Search results for "Amniocentesis"

Diagnostic problems and postnatal follow-up in congenital toxoplasmosis

2007

Aim. In order to assess the consequences of different clinica] approaches in the prenata] management of congenital toxoplasmosis, we retrospectively reviewed 58 pregnant women with Toxoplasma seroconversion and prospec­ tively enrolled their 59 infants, referred to us from 1999 to 2004. Metbods. Data on clinica!, laboratocy and de­ mographic characteristics of the pregnant women were collected. Their children were entered intoa 48-month follow-up progcamme in which clinica , instrumental, ophthalmo­ logic and serologic evaluations were carried out at birth, at 1, 3, 6, 9, 15, 18, 24, 36 and at 48 months of life. Paediatric treatment with Spiramycin alone or alternated with Pyrime­ thamine-S…

Prenatal diagnosis of congenital cystic adenomatoid malformation using three-dimensional inversion rendering: A case report

2008

We report a case of a congenital cystic adenomatoid malformation of the lung (CCAM). At 12 weeks of gestation, an echogenic lung associated to a hydrothorax was detected. Despite the results of the combined test that informed of a high risk of chromosomopathy, normal karyotype was confirmed after an amniocentesis. The three-dimensional ultrasound inversion mode depicted all the cysts within the fetal lungs as opaque areas that were seen concurrently together, which was compatible with CCAM. After parental counseling, the patient opted to terminate the pregnancy at 18 weeks. Pathological analysis of the lungs confirmed the diagnosis of a CCAM type II. The recent advent of the three-dimension…

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

2005

Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993–2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies (1/1492), including 14 euchromatic SMCs (48.2%). Follow-up studies were available for 24 cases. Nine pregnancies (37.5%) were terminated; two children (8.3%) were born with Pallister–Killian syndrome …

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Fetal presentation of Morquio disease type A.

1992

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsu…

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: an interim report.

1989

In a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal diagnosis of the disorder. The following tissues from the fetus at risk were investigated by electron microscopy and were found to be free of fingerprint profiles and curvilinear bodies, typical for JNCL: uncultivated amniotic fluid cells, lymphocytes isolated from fetal blood, and fetal skin biopsy specimens. The child was born at the 34th week of gestation and was clinically normal at the age of 15 months. Postnatally, lymphocytes (isolated at the age of 6 and 15 months) and skin tissue (taken at the age of 15 months) were found to be morphologically normal. It is h…

PRENATAL DIAGNOSIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCID) BY FLOWCYTOMETRIC INVESTIGATION OF FETAL BLOOD

1987

Prenatal diagnosis of SCID has until now been limited due to the inability of obtaining sufficient fetal blood volumes for immunological investigation. - We report the diagnosis of x-linked SCID at 19 weeks of gestation by using 200μl fetal blood for flowcytometrio evaluation. Amniocentesis was performed in the 17th week of pregnancy on a 36 year old woman with positive family history for X-linked SCID. chromosome analysis revealed a normal male caryotype. To confirm the suspected diagnosis of SCID a fetal blood sample was taken by puncturing the umbilical cord vein under sonographic control at 19 weeks of gestation. 300μl were used to perform chromosome analysis, the remaining 200μl were p…

PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE–GALACTOSE MALABSORPTION

1996

Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na + -dependent glucose/galactose cotransporter (SGLTI) that accounts for the defect in sugar absorption. Prenatal screening for GGM was performed in two subsequent pregnancies in this large consanguineous family. The first exon of the SGLTI gene was PCR-amplified from genomic DNA and screened for the presence of the D28N mutation by EcoRV restriction digestion. The proband's sibling was heterozygous and a cousin was not a carrier of the D28N mutation.…