No abstract

We can confirm the presence of an inverse correlation between MCA PSV measurements and hemoglobin values in fetuses at risk for anemia due to maternal blood group alloimmunization and fetal parvovirus B19 infection. The MCA PSV is a reliable method for the prediction of anemia not only in fetuses before the first intrauterine transfusion, but also in those which have undergone one or more transfusions, with good sensitivity and specificity in both groups of fetuses at risk.

K E Y W O R D S: CASE REPORTA 32-year-old woman, gravida 2 para 1, was referred to our unit in the 23 rd week of pregnancy because of intrauterine growth restriction (IUGR) and oligohydramnios. Gestational age was confirmed by sonographic biometry in the first trimester. The fetal size was below the 3 rd percentile, without any fetal anomaly detected; the amniotic fluid volume was slightly reduced and the biophysical profile was normal. Maternal TORCH serology was negative. Fetal chromosomal abnormalities were excluded by karyotyping following chorionic villus sampling.On Doppler examination, the uterine arteries were normal and placental insufficiency was excluded. Umbilical vein (UV) and fetal middle cerebral artery (MCA) Doppler measurements were normal, but the ductus venosus (DV) showed increased pulsatility and reversed flow during atrial contraction (Figure 1). An abnormally large vessel originating from the right side of the intrahepatic UV with pulsatile flow could be observed (Figure 2). The dimensions of the vessel did not change during the course of the pregnancy. No sign of heart failure was detected.Weekly ultrasound and Doppler examinations were performed; fetal size was consistently below the 3 rd percentile, UV and MCA Doppler remained normal, and the pathological DV Doppler remained almost unchanged until delivery, although there were transient small improvements. The amniotic fluid index remained around the 5 th percentile until 30 weeks' gestation, and then normalized.Because of the growth restriction and the atypical DV Doppler findings, an elective Cesarean delivery was performed in the 35 th week. A small but apparently healthy female newborn was transferred to the neonatal intensive care unit (NICU) to clarify the nature of the vessel anomaly of the liver. Postnatal ultrasound examination confirmed the vascular anomaly with the diagnosis of congenital portosystemic shunt Type 3, as defined by Park et al., with aneurysm 1 .The neonatal course was uneventful and asymptomatic, and the baby developed neither hyperammonemia nor hypergalactosemia. The shunt closed spontaneously during the first 3 months of postnatal life and the infant's size increased to within the normal range in a short period of time. DISCUSSIONCongenital intrahepatic portosystemic shunts (IPSS) are abnormal vascular communications within the liver between branches of the portal vein and the hepatic

We describe the case of a 6-month-old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12, del(12)(p12.1p12.3). Molecular cytogenetic analysis with bacterial artificial chromosomes (BAC) clones was used to refine the extent of the deletion. The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p.

Antenatal HIG treatment was well tolerated and not associated with prematurity or decreased birth weight. HIG application might have a favorable effect on the clinical course of congenital CMV infection.