Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

Antenatal sonographic findings in a case of intra-abdominal pulmonary sequestration.

This report describes the antenatal sonographic identification of a hyperechoic intra-abdominal mass in a 30-week fetus. The mass was proved by autopsy to be an extralobar pulmonary sequestration. Although a rare type of congenital malformation, pulmonary sequestration should be included in the differential diagnosis of an echodense intra-abdominal mass seen during antenatal ultrasound examination.

Evaluating premenstrual symptoms in medical practice.

Essential diagnostic criteria for evaluating premenstrual syndrome (PMS) symptoms are marked change in intensity of symptoms measured on postmenstrual and premenstrual days and documentation of changes for at least two cycles. Four symptom evaluation methods in a PMS treatment program are compared and discussed: physician interview, menstrual symptom questionnaire, daily symptom ratings, and the Hopkins symptom checklist. Data from 241 patients who met the criteria for marked change in symptoms show that premenstrual symptom levels are severe, a subgroup has moderate symptoms continuing in the follicular phase, and that emotional symptoms are predominant. Diagnostic evaluation needs to distinguish menstrually related disorder from undiagnosed physical or psychiatric illness. Further research is needed to identify a classification system of multiple subtypes of menstrual disorders.

Degree of oligohydramnios and pregnancy outcome in patients with premature rupture of the membranes.

Amniotic fluid volume was serially assessed by real-time ultrasound in 90 patients who presented with premature rupture of the membranes (PROM) and not in labor. The degree of oligohydramnios was correlated to the outcome of pregnancy, as reflected by pregnancy prolongation, intrapartum fetal heart rate patterns consistent with umbilical cord compression, cesarean section rate, fetal distress, infection, and perinatal mortality rate. These data suggest that in patients with PROM the degree of oligohydramnios is positively correlated with unfavorable pregnancy outcome.

Perinatal management and outcome of fetal ventriculomegaly.

In 20 consecutive cases of fetal ventriculomegaly, diagnosed by antenatal ultrasound examination, hydrocephalus was isolated in six patients (30%) and was associated with other anomalies in 14 (70%). There were no false positive diagnoses of fetal ventriculomegaly in this series. Fetal structural and/or chromosome abnormalities were diagnosed antenatally in 11 of the 14 patients (78.5%) with postnatally documented anomalies. In ten patients (50%), isolated fetal ventriculomegaly or ventriculomegaly associated with spina bifida was diagnosed antenatally, and the perinatal management consisted of frequent ultrasound examinations, weekly fetal biophysical profiles, and delivery by cesarean section after documenting fetal lung maturity. Ventriculo-amniotic shunt placement was not part of the management. The outcomes were induced abortion, four patients (20%); intrapartum death, two patients (10%); postnatal death, five patients (25%); and currently alive, nine patients (45%).

Ultrasonic diagnosis of discordant fetal growth in twin gestations.

Forty-three consecutive twin pregnancies were evaluated by ultrasound to establish criteria for antenatal detection of discordant fetal growth. For each fetus an attempt was made to measure the biparietal diameter (BPD), abdominal circumference, and femur length; the estimated fetal weight was also calculated based on published formulas. The intrapair differences in BPD, abdominal circumference, femur length, and estimated fetal weight were evaluated as predictors of discordant fetal growth. Although the intrapair difference in BPD measurement was not a statistically significant predictor, an intrapair difference in abdominal circumference of 20 mm or more was found to have sensitivity 80%, specificity 85%, positive predictive value 62%, and negative predictive value 93%. Intrapair difference in the estimated fetal weight was found to be the best predictor of discordant fetal growth (sensitivity 80%, specificity 93%, positive predictive value 80%, and negative predictive value 93%). These data suggest that the intrapair difference in abdominal circumference measurement could be effectively used as a screening test for the diagnosis of discordant fetal growth. If the intrapair difference in abdominal circumference is 20 mm or greater, further evaluation, by determining the intrapair difference in estimated fetal weight, is indicated.

Antenatal evaluation and management of ultrasonically detected fetal anomalies.

With the advent of improved ultrasound imaging, it is now possible to make an intrauterine diagnosis of many fetal anomalies. The key to an accurate antenatal diagnosis is careful scanning of the fetus and knowledge of the abnormalities that may be associated with a particular anomaly. In the presence of fetal anomalies known to be associated with increased frequency of chromosome abnormalities, fetal karyotyping is indicated, using either amniocentesis or fetal blood sampling, depending upon the urgency of the diagnosis. Fetal echocardiography is mandatory when the ultrasonically detected fetal anomaly is one that is known to be associated frequently with cardiac disease. Based on the antenatal findings, the parents should receive appropriate genetic and perinatal counseling. The management plan should always take into consideration the parents' wishes. Management plans for the most common ultrasonically detected fetal anomalies are presented, based upon review of the literature and authors' experience.

Fetal breathing as a predictor of infection in premature rupture of the membranes.

The value of the presence or absence of fetal breathing in predicting infection was determined by a retrospective analysis of 130 patients with premature rupture of the membranes and no clinical signs of infection or labor. The last ultrasound examination performed within 48 hours of delivery was used for comparison to infection outcome, as reflected by the development of clinical amnionitis, possible neonatal sepsis, and neonatal sepsis. The sensitivity and specificity of fetal breathing in predicting infection in patients with premature rupture of the membranes were 91.6 and 64.8%, respectively. These data suggest that the presence of fetal breathing is a good predictor of noninfection outcome (negative predictive value 95.3%), whereas its absence does not necessarily indicate impending infection (positive predictive value 50%).

Cytogenetic evaluation of fetal death: the role of amniocentesis.

Fetal death can be associated with chromosomal abnormalities. Because of the degree of tissue maceration and autolysis seen in stillborn fetuses, it is often impossible to successfully culture these tissues for cytogenetic studies. We performed genetic amniocentesis in four cases of fetal death and were successful in obtaining cytogenetic results in all four, whereas the culture of fetal tissues for cytogenetics was successful in only one case. Chromosomal abnormalities were found in three of the four cases, including two fetuses with Down's syndrome and one fetus with Turner's syndrome. Because of the importance of cytogenetic studies in most cases of fetal death, we recommend amniocentesis at the time of diagnosis rather than waiting for delivery of fetal tissues, when postmortem changes may make it impossible to successfully culture fetal cells.

Prenatal detection of a neural tube defect after fetal exposure to valproic acid.

Fetal exposure to valproic acid has recently been associated with an increased incidence of neural tube defects. The prenatal detection of a fetus with both hydrocephalus and meningomyelocele after valproic acid exposure is presented and specific recommendations made for antepartum evaluation in future pregnancies.

Fetal biophysical profile versus amniocentesis in predicting infection in preterm premature rupture of the membranes.

A comparison between daily fetal biophysical profile determinations and amniocentesis (for Gram stain and culture) was studied prospectively in 58 patients who presented with preterm premature rupture of the membranes and no apparent infection or labor. The efficacy of these two methods in predicting infection outcome--as reflected by the development of clinical amnionitis and/or neonatal sepsis--was determined. These data suggest that daily fetal biophysical profile assessment is superior to amniocentesis in predicting infection outcome in these patients. The use of frequent biophysical profile determinations should replace amniocentesis in selecting those patients with premature rupture of the membranes who are more likely to develop infection with associated fetal/neonatal sepsis.

Amniocentesis with premature rupture of membranes.

Transabdominal amniocentesis was used in 73 consecutive, referred patients with premature rupture of membranes and no clinical signs of infection or labor. Positive Gram stain or positive culture of obtained amniotic fluid was used as an indication for delivery. The outcome of pregnancy in this group of patients was compared with the outcome of a historic control group of 73 patients managed conservatively without amniocentesis. Clinical amnionitis and low five-minute Apgar scores occurred significantly less often in the study than in the control group; however there was no difference in the frequency of neonatal infection, one-minute Apgar score, cord blood pH, or perinatal mortality between the two groups.

Qualitative amniotic fluid volume versus amniocentesis in predicting infection in preterm premature rupture of the membranes.

Qualitative amniotic fluid volume assessment and amniocentesis were performed on admission in 54 patients who presented with premature rupture of the membranes and no clinical signs of infection or labor. Comparison of these two methods in predicting infection outcome--as reflected by the development of clinical amnionitis and/or neonatal sepsis--suggests them to have the same efficacy in predicting infection outcome in patients with premature rupture of the membranes. Qualitative amniotic fluid volume was found to have sensitivity 50%, specificity 92.8%, positive predictive value 66.6%, and negative predictive value 86.6%; amniocentesis was found to have sensitivity 58.3%, specificity 88%, positive predictive value 58.3%, and negative predictive value 88%. The use of ultrasonically estimated amniotic fluid volume could replace or be used in addition to amniocentesis in identifying patients with ruptured membranes at particular risk for developing infection.

Value of fetal ponderal index in predicting growth retardation.

Fetal ponderal indexes were calculated by ultrasound examination and compared with the neonatal ponderal indexes in 113 pregnancies. The relationship between the fetal and neonatal ponderal indexes throughout gestation is described. The fetal ponderal index also was evaluated as a predictor of intrauterine growth retardation (IUGR) and was found to have sensitivity and specificity of 76.9 and 82%, respectively. These data suggest that the fetal ponderal index could be used to rule out the diagnosis of IUGR with reasonable accuracy (negative predictive value 96.4%).

Fetal biophysical profile and the effect of premature rupture of the membranes.

A retrospective study of 1151 fetal biophysical profiles and scores associated with good pregnancy outcome was conducted over a three-year period in the author's institution. Normal fetal biophysical activities and scores were determined throughout gestation from 25 to 44 weeks in patients with intact membranes, and compared with profiles and scores of a group of patients with premature rupture of the membranes and good pregnancy outcome. These data suggest that although the biophysical scoring of the healthy fetus with intact membranes does not change significantly throughout gestation, some of the fetal biophysical variables (nonstress test, fetal breathing movements, amniotic fluid volume, and placental grading) do. The rupture of membranes was found to be associated with higher incidence of reactive nonstress testing, absence of fetal breathing, and reduced amniotic fluid volume in most gestational ages; however, the overall biophysical scoring of the healthy fetus was not altered throughout gestation by the presence of ruptured membranes.

Diagnostic tests in obstetrics: a method for improved evaluation.

With the proliferation of diagnostic tests in obstetrics, several recurrent questions arise. How does one determine whether one diagnostic test is superior to another available test? What test cutoff value best separates diseased from nondiseased patients? How much does performance of additional tests assist in arriving at a correct diagnosis? This article reviews a simple yet sophisticated analytic technique, the receiver operating characteristic curve, and demonstrates its application to several obstetric diagnostic tests. Receiver operating characteristic curve analysis is used to select a cutoff value for the 1-hour glucose tolerance test, to compare amniotic fluid tests of fetal lung maturity, and to determine the optimal combinations of factors and overall performance of the fetal biophysical profile. The value of receiver operating characteristic curve analysis lies in providing a clear graphic analysis of the performance of diagnostic tests over their entire range of values. It also provides the starting point for evaluating the costs and benefits of alternative cutoff points in differing clinical settings.

Amniostat FLM: a new technique for detection of phosphatidylglycerol in amniotic fluid.

Amniostat-FLM (AFLM) is an immunologic semi-quantitative slide agglutination test for determining the presence of phosphatidylglycerol (PG) in amniotic fluid. We analyzed 178 samples for the presence of PG by both AFLM and our standard thin-layer chromatographic technique (TLC). Both tests agreed in 135 of 178 cases. All fluids with a mature AFLM had PG detected by TLC assay. All of the 43 discordant samples were classified as immature by AFLM although PG was present by TLC. Among the 151 patients who delivered within 72 hours of amniocentesis, 17 cases of respiratory distress syndrome (RDS) occurred. All were correctly predicted by immature tests. However, an immature AFLM was associated with RDS in only 21% of cases (11/53) while 37% of cases (17/46) with an immature TLC test resulted in neonates with RDS. We conclude that the AFLM is a very simple, rapid, and sensitive test for identifying infants who will develop RDS but is less specific than the TLC assay. Though a mature AFLM will predict fetal pulmonary maturity, an immature result should be confirmed by thin-layer chromatographic analysis.

Use of the femur length to estimate fetal weight in premature infants: preliminary results.

Current techniques for estimating fetal weight in utero use equations containing biparietal diameter and abdominal circumference measurements. When a biparietal diameter cannot be obtained or its technical quality is poor, this technique is hindered. In this study, the use of the fetal femur length and abdominal circumference in estimating fetal weight was investigated. A new formula for estimation of fetal weight with a random error of 13.0 per cent is described.

Preterm premature rupture of the membranes: a risk factor for the development of abruptio placentae.

A retrospective study of 298 patients with preterm premature rupture of the membranes managed expectantly during a 3-year period investigated the association between preterm premature rupture of the membranes and abruptio placentae. Expectant management was associated with the development of abruptio placentae in 19 of these 298 patients (6.3%). The prevalence of abruptio placentae in the entire population during the same 3-year period was 2.7%, whereas in patients without preterm premature rupture of the membranes it was 2%. None of the patients developed clinical or laboratory evidence of disseminated intravascular coagulation and no infection (maternal or neonatal) was noted among the patients who had abruptio placentae. Patients with preterm premature rupture of the membranes and severe oligohydramnios (largest pocket less than 1 cm) seem to be at particular risk for developing this complication. These data suggest that abruptio placentae should be considered as one of the possible risks of expectant management in preterm premature rupture of the membranes.

The use and misuse of the fetal biophysical profile.

The value of the fetal biophysical profile in determining fetal well-being has been well documented. The increasing clinical use of the fetal biophysical profile, however, has led to the recognition of frequent errors in the interpretation and application of this modality. These errors may result in unnecessary interventions or adverse perinatal outcome. The most frequent errors in the interpretation and application of the fetal biophysical profile are described; in an attempt to minimize the misuse of the fetal biophysical profile, an alternative protocol of antepartum fetal evaluation is suggested based upon the information obtained from the biophysical monitoring of the fetus.