Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

Fragile-X syndrome, a frequent cause of inherited mental retardation, is characterised in almost all cases by a CGG-repeat expansion that is located within the FMR-1 gene and that prevents the expression of fragile-X mental retardation protein (FMRP). We describe a test that simultaneously allows the rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cases where protein expression is blocked, although there is no repeat expansion.

Assessment of serum levels of alpha-1-microglobulin, beta-2-microglobulin, and retinol binding protein in the fetal blood. A method for prenatal evaluation of renal function.

The concentrations of alpha-1-microglobulin, beta-2-microglobulin, and retinol binding protein were determined in fetal blood sampled by cordocentesis. The blood values of 126 fetuses without ultrasonographic findings of urinary tract abnormalities as controls were found to be independent of the week of gestation. In nine fetuses affected by a severe bilateral renal dysplasia or agenesis, elevated values of alpha-1-microglobulin but normal values of retinol binding protein were obtained.

[Cystic kidney dysplasia of variable expression--prenatal ultrasound, cytogenetic and patho-anatomic findings based on 3 case examples].

The present study reports on 3 cases of cystic renal dysplasias of Potter II type with variable characteristics and different clinical symptoms. The prenatal sonography revealed multicystically altered kidneys in the 19th to 33 rd week of gestation. Amniotic fluid cells and fetale lymphocytes were investigated to exclude possible chromosomal disorders.

[Dietary management of phenylketonuria patients using a personal computer].

The communication between the responsible physician and the family of the phenylketonuric patient requires an extended period of time in the treatment centre. Computer software was developed for the centre to ensure individual treatment of all patients according to the dietary recommendations. The program is additionally able to document all clinical data and to handle the correspondence with the family of the patient.

[Partial monosomy 21 or fetal alcohol embryopathy in a retarded boy?].

A male newborn showed dysmorphisms combined with a complex cerebral malformation and a growth retardation. Alcohol damage in utero was suspected to be the cause. A deletion 21q (mosaic) was found in the karyotype.