Prediction of fetal anemia by middle cerebral artery peak systolic velocity in pregnancies complicated by rhesus isoimmunization.

OBJECTIVES: To study the correlation of peak systolic velocity in the middle cerebral artery with hemoglobin concentration in fetuses at risk of anemia due to Rhesus isoimmunization. DESIGN: Peak systolic velocity of middle cerebral artery (MCA-PSV) was measured before 66 cordocentesis procedures in 20 isoimmunized fetuses. Reference values were derived from a study of 300 control fetuses. MCA-PSV values and hemoglobin concentrations were expressed as multiples of the median (MoM) for gestational age. The following hemoglobin concentration MoM thresholds defined degrees of anemia: mild, between 0.83 and 0.65; moderate, between 0.64 and 0.55; and severe, less than 0.55. Regression analysis was performed and receiver-operator-characteristic curves were constructed to determine the diagnostic accuracy of different thresholds of MCA-PSV for the prediction of moderate to severe anemia, either at the initial or repeat cordocentesis procedures. RESULTS: The mean (+/-SD) gestational age at cordocentesis was 28.5+/-4.6 weeks. Moderate to severe anemia was observed on 29 (44%) and hydrops on 27 (41%) occasions. MCA-PSV correlated weakly with hemoglobin concentrations. At threshold values 1.50 MoM, the sensitivity, specificity, and negative predictive value for moderate to severe anemia were 9.0, 100, and 48.0% at the initial cordocentesis procedures, and 44.0, 96.0, and 73.0% at repeat cordocentesis procedures, respectively. CONCLUSIONS: Although MCA-PSV is highly specific, negative values do not rule out fetal anemia. Further research is required before it can be recommended in clinical practice.

Human homologue for the mouse mutant disorganisation: does it exist?

We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wall, a small penis, absent left half of the scrotal sac, absent left testicle, anterior displacement of the anus, and multiple vertebral defects. The similarity between the proband's anomalies and those found in affected heterozygotes for DS support the possibility of a human homologue of the DS gene.

Apparently nonmosaic trisomy 22: clinical report and review.

We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.