Prenatal evaluation of a de novo X;9 translocation.

A case of X-autosome translocation was diagnosed prenatally [46,X, t(X;9)(p21.3 approximately 22.1;q22]. We describe the use of fluorescence in situ hybridization (FISH) to estimate the integrity of the Duchenne muscular dystrophy (DMD) gene. X-inactivation studies were used as well to assess the probability of phenotypic abnormalities associated with functional partial disomy X and monosomy 9.

Effect of adjustment of maternal serum alpha-fetoprotein levels in insulin-dependent diabetes mellitus.

Our objective was to determine the effect of the 20% upward adjustment of maternal serum alphafetoprotein (MSAFP) in patients with insulin-dependent diabetes mellitus (IDDM) on the number of patients that would be classified at increased risk for pregnancy complicated by either Down syndrome (DS) or neural tube defect (NTD). We retrospectively evaluated a database containing 63,110 patients who underwent multiple serum marker screening between 14 and 22 weeks gestation; 620 patients with IDDM had measurements of MSAFP of which 479 also had measurements of beta-HCG, allowing calculation of DS risk. Increased NTD risk was defined as MSAFP >2.5 MOM while increased DS risk was defined as a calculated risk > or =1/270. One IDDM patient delivered an infant with a NTD; it was not detected on serum screening. No infants were born with DS. Of the 620 patients with MSAFP determinations, 9 had values >2.5 MOM before adjustment. After upward adjustment, 7 additional patients were identified. Sixteen patients were identified at increased risk for DS before and after adjustment. Our data suggest that the 20% upward adjustment of MSAFP increases by 78%, the number of patients who would require further evaluation for NTD's. Although we were able to identify 620 women with IDDM who underwent serum screening for NTD, the low prevalence of NTD's did not allow us to demonstrate an increased detection rate. The effect of upward adjustment of MSAFP on the number of patients categorized at increased DS risk appears to be minimal.

Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report.

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.

Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: case report.

Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associated with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestation demonstrated growth parameters consistent with 20 weeks' gestation; a 7-mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening. The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gestation. The infant died neonatally.

Determinants of parental decisions after the prenatal diagnosis of Down syndrome.

We evaluated demographic factors and factors specific to the current pregnancy, and their relationship to the decision to continue or terminate a pregnancy after prenatal diagnosis of Down syndrome. All cases of Down syndrome (DS) managed at a tertiary care center from 1989-1997 were retrospectively analyzed with respect to maternal age, parity, gestational age, sonographic findings, insurance status, and race. Of 145 cases of trisomy 21, 19 (13.1%) of women chose continuation of pregnancy, while 126 (86.9%) chose termination. There were no differences between groups in parity, sonographic findings, insurance status, or race at the time of diagnosis. However, patients who chose termination were significantly older and earlier in gestation than those electing to continue their pregnancy. When Down syndrome is diagnosed prenatally, the choice of termination is related to maternal age and gestational age, but only gestational age is a significant independent predictor of pregnancy termination.

Fetal gender impact on multiple-marker screening results.

Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) are used in combination with maternal age to calculate the risk for Down syndrome (DS) in pregnancy. Increased levels of hCG and decreased levels of MSAFP and uE3 are consistent with an increased risk for DS. We retrospectively evaluated second-trimester maternal serum marker levels in a large cohort of patients with known normal outcomes and documented fetal gender. These included 15,428 patients who had MSAFP measurements, 11,428 patients with both MSAFP and hCG, and 6,090 patients with all three markers including uE3. MSAFP levels in patients with female fetuses were consistently lower than those with males. Conversely, hCG was higher in pregnancies with females as compared to males. No gender-related difference was noted for uE3. These results would suggest that the computed DS risk for female fetuses is higher than for males, despite the fact that the incidence of DS is similar in both genders. This information could be useful for calculating gender-specific DS risk; however, this would require ultrasonographic determination of fetal sex.

Urinoma in Pregnancy.

Urinoma, or pararenal pseudocyst, is most frequently the result of trauma. The patient described here presented with symptoms and signs of pyelonephritis, the diagnosis of which was not confirmed bacteriologically. Further investigation led to the diagnosis of urinoma. The pathogenesis and treatment are described.

Postoperative management of cesarean patients: the effect of immediate feeding on the incidence of ileus.

OBJECTIVE: To evaluate the effect of immediate feeding on gastrointestinal function in patients undergoing cesarean delivery. METHODS: A prospective study was conducted in which patients were randomized to one of two groups, either early feeding or delayed feeding, ie, feeding according to the institution's current protocol. Questionnaires were filled out by the subjects on the day of discharge. Fisher exact test was used to compare the two groups with respect to the type of anesthetic used and to compare the incidence of gastrointestinal symptoms. A one-sided exact binomial confidence interval was used to determine the upper bound of the likelihood of paralytic ileus. Logistic regression analysis was used to evaluate the presence of ileus symptoms when controlling for the type of anesthetic used. RESULTS: There were no significant differences between the control and study groups. There was no significant difference in the number of gastrointestinal symptoms between the two groups. The incidence of postoperative paralytic ileus was zero in both the study and control groups. CONCLUSION: Routine early feeding of subjects undergoing cesarean delivery can be implemented without an increase in gastrointestinal symptoms or paralytic ileus.

A randomized trial of misoprostol and oxytocin for induction of labor: safety and efficacy.

OBJECTIVE: To compare the safety and efficacy of misoprostol and oxytocin for induction of labor. METHODS: One hundred thirty women requiring induction of labor were randomized to receive either intravenous oxytocin or 100 micrograms misoprostol, administered intravaginally every 4 hours until labor was established. RESULTS: Compared with women receiving oxytocin, a greater percentage of women in the misoprostol group had Bishop scores of 3 or less (58 versus 38%, P < .05). Nonetheless, the median induction-to-delivery interval was significantly shorter (585 versus 885 minutes, P < .001) in the misoprostol group. Women in the misoprostol group were more likely to deliver vaginally within 24 hours of the start of induction (77 versus 55%, P < .002). Epidural analgesia was used more frequently in women receiving oxytocin than in those receiving misoprostol (73 versus 50%, P = .025). The total percentage of cesarean deliveries was not significantly different, although the percentage of cesarean deliveries for dystocia was lower in the misoprostol group (8 versus 21%, P = .02). Uterine tachysystole was significantly more common (70 versus 11%, P < .001) and hospital charges significantly less with misoprostol. CONCLUSION: Compared with oxytocin for labor induction, misoprostol results in a shorter induction-to-delivery interval, a reduction in the rate of cesarean delivery for dystocia, and a decreased use of epidural analgesia. Uterine tachysystole is significantly more common with the use of misoprostol.

Gene therapy. Is the future here yet?

Despite the overwhelming number of articles on gene therapy that have been published in the last few years, there is a paucity of trials that have successfully demonstrated the clinical usefulness of this modality. The enthusiasm characterizing some of the earlier studies has given way to a more realistic approach. The next step is to develop more efficient vectors for effective targeting and persistent gene expression.

"Preeclamptic labs" for evaluating hypertension in pregnancy.

OBJECTIVE: To determine the utility of evaluating coagulation function in patients with chronic hypertension, transient hypertension, preeclampsia, eclampsia and the HELLP syndrome. STUDY DESIGN: We retrospectively reviewed the charts of 244 patients who delivered between March 1992 and March 1994 at the University of New Mexico with a discharge diagnosis of either hypertension, preeclampsia or eclampsia. RESULTS: Nine patients were thrombocytopenic on admission, as defined by a platelet count of < 100,000/mm3. Three of the 244 patients had mild prolongation of the partial thromboplastin time, and none had prolongation of the prothrombin time. Two of the patients with prolongation of the partial thromboplastin time were thrombocytopenic on admission, and the last had elevation of liver enzymes. No patient had clinical evidence of coagulopathy. CONCLUSION: Measurement of the partial thromboplastin time and prothrombin time in the evaluation of preeclampsia/eclampsia can be avoided if the platelet count and liver enzymes are normal. This results in a decrease in hospital charges and no compromise in patient safety.

The treatment of childhood night terrors through the use of hypnosis--a case study: a brief communication.

Night terrors are nocturnal episodes of intense autonomic arousal which are manifested by loud shouting or screaming in terror. The sufferer is not awake and is generally completely amnestic for the episodes. Night terrors and other sleep disturbances, such as somnambulism, are disorders of arousal (Broughton, 1968; Fisher, Kahn, Edwards, & Davis, 1973; Guilleminault, 1987). A 10-year-old white male was treated for a 6-year-long bout of night terrors. The hypnotic induction consisted of the finger lowering technique where the middle 2 fingers were raised and the individual was asked to watch the fingers as they "go to sleep." He was given suggestions for dropping off to sleep gradually and for rotating cycles of sleep. The regularity and continual movement of the cycles of sleep were emphasized. He was also given direct suggestions for not dropping too quickly into an extremely deep stage of sleep. He has not had a recurrence of night terrors since that time (approximately 2 years). Psychodynamic issues are discussed as is the need for further research.

The Rorschach M response: a return to its roots.

The Exner (1986) system of scoring of the Rorschach results in a human movement response (M), which is far afield from Rorschach's original intent. This divergence can easily lead to faulty interpretations of a record as there is no need for kinesthetic reactions on behalf of the subject in Exner's system. The need to return to a traditional view of the M is demonstrated through a focus on theory and the literature that illustrates Rorschach's intent. The alteration of the M results in a scoring system which, due to its differences, must come up with a separate interpretative system and not consider itself part of the Rorschach system that Rorschach envisioned.

Stability: an ICD detection criterion for discriminating atrial fibrillation from ventricular tachycardia.

INTRODUCTION: The purpose of this study was to review a new implantable cardioverter defibrillator (ICD) detection criterion, stability, to determine if it can effectively discriminate rapid rhythms of atrial fibrillation from ventricular tachycardia. Inappropriate shocks for rapid atrial fibrillation limit the acceptance of ICDs. The advent of an additional detection criterion, stability, has been postulated to be of value in discriminating rapid atrial fibrillation, which may not warrant treatment, from ventricular tachycardia, which obviously does warrant therapy deliver. METHODS AND RESULTS: Twenty-six patients were studied during 32 episodes of rapid atrial fibrillation and 24 episodes of monomorphic ventricular tachycardia below 220 beats/min. Each rhythm was repeatedly evaluated by the device at each of the seven stability values available (8, 16, 23, 31, 39, 47, and 55 msec) and then classified as stable or unstable. Upon completion of this acute study, 32 ICD patients had the stability feature activated and were followed for proper arrhythmia treatment by the device. Using stability windows from 8 to 47 msec, all atrial fibrillation rhythms were appropriately classified as unstable. Three of 6 were classified correctly for the 55-msec window. All ventricular tachycardia rhythms were appropriately classified as stable from all stability windows from 8 to 55 msec. Clinical follow-up confirmed appropriate therapy delivery when coupled with sustained rate duration (SRD). Thirty-two patients followed for 292 patient-months had no episodes of untreated ventricular tachycardia with 428 successfully classified as stable and treated. Only three episodes of suspected atrial fibrillation resulted in therapy delivery as the rhythm duration exceeded the SRD of 30 seconds. CONCLUSIONS: The CPI Ventak PRx ICD is highly reliable in appropriately classifying atrial fibrillation as unstable and monomorphic ventricular tachycardia as stable for most stability windows evaluation tachycardias below 220 beats/min. As a result, when testing of atrial fibrillation is not possible, we recommend the routing programming of this stability feature at the 31-msec window with an SRD of 30 seconds. The reliability of this device in discriminating atrial fibrillation from monomorphic ventricular tachycardia may have important clinical implications for other tiered therapy ICDs with this feature as well as for future ICDs in development.

Multifetal pregnancy reduction.

Multifetal pregnancy reduction (MFPR) has become a mainstay of infertility therapy as its development has allowed physicians to become more aggressive in treating patients resistant to more conservative therapies. Over the course of the past decade, MFPR has become practised in a limited number of tertiary specialty centres, which have improved its performance and very substantially lowered its risks. The majority of physicians performing MFPR employ a transabdominal needle injection of potassium chloride into the fetal thorax. Risks for pregnancy losses of patients starting with triplets and/or quadruplets reduced to twins have improved over the past decade and are not substantially different from those in patients whose pregnancy began as twins. There have been no substantiated risks of coagulopathies or damage to surviving fetuses.

Does labetalol predispose to pulmonary edema in severe pregnancy-induced hypertensive disease?

We investigated whether use of labetalol, a beta adrenoreceptor blocking antihypertensive agent commonly employed as an alternative to hydralazine, is independently associated with pulmonary edema in women with severe preeclampsia. We retrospectively evaluated women with severe preeclampsia who were given labetalol by intravenous bolus for MAP > 120 mm Hg. Outcome variables included: achieving MAP < 120 mm Hg with < 300 mg of labetalol, incidence of adverse effects of the drug, including pulmonary edema, hypotension, and maternal bradycardia. Total intravenous fluid intake exceeding output (+ delta I/O) and presence or absence of preeclamptic liver involvement were noted. Statistical analysis included unpaired t-tests and Fisher's exact test. Fifty-one women were studied, 7 (13.7%) of whom developed pulmonary edema. Demographic and pregnancy characteristics were not different between patients who did or did not develop pulmonary edema. No patient had detectable underlying heart disease. Patients with or without pulmonary edema did not differ as regards entry MAP (130 +/- 14 vs. 129 +/- 18 mm Hg), total dose of labetalol (209 +/- 83 vs. 193 +/- 39 mg/24 hours), incidence of bradycardia or hypotension (0/7 vs. 8/44), or presence of hepatic involvement (1/7 vs. 9/44). However, there was a significant difference in degree of positive fluid balance. Patients developing pulmonary edema had a net gain of 1,466 +/- 429 mL of fluid in the 24 hours in which they received labetalol than those who did not (659 +/- 1152 mL, P = .003). Initial central hemodynamic monitoring data revealed no impairment of cardiac performance (mean cardiac output 7.7 +/- 1.8 L/min, cardiac index 4.0 +/- 0.8 L/min/m2, left ventricular stroke work index 73 +/- 9 g.m.m-2) despite high pulmonary capillary wedge pressures (22 +/- 4 mm Hg). We conclude that the incidence of pulmonary edema in patients with severe preeclampsia who are treated with labetalol appears to be a result of an increase in third space fluid accumulation as a manifestation of the severity of their disease, not a direct effect of the drug on cardiac performance.