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Early Prenatal Diagnosis (early + prenatal_diagnosis)

Distribution by Scientific Domains

Life Sciences	83%

Selected Abstracts

Simple Repair of Aortico-Left Ventricular Tunnel in a Newborn with Early Prenatal Diagnosis

JOURNAL OF CARDIAC SURGERY, Issue 4 2008
Roland Henaine M.D.
Early recognition of ALVT by antenatal ultrasound allows prompt neonatal management and avoidance of harmful aortic valve regurgitation. The present case is unique because of the conjunction of very early antenatal diagnosis, prompt postnatal management, early surgical repair on the sixth day of life, direct closure from the aorta of the aortic orifice only, and optimal postoperative course with excellent mid-term result. [source]

Early prenatal diagnosis of concordant posterior urethral valves in male monochorionic twins

PRENATAL DIAGNOSIS, Issue 1 2006
G. M. Maruotti
Abstract The association between monozygotic twins and posterior urethral valves (PUV) in postnatal life has been thoroughly described. In the fetus, the prenatal recognition of PUV is feasible. However, it has been repeatedly reported in singletons but never in monochorionic twins. We describe two cases of early prenatal diagnosis of concordant PUVs in monochorionic twins. In one of the sets, the expression of the disease was different for each twin. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

HUMAN MUTATION, Issue 4 2001
Luigi D. Notarangelo
Abstract During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3 -gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which share the common gamma chain. Defects of this gene cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T,B+ SCID). Herewith, we present molecular information on the first 27 unique mutations identified in the JAK3 gene, including clinical data on all of the 23 affected patients reported so far. A variety of mutations scattered throughout all seven functional domains of the protein, and with different functional effects, have been identified. Availability of a molecular screening test, based on amplification of genomic DNA, facilitates the diagnostic approach, and has permitted recognition that JAK3 deficiency may also be associated with atypical clinical and immunological features. Development of a structural model of the JAK3 kinase domain has allowed characterization of the functional effects of the various mutations. Most importantly, molecular analysis at the JAK3 locus results in improved genetic counseling, allows early prenatal diagnosis, and prompts appropriate treatment (currently based on hematopoietic stem cell transplantation) in affected families. Hum Mutat 18:255,263, 2001. © 2001 Wiley-Liss, Inc. [source]

Early prenatal diagnosis of concordant posterior urethral valves in male monochorionic twins

Sonography in prenatal diagnosis of congenital adrenal hyperplasia

PRENATAL DIAGNOSIS, Issue 8 2004
Julien Saada
Abstract Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21-hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt-wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second-trimester scan in the absence of a family history. Copyright © 2004 John Wiley & Sons, Ltd. [source]

Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis

PRENATAL DIAGNOSIS, Issue 4 2004
Carole Goumy
Abstract Objectives Early diagnosis of unbalanced chromosomal abnormalities can be crucial in minimizing the trauma caused by an elective abortion. Chorionic villus sampling (CVS) can be performed from 9 weeks of gestation. However, two major problems are encountered in fetal karyotyping using cultured cells from chorionic villi: the relatively slow growth of these cells in culture, which delays the diagnosis, and the occurrence of maternal cell contamination (MCC). With FISH, a result can be obtained within 24 h, and, as no cell culturing is involved, the problem of MCC is minimized. Methods Thirty-two women undergoing CVS between 9 and 12 weeks of gestation were offered FISH analysis in addition to the standard chromosome analysis. Results FISH was informative in all of the cases tested. Eleven aneuploidies were detected in cases of hygroma or abnormal nuchal translucency and two out of four fetuses from parental translocation were unbalanced. The decision to perform early termination of these chromosomally abnormal pregnancies was based on FISH results and ultrasound abnormalities, without waiting for karyotype results. Conclusion The present study confirms that the association of FISH and CVS allows a rapid and early prenatal diagnosis, and emphasizes that this association is of great benefit in cases of known parental balanced translocation or when hygroma is detected by ultrasonography. Copyright © 2004 John Wiley & Sons, Ltd. [source]