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Prenatal diagnosis

C Mozet, T Kuhnt, B Sattler, J Remmele, U Thome, H Stepan, R Kluge, A Dietz, M Knoedler
Objective: The diagnosis of cancer in pregnancy is rare, but might become more relevant even for head and neck cancer patients due to a shift of age of primipara towards the last third of reproductive years. Unsureness exists about the risk and benefit of diagnostic and therapeutic cancer modalities for the unborn and established recommendations are still missing. But, according to recent data, even multimodal therapeutic approaches (e. g. surgery, radiation, chemotherapy) seem possible in face of pregnancy and should be traded against the risk of prematurity...
October 2016: Laryngo- Rhino- Otologie
Carolin A Boecking, Eleanor A Drey, Jennifer L Kerns, Walter E Finkbeiner
CONTEXT: -Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. OBJECTIVES: -To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses...
October 20, 2016: Archives of Pathology & Laboratory Medicine
Tai-Heng Chen, Xia Tian, Pao-Lin Kuo, Hui-Ping Pan, Lee-Jun C Wong, Yuh-Jyh Jong
BACKGROUND: Fetal akinesia deformation sequence (FADS) refers to a broad spectrum of disorder with the absent fetal movement as the unifying feature. The etiology of FADS is heterogeneous and the majority remains unknown. Prenatal diagnosis of FADS due to neuromuscular origin has relied on clinical features and fetal muscle pathology, which can be unrevealing. The recent advance of next generation sequencing (NGS) can provide definitive molecular diagnosis effectively. METHODS AND RESULTS: An 18-week old fetus presented with akinesia and multiple contractures of joints...
October 20, 2016: Prenatal Diagnosis
Antonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Kanika Gupta, Bhuvaneswari Venkatesan, Kiruba Shankar Manoharan, Vaithianathan Rajalakshmi, Maya Menon
Congenital high airway obstruction syndrome is a rare fetal anomaly with characteristic constellation of prenatal findings on ultrasound and MRI. The typical triad of imaging features are enlarged and echogenic lungs, flattening or inversion of diaphragm and fetal hydrops. Early prenatal recognition of congenital high airway obstruction syndrome by ultrasound and/or MRI is mandatory for the appropriate perinatal management. We report a case of a male fetus with typical imaging findings of congenital high airway obstruction syndrome on ultrasound and MRI at 19 weeks of gestation...
August 2016: Journal of Radiology Case Reports
Camila V Ventura, Maria Paula Fernandez, Ivan A Gonzalez, Delia M Rivera-Hernandez, Roberto Lopez-Alberola, Maria Peinado, Angelica A Floren, Patricia A Rodriguez, Basil K Williams, Gabriela de la Vega Muns, Ana J Rodriguez, Catherin Negron, Brenda Fallas, Audina M Berrocal
A 6-day-old female baby with known diagnosis of congenital Zika infection was referred for ophthalmologic examination. The mother (37 years old) was referred for a pruritic rash, conjunctival hyperemia, and malaise at 12 weeks of gestation while still living in Venezuela. Upon arrival to Miami, Zika virus (ZIKV) exposure was confirmed during prenatal screening. At birth, due to the known exposure, a complete congenital ZIKV workup was performed, including brain ultrasound and MRI, which disclosed calcifications in the frontal lobe...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Alicia Iglesias-Deus, Alejandro Pérez-Muñuzuri, Adela Urisarri, Adolfo Bautista-Casasnovas, Maria-Luz Couce
BACKGROUND: Umbilical cord hemangioma is very rare and may not be detected prenatally. However, it should be considered in differential diagnosis with other umbilical masses because it can cause significant morbidity. METHODS: We report the case of a newborn referred with suspected omphalitis and umbilical hernia. RESULTS: Physical examination showed an irreducible umbilical tumor, the size of olive, with dubious secretion. The initial suspected diagnosis was urachal or omphalomesenteric duct remnants...
October 2016: Medicine (Baltimore)
Przemysław Bombiński, Stanisław Warchoł, Michał Brzewski, Zofia Majkowska, Teresa Dudek-Warchoł, Maria Żerańska, Małgorzata Panek, Magdalena Drop
BACKGROUND: Extravaginal testicular torsion (ETT), also called prenatal or perinatal, occurs prenatally and is present at birth or appears within the first month of life. It has different etiology than intravaginal torsion, which appears later in life. Testicular torsion must be taken into consideration in differential diagnosis of acute scrotum and should be confirmed or ruled out at first diagnostic step. Ultrasonography is a basic imaging modality, however diagnostic pitfalls are still possible...
2016: Polish Journal of Radiology
Joachim Heinrich, Guo Feng, Mary Jo Trepka
BACKGROUND: Although mercury exposure has been associated with several adverse health effects, the association with childhood asthma is under-investigated. Therefore, we explore the association between mercury and childhood asthma in a population with low mercury levels. METHODS: Mercury levels were measured in blood and urine in 1,056 children aged 5-14 years. In addition to including questions about asthma diagnosis and wheezing, the study measured bronchial hyper-responsiveness and allergic sensitization to common aeroallergens...
October 6, 2016: Epidemiology
Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishnan, Sunil Jaiman, Meenu Batra, Gopinathan Kannoly
The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity...
October 18, 2016: Journal of Clinical Ultrasound: JCU
Christian Schäfer, Tobias Paprotka, Ellen Heitzer, Mark Eccleston, Johannes Noe, Stefan Holdenrieder, Frank Diehl, Alain Thierry
Researchers working in industrial laboratories as well as in academic laboratories discussed topics related to the use of extracellular nucleic acids in different fields. These included areas like non-invasive prenatal diagnosis, the application of different methods for the analysis and characterization of patients with benign and malignant diseases and technical aspects associated with extracellular nucleic acids. In addition, the possibilities and chances for a cooperation of researchers working in different worlds, i...
2016: Advances in Experimental Medicine and Biology
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Marta Ferro, Hada C Macher, Pilar Noguerol, Pilar Jimenez-Arriscado, Patrocinio Molinero, Juan M Guerrero, Amalia Rubio
Fetal and Neonatal alloimmune thrombocytopenia (FNAIT) is a condition which could occur when pregnant women develop an alloimmunization against paternally inherited antigens of the fetal platelets. Approximately 80 % of FNAIT cases are caused by anti-HPA-1a, about 15 % by anti-HPA-5b and 5 % by other HPA antibodies. Only 2 % of the total population is HPA-1a negative (HPA-1b1b). The HPA-1a allele differs by one single nucleotide from HPA-1b allele, yet it represents around 27 % of total severe thrombocytopenias...
2016: Advances in Experimental Medicine and Biology
Martin Kyncl, Martin Koci, Lea Ptackova, Ludmila Hornofova, Fabian Ondrej, Jiri Snajdauf, Marcela Pychova
BACKGROUND: This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. METHODS: CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria...
October 17, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. MATERIALS AND METHODS: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Yu-Chun Pan, Yang Liu, Wei-Qing Wu, Jian-Sheng Xie
OBJECTIVE: To study gene mutations in four pedigrees with methymalonic aciduria, as well as the feasibility of prenatal diagnosis of methymalonic aciduria. METHODS: High-throughput sequencing was performed for related genes in the peripheral blood of children or parents who were diagnosed with methymalonic aciduria to identify the loci with mutations. Then amplification primers were designed for each locus, and PCR and direct sequencing were performed to validate the sequencing in the first generation in the four pedigrees...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Yuval Yaron, Jon Hyett, Sylvie Langlois
No abstract text is available yet for this article.
October 16, 2016: Prenatal Diagnosis
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