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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

References 1. Respondek-Liberska M.: Prenatal cardiology, Czelej, Lublin 2006 2. Perenc M.: Prenatal diagnoses of congenital malformations - invasive and noninvasive methods. Przew. Lek. 2002, 5, 5, 94-99 3. Dangel J.:Prenatal diagnoses: myths and reality. Nauka 3/2007, 31-47 4. Benoit RM, Copel JA. Antenatal screening with fetal echocardiography: when and how. Contemporary OB/GYN, Vol. 48, No 9, September 2003, p.59 5. Eik-Nes S, Lee W, Carvalho JS, Chaoui R, Copel J, Hecher K

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Array-Based Comparative Genomic Hybridization Application for Revealing Genomic Micro Imbalances in Congenital Malformations

-57. Kalter IT, Warkany J. Medical progress. Congenital malformations: etiologic factors and their role in prevention (Part I). N Engl J Med 1983; 308(8): 424-431: Kalter IT, Warkany J. Congenital malformations (Part II). N Engl J Med 1983; 308(9): 491-497. Nelson K, Holmes LB. Malformations due to presumed spontaneous mutations in newborn infants. N Engl J Med 1989; 320(1): 19-23. Larrabee P, Johnson K, Pestova E, Lucas M, Wilber K, LeShane E, Tantravahi U, Cowan J, Bianchi D. Microarray

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Selected data from the Polish National Prenatal Cardiac Pathology Registry from the year 2016

study. Acta Obstet Gynecol Scand. 2001 Mar;80(3):224-8 23. Roth MP, Dott B, Alembik Y, Stoll C: Congenital malformations in a series of 66,068 consecutive births. Arch Fr Pediatr. 1987; 44: 173-6 24. Słodki M, Axt-Fliedner R, Zych-Krekora K, Wolter A, Kawecki A, Enzensberge C, Gulczyńska E, Respondek-Liberska M; International Prenatal Cardiology Collaboration Group. A new method to predict the need for a Rashkind procedure in fetuses with dextro-transposition of the great arteries. Ultrasound Obstet Gynecol. 2017 Mar 14. doi: 10

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The Polish National Registry for Fetal Cardiac Pathology (www.Orpkp.Pl) – Selected Data Analysis for 2013 and 2014 and Comparison wth Data from 2004 to 2012

congenital heart disease: implications for medical and psychological care in the current era. J. Paediatr. Child Health. 2011, 47(10): 717-722 16. Pinto NM, Keenan HT, Minich LL, Puchalski MD, Heywood M, Botto LD.: Barriers to prenatal detection of congenital heart disease: a population-based study. Ultrasound Obstet. Gynecol. 2012, 40(4): 418-425 17. Levi S.: Mass screening for fetal malformations: the Eurofetus study. Ultrasound Obstet. Gynecol. 2003, 22(6): 555-558 18. Materna-Kiryluk A.: Polish Registry of Congenital

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Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

Abstract

Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI). Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

Material and method: The study involved patients with renal and urinary tract congenital malformations treated at the Pediatric Nephrology Department from Tîrgu Mureș over a period of 6 years, who associated urinary tract infection.

Results: Out of the total of 432 patients with congenital malformations of the urinary system, 270 had had at least one or several episode(s) of urinary tract infections in their medical history. Vesico-ureteral reflux and obstructive lesions of the urinary tract were most frequently associated with urinary infections. During the time when no ultrasound screening had been performed, the malformation background was usually diagnosed at the time of the first urinary infection episodes.

Conclusions: The incidence of urinary tract infections in patients with renal and urinary tract congenital malformations depends on the type of the underlying malformation, and the time of diagnosis of the malformation background. Prevention of irreversible complications requires early diagnosis of the urinary system malformations that can be performed through ultrasound screening in the neonatal period.

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Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia

Prenatal and Postnatal Diagnostics Problems of the Most Common Surgical Congenital Malformations of Newborns in Latvia

The most common surgical congenital malformations of newborns in Latvia are esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), duodenal atresia (DA) and abdominal wall defects — gastroschisis (G) and omphalocele (O). Survival and quality of life of these patients depend on precise pre- and postnatal diagnosis, timely and qualified treatment, and presence of associated anomalies and prematurity. The aim of our study was to define prenatal and postnatal diagnostic problems of the most common surgical congenital malformations of new-borns in Latvia. Data concerning pre- and postnatal diagnostics from case-records of patients treated in Children's Clinical University Hospital from 1998 till 2008 with esophageal atresia (58 patients), duodenal atresia (20 patients) and congenital abdominal wall defects — gastroschisis (17 patients) and omphalocele (28 patients) were analysed. Results showed that in case of EA prenatal USG was performed in 62% of expectant mothers and in neither case suspicion about. EA was expressed. In all patients after birth diagnostic placement of nasogastric tube was performed. In approximately one-third catheter of bad opaqueness was used. Preoperative bronchoscopy and esophagoscopy in order to exclude upper tracheoesophageal fistula were performed in two patients from the analysed group. In 40% of cases DA was diagnosed in prenatal ultrasonography. G was diagnosed prenatally in 29.4%, O — only in 3.7%.

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Whole Genome Analysis by Array-Based Comparative Genomic Hybridization in Patients with Congenital Malformations

References Nikkila A, Kallen B, Marsal K. Fetal growth and congenital malformations. Ultrasound Obstet Gynecol 2007; 29(3): 289-295. Verrotti C, Caforio E, Gramellini D, Nardelli GB. Ultrasound screening in second and third trimester of pregnancy: an update. Acta Biomed 2007; 78(3): 229-232. Brent RL. Environmental causes of human congenital malformations: the pediatrician's role in dealing with these complex clinical problems caused by a multiplicity of environmental and

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Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay

Abstract

The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations. This article describes the results from analysis of 81 patients with congenital malformations (CMs), developmental delay (DD) and ID, in which we utilized the CytoChip ISCA oligo microarray, 4 × 44 k, covering the whole genome with a resolution of 70 kb. In the selected group of patients with CAs, 280 copy number variations (CNVs) have been proven, 41 were pathogenic, 118 benign and 121 of unknown clinical significance (average number of variations 3.5). In six patients with established pathogenic variations, our data revealed eight pathogenic aberrations associated with the corresponding phenotype. The interpretation of the other CNVs was made on the basis of their frequency in the investigated group, the size of the variation, content of genes in the region and the type of the CNVs (deletion or duplication).

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Perinatal Autopsy Evaluation of 2150 Autopsies in the Çukurova Region of Turkey / Çukurova Bölgesinden 2150 Perinatal Otopsi Olgusunun Değerlendirilmesi

, Brigati F, Gramellini D, Magnani C. Value of autopsy in renal malformations: Comparison of clinical diagnosis and post-mortem examination. Acta Biomed. 2011;82:230-43. 5. Kalyani R, Bindra MS, Mahansetty H. Congenital malformations in perinatal autopsy: A two-year prospective study. J Indian Med Assoc. 2013;111:89-93. 6. Hakverdi S, Guzelmansur I, Gungoren A, Toprak S, Yaldiz M, Hakverdi AU. Evaluation of fetal autopsy findings in the Hatay region: 274 cases. Turk Patoloji Derg. 2012;28:154-61. 7. Sankar VH, Phadke SR

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Missed Down Syndrome and Congenital Heart Defect in Prenatal Ultrasound (Us) - Malpractice or Not? Opinions of 12 Experts

Congenital Malformation’s of the Institute „Polish Mother’s Memorial Hospital” in Lodz between 1994-1999. Part I.Ginekol Pol 2002, 3 (73): 177-182 7. Krasoń A, Kaczmarek P, Janiak K, Piotrowicz M, Nowicki G, Respondek- Liberska M.: Usefulness of fetal echocardiography in the prenatal diagnosis of Down syndrome based on material from the Department for Diagnosis of Congenital Malformation’s of the Institute „Polish Mother’s Memorial Hospital” in Lodz between 1994-1999. Part II. Ginekol Pol 2002,73 (3): 183-187 8. Respondek-Liberska M

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