Prenatal diagnosis of mosaicism identified in amniotic fluid cell cultures.

Chromosomal mosaicism in prenatal diagnosis is an important problem to be solved immediately and the probable phenotypic reflections should be explained to the family. We report two numerical and two structural mosaicisms detected in amniocyte cultures. The first fetus had a 47,XY,+mar[10]/46,XY[10] karyotype. The marker chromosome was shown to be derived from chromosome 15 by FISH method. The newborn had intrauterine growth retardation and cerebral thrombosis and died at the 29th day of age. The second fetus had a 45,X[4]/46,XX[26] karyotype. The parents refused cordocentesis and decided to terminate pregnancy in the 21st week. The third case, presented with bilateral large choroid plexus cysts, had a 46,XX, dup(1)(q22-q32)[9]/46,XX[21] karyotype. The parents' karyotypes were normal and the pregnancy was aborted in the 23rd week of gestation. The second structural abnormality was reported as 46,XX,t(6;11)(q23; p13)[3]/46,XX[20]. The mosaicism was detected in only one flask. The parents decided to continue pregnancy and cordocentesis could not be performed due to the fetal and placental position. The baby was born at term. Peripheral blood lymphocyte culture resulted in a 46,XX normal karyotype. Information and risks were explained to all families during genetic counseling. Mosaicism in prenatal diagnosis needs both detailed examination and follow up, since clinical findings depend on the type of abnormality.

Delivery of healthy infant during hemodialysis session.

Acute renal failure secondary to bilateral ureteral obstruction in pregnancy is rare. We describe a case of acute renal failure secondary to bilateral ureteral obstruction. A 27 year-old woman at 35 weeks' gestation was referred to our hospital with a diagnosis of acute renal failure. The patient had been well until four days earlier, when she developed an abrupt anuria. She had been administrated excessive amounts of fluids, and unresponsive to parenteral furosemide. She had mild pitting oedema and an S3 gallop with crackles in the lungs. The uterus was enlarged to the expected size with a cervical dilatation of 2 cm in diameter. Her serum creatinine level was 7.0 mg/dl. Renal ultrasound showed bilateral hydronephrosis of severe degree. The patient was immediately hemodialyzed for advanced renal failure with hypervolemia, and a healthy infant was born at the third hour of the HD session without any complication. On the next day, her urine volume was 200 ml/day and serum creatinine level was 6.8 mg/dl. For this reason, the patient underwent cystoscopy and ureteral stents were inserted bilaterally. There was no evidence of ureteral stones or obstructive lesions. After the stenting, the urine volume increased and serum creatinine was decreased gradually to normal level at the seventh day of postpartum. Two weeks later ureteral stents were removed and both infant and patient were completely healthy. To the best of our knowledge, this is the first case of delivery of an infant during a haemodialysis session.