Search results for "Prenatal diagnosis."

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

2013

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…

1994

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.

Monochorionic twin pregnancy: screening, pathogenesis of complications and management in the era of microinvasive fetal surgery

2010

Objective The management of monochorionic (MC) twin pregnancies varies in different medical centers. This paper compares screening methods to predict the complications of the MC twin pregnancy and different treatment methods. Methods We performed a literature search without language restriction in Cochrane library and PubMed (1970-2009). Case series and cohort screening studies, pathogenesis and management of complications of MC pregnancy were included. Results Elevated risk for intrauterine fetal death (IUFD) and twin-to-twin transfusion syndrome (TTTS) can be detected sonographically. Monitoring of MC pregnancies at increased risk and regular training sessions for the operating team combi…

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

1995

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.

2008

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

2012

Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Methods Two different questionnaires were produced. Results Fifty geneticists fil…

Prenatal diagnosis of sacrococcygeal teratomas by two- and three-dimensional ultrasound

2002

We suspected two fetuses of having sacrococcygeal teratomas following initial two-dimensional ultrasound scanning at 18 and 22 weeks' gestation. The fetuses were then scanned with three-dimensional multiplanar surface and three-dimensional orthogonal planar ultrasound to establish a definitive diagnosis. Although we made a presumptive diagnosis in both cases after initial two-dimensional scanning, with three-dimensional ultrasound we were better able to define the degree of involvement of the sacrum and other pelvic structures of prognostic importance. Copyright © 2002 ISUOG

Fetal meconium psedocyst spontaneosly disappeared after birth. A Case report

2010

Congenital \textittoxoplasma infection: monthly prenatal screening decreases transmission rate and improves clinical outcome at age 3 years

2013

Background. Toxoplasma infection during pregnancy exposes the fetus to risks of congenital infection and sequelae that depend heavily on gestational age (GA) at time of infection. Accurate risk estimates by GA are necessary to counsel parents and improve clinical decisions. Methods. We analyzed data from pregnant women diagnosed with acute Toxoplasma infection in Lyon (France) from 1987 to 2008 and assessed how the risks of congenital toxoplasmosis and of clinical signs at age 3 years vary depending on GA at the time of maternal infection. Results. Among 2048 mother-infant pairs, 93.2% of mothers received prenatal treatment and 513 (24.7%) fetuses were infected. Because of a significant red…

Unilateral multicystic dysplastic kidney in infants exposed to antiepileptic drugs during pregnancy

2007

Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of the most severe expressions. Although prenatal ultrasound (US) examination has increased the prenatal diagnosis of MCDK, the pathogenesis is still unclear. We report on four cases of MCDK in infants of epileptic women treated with AEDs during pregnancy. From October 2003 to June 2006, we observed four infants with unilateral MCDK bo…