Prenatal Diagnosis of Congenital Defects

2006 ◽  
pp. 165-165
Author(s):  
JM Carrera ◽  
A Muñoz ◽  
M Kos ◽  
MA Rodríguez ◽  
E Scazzocchio ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Defects

scholarly journals EFFICACY AND SENSITIVITY OF PRENATAL AND POSTNATAL ULTRASOUND SCREENING OF CONGENITAL DEVELOPMENTAL ANOMALIES OF KIDNEYS IN SLOVAKIA

2021 ◽  
Vol 74 (3) ◽  
pp. 450-454
Author(s):  
Oleksandr Ye. Dobrovanov
Keyword(s):  
Prenatal Diagnosis ◽  
Statistical Data ◽  
Slovak Republic ◽  
Congenital Defects ◽  
Ultrasound Screening ◽  
Urinary System ◽  
Developmental Anomalies ◽  
Sonographic Screening ◽  
Low Sensitivity ◽  
Developmental Malformations

The aim: To compare the effectiveness and sensitivity of prenatal and postnatal diagnostics in the diagnosis of congenital malformations of the urinary system in the Slovak Republic. Materials and methods: Data of postnatal sonographic screening of congenital developmental malformations of the urinary system in Slovak Republic including 2017 were identified and updated using a questionnaire survey, 38,496 newborns were involved. Statistical data on the proportion of prenatal diagnosis for the years 1995, 2000, 2005, 2008 and 2013-2016 were provided from the National Register of Congenital Defects. The chi2-test and t-test were applied to assess the sensitivity differences. Results: The study showed a low sensitivity of prenatal diagnosis with its maximum in 2016, reaching 32.3% and a minimum in 2005-2008 (8.0 – 8.4%). The sensitivity of postnatal diagnostics for selected years has always been a stable indicator and reaches 99.6%. Conclusions: Available statistical data confirm that prenatal diagnostics of congenital developmental malformations of the urinary system in the Slovak Republic is not perfect. Our work underlines the importance, or we should rather say inevitability of postnatal ultrasound screening for congenital developmental anomalies in the kidneys.

scholarly journals Evaluation of prenatal diagnosis of congenital defects by screening ultrasound, in Cali, Colombia.

2014 ◽  
pp. 32-38 ◽  
Author(s):  
Wilmar Saldarriaga-Gil ◽  
Fabian Andres Ruiz-Murcia ◽  
Andres Fandiño-Losada ◽  
Manuel Enrique Cruz-Perea ◽  
Carolina Isaza-de-Lourido
Keyword(s):  
Intensive Care ◽  
Health Insurance ◽  
Prenatal Diagnosis ◽  
Intensive Care Units ◽  
Neonatal Intensive Care ◽  
Maternal Education ◽  
Demographic Data ◽  
Prenatal Ultrasound ◽  
Neonatal Intensive Care Units ◽  
Congenital Defects

Introduction The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis. Patients and methods It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, socio-demographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done. Results 173 NB were included, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS). Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41) and 35 to 47 years (OR: 5.24), with low levels of maternal education (OR: 8.70) and with only a PNUS compared to having two or more PNUS (OR: 4.00). Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51). Among mothers who had PNUS, screening sensitivity of CDDPU after the 19thgestational week was 79.2%. Conclusions The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia.

scholarly journals F100Dopplerometry at the prenatal diagnosis of congenital defects

2000 ◽  
Vol 16 ◽  
pp. 59-59
Author(s):  
J. Santavy ◽  
M. Lubusky ◽  
P. Polak ◽  
J. Hyjanek
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Defects

scholarly journals Gastroschisis and Omphalocele: A Case report

2018 ◽  
Vol 28 (2) ◽  
pp. 64-65
Author(s):  
Mosammat Nargis Shamima ◽  
Mohd Alamgir Hossain ◽  
Shahela Jesmin ◽  
Nargis Jahan ◽  
Noshin Tasnim
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Abdominal Wall ◽  
Developing Country ◽  
Maternal Serum ◽  
Prenatal Ultrasound ◽  
Congenital Defects ◽  
Antenatal Visit ◽  
Abdominal Wall Defects ◽  
Serum Alpha Fetoprotein

Fetal gastroschisis and omphalocele are congenital defects of abdominal wall that are often diagnosed by prenatal ultrasound done for routine screening or for obstetric indications such as evaluating an elevated maternal serum alpha fetoprotein (AFP).Regular antenatal checkup and Prenatal ultrasound could potentially identify the overwhelming majority of abdominal wall defects and accurately distinguish omphalocele from gastroschisis. But in a developing country like Bangladesh neglected patients fail to seek antenatal visit and prenatal diagnosis. Here we report a case of gastroschisis and omphalocele diagnosed incidentally during last trimester.TAJ 2015; 28(2): 64-65

The Sonographic Prenatal Diagnosis of Congenital Defects of the Anterior Abdominal Wall Based on our Own Study of Twin Pregnancies – Gastroschisis

1997 ◽  
Vol 46 (02) ◽  
pp. 101-104 ◽  
Author(s):  
W. Malinowski ◽  
I. Biskup
Keyword(s):  
Prenatal Diagnosis ◽  
Abdominal Wall ◽  
Anterior Abdominal Wall ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Congenital Defects ◽  
Twin Pregnancies

AbstractThe authors present gastroschisis which occurred in a surviving fetus after the co-twin demise in a monochorionic pregnancy. They analyze the problems of prenatal ultrasound diagnosis of gastroschisis stressing the adequate planning of delivery with necessary additional diagnostic and therapeutic efforts.

scholarly journals MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS

2019 ◽  
Vol 1 ◽  
pp. 39-47 ◽  
Author(s):  
Yevheniya Sharhorodska ◽  
Nadiya Helner ◽  
Natalia Prokopchuk ◽  
Halyna Makukh
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Biochemical Markers ◽  
Congenital Heart ◽  
Fetal Heart ◽  
Heart Diseases ◽  
First Trimester ◽  
Congenital Defects ◽  
Medical Genetic

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.

scholarly journals Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption

2021 ◽  
Author(s):  
Yujun Liu ◽  
Xu Zhi
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Early Stage ◽  
Hypogonadotropic Hypogonadism ◽  
Genetic Diagnosis ◽  
Kallmann Syndrome ◽  
Hereditary Diseases ◽  
Congenital Defects ◽  
Unilateral Renal Agenesis ◽  
Congenital Hypogonadotropic Hypogonadism

AbstractKallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients. Because of the phenotypic heterogeneity, genetic diagnosis become increasingly valuable to distinguish KS from other disorders including normosmic congenital hypogonadotropic hypogonadism, constitutional delay of growth and puberty, CHARGE syndrome, and functional hypogonadotropic hypogonadism. Application of next-generation sequencing has promoted the discovery of novel pathogenic genes in KS pedigrees. Prenatal diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. However, pregnant women may suffer from physical and psychological distress when fetuses are diagnosed with congenital defects. Preimplantation genetic testing (PGT) is a prospective approach during the in vitro fertilization process that helps to interrupt transmission of hereditary diseases to offspring at an early stage. Thus, genetic testing and counseling are recommended to KS patients with family histories, prenatal diagnosis and PGT are considered to be useful options.

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