New syndrome in three affected siblings.

A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.

Midtrimester sonographic diagnosis of mandibulofacial dysostosis.

Two fetuses at risk for mandibulofacial dysostosis (MFD) were monitored sonographically during the midtrimester of pregnancy. Normal facial and auricular structure were identified in one fetus, and a healthy infant was subsequently delivered. Severe microtia and micrognathia were apparent in the second fetus and a diagnosis of MFD was made and confirmed at delivery. These observations indicate that midtrimester sonographic diagnosis of severe MFD is possible.

Rh immune globulin after genetic amniocentesis: impact on pregnancy outcome.

Although Rh immune globulin is commonly given to Rh-negative women undergoing genetic amniocentesis, there is little documentation of the necessity, efficacy, or safety of this policy. In this study, reproductive outcomes in 147 women each receiving 150 micrograms of Rh immune globulin after genetic amniocentesis were compared with those of an equal number of Rh-positive amniocentesis control women. No significant differences were found in the incidence of midtrimester pregnancy loss, mean gestational age at delivery, mean birth weight, or frequency of preterm deliveries (P greater than 0.05 for all parameters). While two antepartum stillbirths occurred in the study group and none in the control population, causes unrelated to Rh immune globulin administration were apparent for both fetal deaths (one multiple congenital anomaly syndrome, one abruptio placentae at 38 weeks). Of the 103 Rh-negative women giving birth to Rh-positive infants, none were overtly sensitized at the time of delivery. It is concluded that second trimester Rh immune globulin administration does not increase the risk of pregnancy loss.

Uptake of ciprofloxacin by macrophages.

Ciprofloxacin was concentrated within mouse peritoneal macrophages to between two and three times extracellular values. Uptake was rapid, occurred equally well with dead cells, and was not affected by lowering the pH or by prior ingestion of Staphylococcus aureus. Intracellular staphylococci were killed by extracellular concentrations of ciprofloxacin as low as 0.5 mg/l.

Phagocytosis and killing of Gardnerella vaginalis by human neutrophils.

Gardnerella vaginalis was ingested and killed by neutrophils in the presence of normal human serum. Heat inactivation of the serum inhibited these processes. The opsonisation of some but not all G vaginalis strains was enhanced by immune rabbit serum. Immune serum did not, however, enhance intracellular killing. Blockade of the classical pathway of complement activation had no effect on the opsonic activity of human serum. These results suggest that the opsonisation, phagocytosis, and killing of G vaginalis by human serum and neutrophils is primarily mediated by complement activated by the alternative pathway. Serum without neutrophils has little effect on the viability of G vaginalis.

Prediction of intrauterine growth retardation via ultrasonically measured head/abdominal circumference ratios.

This prospective study examines the reliability of ultrasonically measured head/abdominal (H/A) ratios in detecting uteroplacental insufficiency (UPI)-related intrauterine growth retardation (IUGR) in 47 patients. Normal H/A ratios were found in 37 (79%) fetuses. None of these infants was classified as small for gestational age (SGA) on newborn pediatric evaluation. Ten fetuses (21%) had H/A ratios greater than +2 SD for gestational age. On this basis, UPI-related IUGR was correctly predicted in all 10 infants. It is concluded that the H/A ratio is a sensitive indicator of UPI-related IUGR. Moreover, this technique is particularly valuable in patients referred for initial scanning after 30 weeks' gestation when it is difficult to distinguish accurately between true IUGR and an "error in dates" on the basis of biparietal diameter (BPD) measurements alone.

Sonographically measured nuchal skinfold thickness as a screening tool for Down syndrome: results of a prospective clinical trial.

Second-trimester sonographic measurement of nuchal skinfold thickness has been proposed as a potential screening tool for Down syndrome detection. The feasibility of this technique was tested in a prospective study of 3338 consecutive pregnancies at 14-21 weeks' gestation. A nuchal skinfold thickness of 6 mm or greater was identified in 47 fetuses (1.4%), 12 of whom proved subsequently by either amniocentesis or postnatal follow-up to have Down syndrome. The sensitivity of nuchal skinfold thickness for Down syndrome detection was 75% (12 of 16 cases). When adjusted for the incidence of Down syndrome in the general population (one in 710 births), the positive predictive value of nuchal skinfold thickness for Down syndrome detection was one in 13. The observed sensitivity, false-positive rate, and predictive value suggest that amniocentesis should be offered when a nuchal skinfold thickness of 6 mm or greater is observed between 14-21 weeks' gestation.

Sonographically detected hyperechoic fetal bowel: significance and implications for pregnancy management.

OBJECTIVE: The clinical significance of sonographically detected hyperechoic fetal bowel has not been fully established. This report describes the natural history, pregnancy outcome, and associated features of 30 cases of prenatally diagnosed hyperechoic fetal bowel. METHODS: Fetal bowel of similar or greater echogenicity than surrounding bone was considered hyperechoic. Fetuses so diagnosed were compared with matched controls and with our general obstetric population to determine the relative frequencies of cystic fibrosis, perinatal death, fetal growth retardation, and fetal trisomies. RESULTS: The incidence of hyperechoic fetal bowel during the study period was 0.2% (30 of 12,776 fetuses). Four of the 30 fetuses (13.3%) with hyperechoic bowel were found to have cystic fibrosis, as compared with one in 2200 (0.05%) in the general population. Hyperechoic fetal bowel was also associated with increased risks for perinatal death (16.7%, versus 3.8% in matched controls and 1.9% in the general obstetric population) and fetal growth retardation (23.3% versus 1.9% and 5%, respectively). One fetus with hyperechoic bowel had trisomy 18, an incidence of cytogenetic abnormalities of 3.3%. This was not significantly greater than observed in our general obstetric population (1.2%) (P > .25). CONCLUSIONS: The sonographic finding of hyperechoic fetal bowel is associated with an increased risk for cystic fibrosis, perinatal death, and growth retardation. The risk of fetal trisomy in cases of isolated hyperechoic bowel appears small. When detected, hyperechoic bowel should prompt a complete and careful fetal anatomical survey, consideration of parental carrier testing for cystic fibrosis, and serial sonographic assessment of fetal growth, with cytogenetic testing reserved for cases demonstrating other structural malformations.

Ultrasonic growth patterns in normal and discordant twins.

Prior studies on twin biparietal growth have resulted in conflicting conclusions. This study was designed to establish definitive criteria based on both ultrasonic biparietal diameter (BPD) and newborn anthropometric data for normal versus abnormal growth in multiple pregnancies. Fetal BPD and newborn head circumference values among concordant twins were similar to those of appropriate for gestational age (AGA) singletons at all gestational ages. Singleton standards can therefore be applied to evaluate the adequacy of twin BPD growth even in the third trimester. Ultrasonic criteria for the diagnosis of discordancy include an intrapair difference in BPD of 5 mm or more and an intrapair difference greater than 5% in ultrasonically measured fetal head circumferences. Discordant BPD growth noted prior to the third trimester suggests twin-transfusion syndrome and is associated with a high perinatal mortality. In contrast, divergent BPD growth beginning after 30 weeks' gestation appears to have a better prognosis.

Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted?

An association between pyelectasis and Down syndrome has recently been reported. The purpose of this investigation was twofold: 1) to test the hypothesis that pyelectasis is more common in fetuses with Down syndrome, and 2) to determine whether genetic amniocentesis should be offered when dilated renal pelves are identified during fetal ultrasound examination. The study population of 5944 fetuses was separated into two groups by infant outcome: 1) phenotypically and/or chromosomally normal, and 2) chromosomally abnormal. Each group was examined for the presence of pyelectasis, defined as an anteroposterior renal pelvic diameter of 4 mm or greater before 33 weeks or 7 mm or greater after 33 weeks. Pyelectasis was observed in 17.4% (four of 23) of Down syndrome fetuses versus only 2% (120 of 5876) of normal controls, a statistically significant difference (P less than .001). The predictive value of pyelectasis for Down syndrome (one in 90) compares favorably with other accepted indications for genetic amniocentesis, such as advanced maternal age and low maternal serum alpha-fetoprotein (MSAFP). When fetuses with concomitant sonographic abnormalities were excluded, the predictive value of isolated pyelectasis fell to one in 340. We conclude that although renal pyelectasis is more common in Down syndrome fetuses, genetic amniocentesis should be reserved for those cases presenting other risk factors such as advanced maternal age, low MSAFP, or other sonographic abnormalities.

Ultrasonic methods of predicting the estimated date of confinement.

The present study examines the relative accuracy of 2 ultrasonic methods of predicting the estimated date of confinement (EDC). The first technique, mean projected gestational age (MPGA), utilizes 2 fetal biparietal diameter (BPD) readings between 19 and 30 weeks' gestation with at least a 3-week interval between examinations. The 2 values are fitted to the mean of the standard curve as closely as possible and an EDC is predicted. The second method, growth adjusted sonographic age (GASA), is based on 1 BPD measurement in the second trimester and another in the third. The first is plotted on the mean and then readjusted depending on the percentile into which the second falls (below 25, 25 to 75, above 75). The EDC was blindly predicted in 120 patients, 60 by the MPGA method and 60 by the GASA technique. These were compared with 60 controls whose EDCs were predicted on the basis of excellent clinical dates. The interval between the predicted EDC and the actual delivery date was calculated for each patient and the results were compared. There was no statistical difference between the 2 techniques.

Prenatal prediction of lethal pulmonary hypoplasia using ultrasonic fetal chest circumference.

Ultrasonic measurement of fetal chest circumference was tested as a predictor of pulmonary hypoplasia in a group of 26 fetuses at known risk. A 42% prevalence of autopsy-proved pulmonary hypoplasia was found in this population. Chest circumference measurements were plotted on published nomograms based upon head circumference, femur length, and gestational age. Longitudinal observations revealed a progressive lag in chest circumference growth among fetuses who proved to have pulmonary hypoplasia. The nomogram based on femur length provided sensitivity, specificity, and normal and abnormal predictive values of 80, 92, 92, and 89%, respectively. The results of this investigation suggest that fetal chest circumference measurement is a useful adjunct in establishing the diagnosis of lethal pulmonary hypoplasia.

Fetal biometry as a screening tool for the detection of chromosomally abnormal pregnancies.

Recent studies suggest that fetal biometry may allow recognition of pregnancies at risk for Down syndrome. Second-trimester biparietal diameter (BPD)/femur length and observed-to-expected femur length ratios were examined in 48 chromosomally abnormal fetuses and compared with those of a control population composed of both low-risk patients (maternal age less than 35 years) and high-risk patients (maternal age 35 years or more). Biparietal diameter/femur length ratio correctly identified 18% of Down syndrome pregnancies with a positive predictive value of one in 169 and a false-positive rate of only 4%. When trisomies 21, 18, and 13 were considered collectively, a sensitivity of 29% and a predictive value of one in 78 were achieved, with no increase in the false-positive rate (4%). Observed-to-expected femur length ratio was less valuable in detecting chromosomally abnormal fetuses. These data suggest that the BPD/femur length ratio holds promise as a screening tool for the antenatal detection of fetal chromosomal abnormalities. Although encouraging, extrapolation of these results to other centers is not recommended without independent verification.

Abnormal fetal growth patterns. Ultrasonic diagnosis and management.

Diagnostic ultrasound is a useful tool in the management of high-risk pregnancies and provides valuable information about abnormal fetal growth patterns including excessive fetal size and intrauterine growth retardation. Two patterns of growth retardation can be distinguished ultrasonically. Fetuses exhibiting "reduced growth potential" type patterns have little risk of fetal distress and are readily recognized as small for gestational age at birth. Fetuses suffering from uteroplacental insufficiency frequently exhibit a pattern of biparietal growth arrest in the third trimester. These fetuses have a high risk of fetal distress and should be closely monitored with other parameters of fetal-placental function including serial estriols and oxytocin challenge tests. Utilizing conventional pediatric growth criteria, the existence of intrauterine growth retardation is often unrecognized in this latter group.

Cephalic index: a gestational age-dependent biometric parameter.

Cephalic index was proposed originally as a means of recognizing altered head shape and confirming the validity of biparietal diameter (BPD) measurements. Two previous studies found cephalic index to be gestational age-independent. We tested this relationship by regression analysis in 777 well-dated pregnancies, evenly distributed between 14-40 weeks' gestation. Significant variation in cephalic index was found with advancing gestational age, with the highest and lowest values observed at 14 and 28 weeks, respectively. Based upon application in a separate test population of 1361 normal fetuses, a threshold of +/- 1 SD maximized identification of misleading BPDs due to altered head shape.

The role of maternal diabetes in repetitive spontaneous abortion.

The role of maternal diabetes as a cause of repetitive early pregnancy loss was evaluated by examining the reproductive performance of 154 diabetic patients in 489 pregnancies. The overall incidence of spontaneous abortion among gestational diabetics (12.7%) and frank diabetics (12.2%) was not significantly different from that of matched controls (10.9% and 14.5%, respectively). The frequencies of repetitive (two or more) miscarriage were also similar among both gestational diabetics versus matched controls (10.6% versus 9.1%) and frank diabetics versus matched controls (14.6% versus 16.7). It is concluded that diabetes per se is not a frequent cause of repetitive pregnancy loss and that routine glucose tolerance testing is not indicated in the evaluation of patients with a history of habitual abortion.

Ultrasound guidance for human embryo transfer.

Embryo transfer is facilitated with ultrasound guidance. The 16 ultrasound-guided transfers were rated easier, and there was less catheter distortion, in comparison with 12 transfers guided by "clinical feel." The benefits we ascribe to ultrasound guidance are as follows: (1) transfers can be done with the patient supine in the lithotomy position; (2) the catheter tip is accurately positioned in the fundus of the uterine cavity; (3) the ejection of the transfer bubble into the uterus and its persistence during catheter removal and documented; and (4) the continuance of the bubble is comforting to the patient. Greater experience is needed before the impact of ultrasound-guided transfer can be correlated with the rate of pregnancy continuance.

The effect of immunization against GnRF on nutrient requirements of male pigs: a review.

In most countries, male pigs are physically castrated soon after birth to reduce the risk of boar taint and to avoid behaviours such as fighting and mounting. However, entire male pigs are more feed efficient and deposit less fat than barrows. In addition, many animal welfare organizations are lobbying for a cessation of castration, with a likelihood that this could lead to inferior pork unless an alternative method is used to control boar taint. An alternative to physical castration is immunization against gonadotrophin releasing factor (GnRF) which allows producers to capitalize on the superior feed efficiency and carcass characteristics of boars without the risk of boar taint. From a physiological perspective, immunized pigs are entire males until shortly after the second dose, typically given 4 to 6 weeks before slaughter. Following full immunization, there is a temporary suppression of testicular function and a hormonal status that resembles that of a barrow. Nutrient requirements will be different in these two phases, before and after full immunization. Given that there have been few published studies comparing the lysine requirements of entire males and barrows in contemporary genotypes, it is useful to use gilt requirements as a benchmark. A series of meta-analyses comparing anti-GnRF immunized boars and physical castrates and use of nutritional models suggest that the lysine requirement of entire males before the second immunization is 5% higher than for gilts, from 25 to 50 kg BW, and by 8% from 50 to 95 kg. Given that the penalty in growth performance for having inadequate dietary lysine is greater in males than in gilts or barrows, it is important to ensure that lysine requirements are met to obtain the maximum benefits of entire male production during this phase. After the second immunization, the lysine requirement of immunized males decreases and may become more like that of barrows. In addition, a consistent effect of full immunization is a marked increase in voluntary feed intake from about 10 days after the second dose. Putting these together, the estimated lysine requirement, expressed in terms of diet composition, falls to 94% of the gilt level. Although general principles can be described now, further research is needed to fully define the lysine requirements of immunized boars. It is important that the temporal pattern of tissue deposition rates and feed intake be explored to be incorporated into models to predict nutrient requirements over the period of rapidly changing metabolism.

Prevalence and relationships of sensory taint, 5α-androstenone and skatole in fat and lean tissue from the loin (Longissimus dorsi) of barrows, gilts, sows, and boars from selected abattoirs in the United States.

This study assessed prevalence of boar taint in backfat and lean of barrows, gilts, sows, and boars, collected from abattoirs, without knowledge of the farms of origin, in different regions in the United States. Concentrations of 5α-androstenone (liquid chromatography/mass spectroscopy) and skatole (liquid chromatography with fluorescent detection) in backfat were measured. A trained panel evaluated boar taint aroma in heated samples. Mean 5α-androstenone and skatole levels were low among barrows, gilts, and sows, whereas 55.8% of boars scored above a 1.0 µg/g threshold for 5α-androstenone concentrations and 34.2% were above a 0.2 µg/g threshold for skatole concentrations. Mean aroma scores for backfat and lean from barrows, gilts, and sows were low. In comparison, 59.2% of boars had elevated mean aroma scores from fat samples and 31.7% from lean. Importantly, boar taint aroma was detectable by the trained panel in at least some animals in each of the sex classes.