Search Results

1 - 10 of 175 items :

  • "Prenatal diagnosis" x
Clear All
Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

talipes equinovarus in a non-selected population of 49314 deliveries in Norway. Ultrasound Obstet Gynecol 2007;30:838-44. 9. Radler C, Myers AK, Burghardt RD, et al. Maternal attitudes towards prenatal diagnosis of idiopathic clubfoot. Ultrasound Obstet Gynecol 2011;37:658-62. 10. Canto MJ, Cano S, Palau J, et al. Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome. Prenat Diagn 2008;28:343-6. 11. Keret D, Ezra E, Lokiec F, et al. Efficacy of prenatal ultrasonography in confirmed club foot. J Bone Joint

Open access
THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

References 1. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991; 49(5): 995-1013. 2. Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd ed. New York: Oxford University Press, 2004. 3. Shaffer LG, Slovak ML, Campbell LJ, Eds. ISCN (2009): an international system for human cytogenetic nomenclature. Basel: S. Karger, 2009. 4

Open access
Prenatal diagnosis of organic acidemias at a tertiary center

-MS) and tandem MS has facilitated the diagnosis of OAs in the past few decades [ 8 ]. Diagnosing OAs within the first 24-48 hours of life is critical as appropriate management protocols may prevent serious morbidity and even mortality [ 5 ]. Thus, neonatal screening programs have vital importance, especially in countries with higher rates for OAs [ 9 , 10 ]. Another important issue is providing suitable genetic counseling for couples with a history of OAs in their families, as prenatal diagnosis (PND) is available for most of them. Assessment of certain metabolites in

Open access
Prenatal Diagnosis of Congenitally Corrected Transposition of Great Arteries on the Basis of Four Chambers’ View - Case Report

References 1. Mc Ewing RL, Chaoui R.: Congenitally corrected transposition of great arteries: clues for prenatal diagnosis. Ulrasound Obstet Gynecol 2004, 23: 68-72 2. Respondek-Liberska M.: Kardiologia prenatalna dla położników i kardiologów dziecięcych. Czelej 2006 3. Szymkiewicz-Dangel J.: Kardiologia Płodu. Zasady diagnostyki i terapii. Poznań 2007, Ośrodek Wydawnictw Naukowych 4. Paladini D, Volpe P, Marasini M, Russo MG, Vassallo M, Gentile M & Calabro R.: Diagnosis, characterization and

Open access
Assessment of the accuracy in prenatal diagnosis of congenital malformations. Analysis of 101 questionnaires filled in by parents of neonates hospitalized in the Department of Congenital Malformations Polish Mother's Memorial Research Institute

, Paladini D. Cardiac creening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan. ISUOG Guidelines Ultrasound Obstet Gynecol 2006; 27: 107-113 6. Respondek-Liberska M.: Prenatal echocardiography and prenatal cardiology, Mak-Med, Gdańsk 1998 7. Gembruch U. Prenatal diagnosis of congenital heart disease. Prenat Diagn. 1997 Dec;17:1283-98 8. Respondek-Liberska M. Prenatal echocardiography in 1st,2nd and 3rd trimester in singelton pregnancy. Prenatal Cardiology 2012

Open access
Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

be carried out. Available at [http://www.nhs.uk/Conditions/ Abortion/ Pages/When-should-it-be-done.aspx] Accessed on January 8 2012. 7. Bischoff FZ, Sinacori MK, Dang DD, et al. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update. 2001; 8(6): 493-500. 8. Chitty LS, van der Schoot CE, Hahn S, Avent ND. SAFE-The special non-invasive advances in fetal and neonatal evaluation network: aims and achievements. Prenat Diagn

Open access
The Significance of Autopsy to Look for Extracardiac Anomalies, Despite Correct Prenatal Diagnosis of Hypoplastic Left Heart Syndrome in Two Siblings

, Quereshi S, Rosenthal E, Sherland G, Simpson J, Rollings S, Tulloh R: Outcome of staged reconstructive surgery for hypoplastic left heart syndrome following antenatal diagnosis. Arch Dis Child 2001, 85:474-477 11. Levey A, Glickstein JS, Kleinman CS, Lavasseur SM, Chen J, Gersony WM, Williams IA: The impact of Prenatal Diagnosis of Complex Congenital Heart Disease on Neonatal Outcomes. Pediatr Cardiol 2010, 31:587-597 12. Viemann PM, Partsch CJ, et al: Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis

Open access
Rapid Detection of Fetal Aneuploidies by Quantitative Fluorescent-Polymerase Chain Reaction for Prenatal Diagnosis in the Turkish Population

configurations on chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet. 1996; 14(4): 400-405. Grimshaw GM, Szczepura A, Hulten M. Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess. 2003; 7(10): 1-77. Leung WC, Lau ET, Lao TT, Tang MH. Rapid aneuploidy screening (FISH or QF-PCR): the changing scene in prenatal diagnosis? Expert Rev Mol Diagn. 2004; 4(3): 333-337. Ogilvie CM. Prenatal diagnosis for

Open access
Prenatal Diagnosis of TAPVC on Monday, Delivery of Tuesday and Cardiac Surgery at Wednesday - A Model of Perinatal Care in 3rd Trimester in Case of Fetal/Neonatal Critical Heart Defect in Tertiary Center.

Patients With Heterotaxy Syndrome. Ann Thorac Surg. 2015 Jun; 99(6) 6. Laux D, Fermont L, Bajolle F, Boudjemline Y, Stirnemann J, Bonnet D. Prenatal diagnosis of isolated total anomalous pulmonary venous connection: a series of 10 cases. Ultrasound Obstet Gynecol. 2013 Mar;41(3):291-7. 7. Law KM, Leung KY, Tang MH, Chau AK. Prenatal two- and three-dimensional sonographic diagnosis of total anomalous pulmonary venous connection. Ultrasound Obstet Gynecol. 2007 Oct;30(5) 8. Allan LD, Sharland GK. The echocardiographic diagnosis of totally anomalous

Open access
Is Subtelomeric MLPA Test (Multiplex Ligation-Dependent Probe Amplification) Useful in Prenatal Diagnosis?

References 1. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Willis AS, van den Veyver I, Eng CM. Prenat Diagn. 2012 Apr;32(4):315-20 2. Subtelomeric MLPA: is it really useful in prenatal diagnosis? Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sánchez A, Soler A: Prenat Diagn. 2010 Dec;30(12-13):1165-9. doi: 10.1002/pd.2635 3. Prenatal study of common submicroscopic „genomic disorders“ using MLPA with subtelomeric/microdeletion syndrome probe

Open access