Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency.

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.

Third trimester resolution of cystic hygroma and pleural effusion in a fetus with Turner syndrome.

We report a case of third trimester spontaneous resolution of a nuchal cystic hygroma with pleural effusion in a fetus with Turner syndrome (45,X). The neonatal health of the infant was good. Our case description exemplifies difficult counseling issues involved with the detection of a cystic hygroma and provides documentation of resolution late in pregnancy.

Consumption of food, body weight, perineal colour and levels of progesterone in the serum of cyclic female chinchillas.

Venous blood of eight cyclic female chinchillas (Chinchilla laniger) was collected twice weekly during all stages of the oestrous cycle and levels of progesterone were determined by radioimmunoassay. Consumption of food, body weight and perineal colour were also monitored in 25 cyclic female chinchillas. Cyclic trends were significant for feed consumption (P < 0.01), colour of the perineum (P < 0.001) and body weight (P < 0.001). Analysis of data used a standardized cycle of 36 days which was arranged according to vaginal perforation. This was subdivided into six periods with 6 days in each. Values of progesterone in the serum ranged from 0.07 to 6.27 ng/ml (n = 64 samples, each in duplicate), and the period of 6 days with the lowest mean progesterone value was that which included the first day of vaginal perforation. The pattern of fluctuations of progesterone resembled that of another hystricomorph rodent, the guinea-pig.

Adaptation of the orbital sinus bleeding technique to the chinchilla (Chinchilla laniger).

The orbital sinus bleeding technique was used to obtain 1-3 ml samples of venous blood from chinchillas (Chinchilla laniger) within 1 minute. By monitoring food intake and body weight, this technique was shown to have no detrimental effects on the general health of the animals, but serial samples taken twice weekly over a period of 2 months did induce some degree of hemorrhage or occasional corneal opacity in some animals.