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Mosaicism of Trisomy of 16 Pairs of Chromosomes with Partial Situs Inversus and Levocardia Observation of Extremely Rare Anomaly from 1st Trimester to Neonatal Period- Case Report

Abstract

This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.

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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

Abstract

Introduction:

Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry

Materials and methods:

Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations.

Results:

101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations.

Conclusions:

1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation.

2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations.

3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities.

4. Biochemical exams had a positive result in only one case of Down Syndrome.

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Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review

-121 11. Ter Heide H, Schrander-Stumpel CTRM, Delhass T, Pals G. Neonatal Marfan Syndrome: clinical raport and review of literature. Clin Dysmorphol 2005, 14: 81-84 12. http://cardiology.blueprintgenetics.com/panels/marfan-syndrome-panel/ 13. Koenigsberg, M, Factor S, Cho S, Haskowitz A, Nitowsky H, Morecki R. Fetal marfan syndrome: Prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions. Prenat Diagn 1981, 1: 241-247 14. Chaoui R, Bollmann R, Göldner B, Heling KS, Tensstedt C. Fetal

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