Four phases of checks for exclusion of umbilical cord blood donors.

AIM: The aim of this study was to analyse umbilical cord blood (UCB) collection over 1 year between October 2008 and September 2009, seeking ways to improve the number of suitable banked UCB units. Four phases of the process were investigated, from the consent form to the banking procedure, paying attention to the discarded UCB units. MATERIAL AND METHODS: We recruited couples at 35 weeks of gestation and took an accurate history, focusing on genetic, immunological and infectious diseases. We collected UCB from pregnant women who delivered vaginally or by Caesarean section between the 37-41(+6) weeks of gestation. Some units were discarded on the basis of the patients' history, obstetric events or biological criteria. In utero collection was the preferred method of collection. RESULTS: During the study period, between October 2008 and September 2009, there were 1,477 deliveries in our unit. The number of couples interested in UCB donation was 595 (40.2%-595/1,477). We collected 393 UBC units. We excluded 122 patients at the phase of the history taking, counselling and informed consent (first phase check). Of the 393 units collected, 162 (41.3%) were banked whereas 231 (58.7%) were discarded because they did not fulfil biological criteria (third phase check). The volume of UCB units collected after Caesarean section was greater than the volume of units collected after vaginal delivery (95.4 mL versus 85.0 mL, respectively; p <0.01). The UCB units collected after vaginal delivery contained a higher number of total nucleated cells compared to the units collected after Caesarean section (970x10(6) cells versus 874x10(6) cells, respectively; p=0.037). None of the banked UCB units was discarded at the clinical check 6 months after delivery (fourth phase check). CONCLUSIONS: Our study shows that strict observance of each of the checks and the collection strategy is important to guarantee the safety of the UCB units and to maximise the cost-benefit ratio. After the appropriate checks we banked UCB units from only 27.2% (162/595) of the couples who gave consent to the procedure and from only 11% (162/1,477) of all the deliveries in the 12 month study period, as 59.8% of couples were not properly informed about UCB donation.

Septal rupture with right ventricular wall dissecting haematoma communicating with left ventricle after inferior myocardial infarction.

We report the case of an 86-year-old man referred for abdominal pain and ECG signs of inferior myocardial infarction. Transthoracic, transoesophageal and contrast echocardiographs showed a septal intra-mural haematoma, dissecting the right ventricle wall and partially obliterating the right ventricle lumen. A patent communication with left ventricle with extensive wall thrombosis was present at Doppler examination within dissecting haematoma. Although the patient refused any surgical treatment, a 3-month follow-up was uneventful.

Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.

Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally. The diagnosis of level III mosaicism was established in cultured amniotic fluid cells (22.5%). At 22 weeks gestation, micrognathia and hypotelorism were suspected at 2-D sonography, and confirmed at 3-D examination. In addition, 2-D US showed cerebellar hypoplasia associated with borderline ventriculomegaly (confirmed at magnetic resonance imaging, MRI), spine deformity (hemivertebra), and a complete atrioventricular septal defect (AVSD). The pregnancy was terminated. Trisomy 4 mosaicism was confirmed in placental and fetal skin cultured cells. The cord blood karyotype was normal. Molecular analysis excluded uniparental disomy of chromosome 4, and indicated that the trisomy 4 was of maternal meiotic origin. In presence of chromosome 4 mosaicism, accurate fetal sonography and echocardiography are mandatory. Low level mosaicism and normal echographic examinations seem to be associated with good prognosis. In postnatal life, chromosome 4 mosaicism should be suspected, and cytogenetic analysis proposed of further tissues (i.e., skin), in presence of craniofacial dysmorphism, cardiac defects, and abnormal hands/feet, even if mental development is appropriate or only slightly impaired.