Trisomy 22 with holoprosencephaly: a clinicopathologic study.

Trisomy 22 (47, XY, +22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of the other twin were normal. Abnormal prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency of the trisomic fetus. Delivery by cesarean section at 36 weeks gestation yielded a normal healthy female weighing 2,822 grams and a markedly macerated dysmorphic male weighing 642 grams. Holoprosencephaly was found in the trisomic fetus, an unusual feature in trisomy 22. Additional findings in this case are compared to other findings in the literature.

Sinusoidal fetal heart rate pattern during cardiopulmonary bypass.

A gravida 3, para 2 woman underwent an emergency mitral valve replacement at 24 weeks' gestation. A sinusoidal fetal heart pattern was recorded throughout cardiopulmonary bypass. This pattern persisted despite a pump flow maintained at 31 ml/m2 min and an intravenous infusion of phenylephrine to maintain the mean systemic arterial pressure at 50 mm Hg.

In utero diagnosis of congenital diaphragmatic hernia by CT amniography.

Congenital diaphragmatic hernia (CDH) was diagnosed using CT following intraamniotic contrast medium injection. Computed tomographic amniography may be helpful when the sonographic diagnosis of CDH is uncertain or prenatal surgical repair is being considered.

The effect of thigh muscle reconditioning by electrical stimulation on urodynamic activity in SCI patients.

Various forms of electrical stimulation are being used more frequently for bladder and muscle rehabilitation following spinal injury. Fifteen patients with spinal cord injury underwent a four to eight week period of thigh muscle reconditioning by surface electrical stimulation. The accumulated effects of this program on bladder function were assessed by urodynamic evaluation before and after the test period. Seven patients had beneficial changes of either an increase in bladder capacity and/or a decrease in bladder pressure. Six patients had a decrease in bladder capacity and/or an increase in bladder pressure, although two of these six patients had resolution of spinal shock. Two patients with detrusor areflexia had no changes in pressure or capacity. There was no change in the basic urodynamic patterns, only the parameters of bladder capacity and pressure. Increasing the use of electrical stimulation for rehabilitation of the spinal cord population might alter bladder function, although not consistently. One should, therefore, be aware of these changes when setting up such rehabilitation programs.

Pharmacokinetics of magnesium sulfate in the sheep model.

The pharmacokinetic parameters of MgSO4 were followed in the pregnant sheep model following intravenous dosages of MgSO4 comparable to those used in the therapy of the preeclamptic woman. Hemodynamic parameters, including maternal arterial pressure, central venous pressure, systemic vascular resistance, pulmonary artery pressure, heart rate, cardiac output, cardiac index, rate pressure product, stroke volume, stroke index, blood gases, fetal arterial pressure, heart rate, and blood gases, all remain stable during the infusion of MgSO4. Biochemical changes accompanying MgSO4 infusion in these doses were evaluated. It was found that the fetal serum levels of MgSO4 were approximately 70% of those in the mother. The MgSO4 was rapidly excreted into the maternal urine and 8.9% of the MgSO4 infused was cleared by 2 hr after the termination of the infusion. MgSO4 was also excreted by the fetus into amniotic fluid. It was found that a minimum dosage of 1 mg/kg/hr of magnesium was required to achieve a magnesium level in maternal serum at the lower limit of the therapeutic range of 4 mEq/L.

Neurofibromatosis and spontaneous hemothorax in pregnancy: two case reports.

Two cases of spontaneous hemothorax in pregnant women with neurofibromatosis are reported. Effects of pregnancy on the clinical course of neurofibromatosis are known to include worsening of cutaneous lesions, increased incidence of hypertension, and renal artery rupture. However, vessel wall rupture into the pleural cavity in areas of vascular neurofibromatosis is previously unreported. Contributing factors may include normal hemodynamic changes of the puerperium and pathological alterations of preexisting areas of neurofibromatosis. Because the incidence of vascular neurofibromatosis is not known and is difficult to diagnose, the serious morbidity and mortality encountered in this group place all pregnant patients with neurofibromatosis in a high-risk obstetric category.

Thromboembolic complications of pregnancy.

Physiologic changes in clotting parameters and venous flow during pregnancy increase the likelihood of deep venous thrombosis. Conditions that place the pregnant patient at a higher risk include a previous history of thromboembolic disease and surgery or bedrest for any reason during the pregnancy. In the high-risk patient, prophylactic therapy with low-dose heparin is advised beginning around the 34th week of pregnancy and continuing until 4-6 weeks after delivery. The clinical diagnosis of thrombophlebitis or pulmonary embolus is unreliable and should be confirmed objectively before therapy is started. During pregnancy, doppler ultrasound and impedance plethysmography should be the first-line diagnostic tests, but one should seek confirmation with venography if in doubt. The preferred method of therapy for the acute thrombolic event is full anticoagulation with continuous intravenous heparin from 7-10 days, followed by therapy with subcutaneous heparin for the remainder of the pregnancy and the puerperium, although there is considerable controversy regarding long-term therapy. Fibrinolytic agents have little place in pregnancy, and surgical therapy should be reserved for the critically ill patient only.

Placental passage and uterine effects of fentanyl.

Using the chronic maternal-fetal sheep preparation, 27 pregnant ewes were studied to determine the effects of intravenous fentanyl on maternal and fetal physiology, with particular reference to its placental passage, and its effects on uterine blood flow and uterine tone. Three doses of fentanyl were studied--50, 75, and 100 micrograms. Maternal and fetal arterial blood was collected for determination of fentanyl levels. All blood levels, both maternal and fetal, were normalized to the 50-micrograms dose. The maternal normalized blood levels were found to fit a biexponential equation describing a two-compartment open model. The half-life of the maternal elimination phase was 42 +/- 7.0 min with an overall elimination constant (K) of 0.21 min-1. Maternal plasma fentanyl levels decreased very rapidly in the first 10 min after injection, at which time only 9% of the peak value remained. Fentanyl was detectable in fetal blood as early as 1 min and levels peaked at 5 min. Once equilibrium was established between maternal and fetal blood, the maternal levels remained 2.5 times those of the fetal level from 5 min to 60 min after drug injection. Both maternal and fetal drug levels declined in an approximately parallel fashion. No significant deleterious changes were seen in any maternal or fetal cardiovascular or acid-base parameters, and uterine blood flow and uterine tone were also unaffected (P greater than 0.05).

The maternal and fetal cardiovascular effects of epidural morphine in the sheep model.

Interest in the use of epidural narcotics for analgesia has been widespread since the demonstration of opiate receptors in the spinal cord in the mid nineteen-seventies. Recently, several studies have attempted to evaluate the effectiveness of epidural narcotics for the relief of pain in labor and after cesarean section. Using the chronically catheterized maternal-fetal sheep model, we injected 5 mg of preservative-free morphine into the epidural space. No statistically significant changes were observed, neither in maternal or fetal arterial pressure and acid-base status, nor in maternal central venous pressure, systemic and pulmonary vascular resistance, cardiac output, or intrauterine pressure (p greater than 0.05). There was a significant, although small, decrease in maternal heart rate (8%) and uterine blood flow (9%) at 120 minutes (p less than 0.05), and then a return to control values. The maternal levels of morphine peaked at 15 minutes (29 ng/ml) and the fetal levels of morphine peaked at 90 minutes (3 to 4 ng/ml). We conclude that the injection of 5 mg of morphine into the maternal epidural space has no adverse effect on mother or fetus in the sheep model.

Malignant lymphoma of the small intestine in multiple family members: association with an immunologic deficiency.

Four cases of malignant lymphoma all in male members of a family are described. In three of the affected individuals the primary tumor arose in the small intestine and in the other the site of origin was the retroperitoneum. Immunologic studies were carried out on the two surviving patients and on all other living members of their families. Low levels of immunoglobulins were found in one of the affected boys. During a recurrence of the tumor, the other boy showed temporary partial impairment of cellular immunity as measured by failure to react to delayed hypersensitivity skin tests, although lymphocyte transformation studies were normal. Nine months after treatment was completed his response to skin tests was normal. No immunologic defect was detected in the studies of the non-involved family members. The histologic appearance of the tumors was similar in the tissue sections which were available for review from three of the four patients; the tumor was classified as a malignant lymphoma, diffuse, mixed cell type (lymphocytic and histiocytic).

Practicability of ultrasonography for assessing fetal age and weight in early pregnancy.

This study was conducted to evaluate (1) the feasibility and accuracy of the B-Scan technique for measuring biparietal diameter (BPD) in utero, (2) the accuracy of the B-Scan technique for predicting fetal age and weight, and (3) parameters of fetal growth in pregnancies of less than 21 weeks's gestation. Forty-one subjects underwent diagnostic ultrasonography before induction of therapeutic abortion with Prostaglandin F2alpha. Following abortion, fetal crown-to-rump length (CRL), crown-to-heel (CHL), BPD, and fetal weight were measured directly. After 13 menstrual weeks' gestation the BPD could be accurately measured by ultrasound. The relationship of BPD to gestational age and fetal weight and the indices of fetal growth as measured by the CRL and CHL were established. It is concluded that ultrasound is a useful adjuvant to clinical assessment of fetal age and weight in patients form 13 to 21 menstrual weeks' gestation.