Peter Van Eerden, Elena Sinkovskaya, Alfred Abuhamad, Bhawna Arya, Anita Szwast, Helena Gardiner, Katherine Jacobs, Grace Freire, Lisa Howley, Aimee Lam, Alexander M Kaizer, D Woodrow Benson, Edgar Jaeggi
BACKGROUND: Fetal atrioventricular block (AVB) occurs in 2% to 4% of anti-Ro antibody-positive pregnancies and can develop in <24 h. Only rarely has standard fetal heart rate surveillance detected AVB in time for effective treatment. OBJECTIVES: Outcome of anti-Ro pregnancies was surveilled with twice-daily home fetal heart rate and rhythm monitoring (FHRM) and surveillance echocardiography. METHODS: Anti-Ro pregnant women were recruited from 16 international centers in a prospective observational study...
October 16, 2018: Journal of the American College of Cardiology
Matthys H Botha, Shalini Rajaram, Kanishka Karunaratne
The incidence of cancer in pregnancy is increasing. The most frequent malignancies include breast and cervical cancers. Diagnosis may be complicated by late presentation. Imaging during pregnancy should consider risks to the fetus. Diagnostic work-up, including tumor markers, can be influenced by the physiology of pregnancy. Treatment of cancer can often be safely administered with good maternal and fetal outcomes. Chemotherapy, radiotherapy, and surgery must be adapted to the pregnancy state. Counselling and emotional support are an essential part of management...
October 2018: International Journal of Gynaecology and Obstetrics
Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J McMullan, Eamonn R Maher, Matthew E Hurles, Mark D Kilby
PURPOSE: To determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death. METHODS: ES was undertaken in 27 proband/parent trios following full autopsy. Candidate pathogenic variants were classified by a multidisciplinary clinical review panel using American College of Medical Genetics and Genomics (ACMG) guidelines...
October 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Mohsen ElAlfy, Rania El-Farrash, Hesham Taha, Eman Ismail, Noha Mokhtar
BACKGROUND: Iron is crucial for fetal brain development; however, there are insufficient data regarding the effects of maternal iron deficiency anemia (IDA) on auditory neural maturation. AIM: We evaluated the effect of maternal IDA on auditory brainstem response (ABR) in full term neonates. METHODS: Out of 223 pregnant women, 50 were diagnosed as having IDA and 50 healthy mothers were enrolled as controls. ABR test was done for the studied neonates within 48 hours after birth and at 3 months...
October 8, 2018: Journal of Maternal-fetal & Neonatal Medicine
Tianhua Huang, Shelley Dougan, Mark Walker, Christine M Armour, Nan Okun
BACKGROUND: In 2014, Ontario augmented its publicly funded multiple-marker screening program for prenatal aneuploidy by incorporating cell-free fetal DNA (cffDNA) analysis for high-risk pregnancies. We assessed trends in the use of multiple-marker screening, cffDNA screening and prenatal diagnostic testing before and after implementation of public funding. METHODS: We conducted a descriptive study based on data from the Better Outcomes Registry & Network (BORN) Ontario...
October 2018: CMAJ Open
Nivaldo Adolfo da Silva, José Vassallo, Luis Otávio Sarian, Christophe Cognard, Annick Sevely
To report our preliminary experience with cerebral fetal magnetic resonance imaging (MRI) with a 3 Tesla (3T) scanner. We assessed feasibility, time of acquisition, and possibility to establish a diagnosis.Fifty-nine pregnant women had fetal MRI performed during the third trimester of pregnancy due to clinical or sonography concern of a central nervous system anomaly. No fetal or maternal sedation was used. The MRI protocol consisted of T2 turbo-spin-echo images in 3 planes of space. No T1-weighted images were performed...
October 2018: Medicine (Baltimore)
Farzaneh Ghazi Sherbaf, Mohammad Hadi Aarabi, Meisam Hosein Yazdi, Maryam Haghshomar
Diffusion tensor imaging (DTI) has revolutionized our understanding of the neural underpinnings of alcohol teratogenesis. This technique can detect alterations in white matter in neurodevelopmental disorders, such as fetal alcohol spectrum disorder (FASD). Using Prisma guidelines, we identified 23 DTI studies conducted on individuals with prenatal alcohol exposure (PAE). These studies confirm the widespread nature of brain damage in PAE by reporting diffusivity alterations in commissural, association, and projection fibers; and in relation to increasing cognitive impairment...
October 5, 2018: Human Brain Mapping
K Jolly, A Darr, W Arlt, S Ahmed, N Karavitaki
Cushing's syndrome in pregnancy is a rare phenomenon and there is limited literature on its management. Cushing's disease in pregnancy is even less common and there is little guidance to help in the treatment for this patient group. Diagnosis of Cushing's syndrome in pregnancy is often delayed due to overlap of symptoms. In addition, there are no validated diagnostic tests or parameters documented. We present a case of a 30-year-old woman presenting to the antenatal clinic at 13 weeks of pregnancy with high suspicion of Cushing's disease...
October 5, 2018: Annals of the Royal College of Surgeons of England
Yi-Ming Su, Yan Lin, Shu-Qiang Chen, Hong-Yi Yang, Guo-Rong Lv, Jin-Rong Lin
OBJECTIVES: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. METHODS: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum...
October 2, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Juraj Sokol, Maria Skerenova, Kamil Biringer, Tomas Simurda, Peter Kubisz, Jan Stasko
The aim of our study was to evaluate GP6 gene in patients with sticky platelet syndrome (SPS) and fetal loss. Platelet aggregability was tested with platelet-rich plasma using PACKS-4 aggregometer (Helena Laboratories). High-resolution melting analysis on LightCycler 480 II (Roche Diagnostics) was used for single-nucleotide polymorphism (SNP) genotyping. We examined 64 patients with SPS and 54 control participants. We found significantly higher occurrence of 5 SNPs in patients with SPS versus controls (rs1671152, rs1654433, rs1613662, rs1654416, and rs2304167)...
October 2, 2018: Clinical and Applied Thrombosis/hemostasis
Alvaro Perez-Moreno, Mara Dominguez, Federico Migliorelli, Eduard Gratacos, Montse Palacio, Elisenda Bonet-Carne
OBJECTIVES: To compare the robustness of several methods based on quantitative ultrasound (US) texture analysis to evaluate its feasibility for extracting features from US images to use as a clinical diagnostic tool. METHODS: We compared, ranked, and validated the robustness of 5 texture-based methods for extracting textural features from US images acquired under different conditions. For comparison and ranking purposes, we used 13,171 non-US images from widely known available databases (OUTEX [University of Oulu, Oulu, Finland] and PHOTEX [Texture Lab, Heriot-Watt University, Edinburgh, Scotland]), which were specifically acquired under different controlled parameters (illumination, resolution, and rotation) from 103 textures...
September 30, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
A E Paniz-Mondolfi, G M Blohm, M Hernandez-Perez, A Larrazabal, D Moya, M Marquez, A Talamo, A Carrillo, J Rothe de Arocha, J Lednicky, J G Morris
Zika virus (ZIKV) is an emerging mosquito-borne flavivirus transmitted mainly by Aedes species of mosquitos. Although the infection is usually mild and self-limiting, it is emerging as a public health challenge in tropical and subtropical countries owing to its unprecedented pathogenicity and increased risk for fetal malformations and neurological symptoms. Cutaneous manifestations as for other mosquito-borne viruses remain a hallmark of the disease. This article provides a detailed overview on ZIKV infection, including its varied cutaneous clinical manifestations and diagnostic aspects, and also provides detailed insights into its pathogenesis in human skin...
September 28, 2018: Clinical and Experimental Dermatology
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E Westerfield, Samantha Stover, Avinash V Dharmadhikari, Donna M Muzny, Richard A Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B Van den Veyver, Christine M Eng, Yaping Yang
BACKGROUND: Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting. METHODS: We retrospectively reviewed indications, results, time to results (turnaround time, TAT), and impact of exome results for 146 consecutive "fetal exomes" performed in a clinical diagnostic laboratory between March 2012 and November 2017...
September 28, 2018: Genome Medicine
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