Evidence of intrapartum hypoxia-ischemia is not present in the majority of cases of neonatal seizures.

OBJECTIVE: To determine the extent to which neonatal seizures are associated with intrapartum hypoxia-ischemia. METHODS: In this case-control study, all neonates diagnosed with seizures at a single institution from 1988 to 1999 were compared to a control group without seizures matched in a 2:1 fashion for gestational age at delivery, birth weight and mode of delivery. Data were abstracted from the maternal and neonatal charts. Parametric variables were compared using an independent samples t test, and non-parametric variables were compared using a Fisher exact test, with p < 0.05 being considered significant. RESULTS: There were 13 cases of neonatal seizures identified, of which one was chromosomally abnormal and excluded from further analysis. For the cases, the mean gestational age at delivery was 34.8 +/- 6.9 weeks, with four preterm and eight term deliveries. The mean birth weight for the cases was 2684 +/- 1369 g (range 590-4350 g). For both cases and controls, 83% were delivered vaginally and 17% by Cesarean section. For term neonates with seizures, the mean length of stay was 11.6 +/- 5.0 days, as compared to 2.5 +/- 0.9 days in the control group (p < 0.001). A 1-min Apgar score of < 7 was found in six of 12 (50%) cases and seven of 24 (29%) controls, and a 5-min Apgar score of < 7 was found in four of 12 (33%) cases and four of 24 (17%) controls (non-significant). In the controls, the mean base excess was -2.8 +/- 2.6 mEq/l, and the mean umbilical arterial pH was 7.28 +/- 0.09. In the case group, two infants born at 24 weeks did not have an umbilical arterial blood gas obtained; in the remaining cases, the mean base excess was -7.6 +/- 6.9 mEq/l (p = 0.02), and the mean cord pH was 7.17 +/- 0.23 (p = 0.065), with only three of ten (30%) having a pH < 7.00 (p = 0.02). CONCLUSION: Clinically significant acidosis was found in only 30% of neonates who developed seizures, and only one of 12 cases (8%) could possibly have met the criteria of the American College of Obstetricians and Gynecologists for neurological morbidity linked to intrapartum asphyxia. The majority of cases of neonatal seizures were not associated with evidence of intrapartum hypoxia-ischemia.

Pathogenesis of acardiac twinning: clues from an almost acardiac twin.

OBJECTIVE: To search for clues to the pathogenesis of acardiac twinning. METHODS: We examined a case of monoamniotic twins in which twin A's only sonographic abnormality was a dilated, tortuous ductus venosus. Twin B also had this abnormality as well as multiple other anomalies that included enormous hydrops and a severely hypoplastic heart. Following termination of pregnancy, autopsy was performed. RESULTS: Postmortem examination of the placenta confirmed monochorionic, monoamniotic placentation with two adjacent trivascular cords. Autopsy confirmed the sonographic findings of enormous hydrops in twin B with a severely malformed, almost nonexistent heart. In addition, the liver was small and was represented by a cyst-like structure with thin rims of congested parenchyma surrounding large vascular spaces. CONCLUSION: We believe the sequence of events in this case was early twin-to-twin transfusion resulting in a dysfunctional heart in twin B. This enabled a twin reversal arterial perfusion sequence with further deterioration of twin B's heart and extreme congestion of deoxygenated blood exiting the heart into the inferior vena cava and ductus venosus. This case supports the concept that circulatory reversal in the face of an initially functioning heart may lead to congestion, tissue hypoxia and secondary organ atrophy.

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.

Cloacal outlet obstruction with an ectopic ureter.

Cloacal malformation occurs in approximately 1 in 50,000 live female births. Prenatal ultrasound may lead to the diagnosis in selected cases. We report an unusual case of prenatally detected single-system hydronephrosis with a nonvisible bladder and worsening oligohydramnios. Labor was induced at 35 weeks' estimated gestational age. On physical examination, a single perineal opening was noted consistent with cloaca. Endoscopy revealed an obstructed ectopic ureter at the level of the sphincter, an undeveloped bladder and vagina, and a fistula to the rectum. A low loop cutaneous ureterostomy and right upper quadrant loop colostomy were performed. The absence of a typical fluid-filled pelvic structure may confound the prenatal diagnosis of cloaca.

Prediction of birth weight by ultrasound in the third trimester.

OBJECTIVE: To compare the accuracy of predicted birth weight by the gestation-adjusted projection method using ultrasonographic measurements obtained just before and at term. METHODS: The study group comprised patients with singleton pregnancies who underwent sonograms between 34.0 and 36.9 weeks' gestation (period 1) and at 37 weeks and beyond (period 2). The mean error in birth weight prediction, absolute birth weight error, and signed and absolute percent errors were compared with paired t tests. Thus, each patient served as her own control. RESULTS: The study included 138 patients undergoing 276 sonograms. The mean absolute error of the predicted birth weight was smaller for period 1 than for period 2 (197 +/- 167 g compared with 235 +/- 209 g, P =.019). The mean absolute percent error was 6.2 +/- 5.2% for period 1 compared with 7.4 +/- 6.3% for period 2 (P =.019). These same trends were observed when fetuses with suspected growth abnormalities were examined separately. Averaging data from both gestational periods did not improve the prediction of birth weight. CONCLUSION: Sonograms between 34.0 and 36. 9 weeks' gestation allow for more accurate prediction of birth weight than sonograms later in gestation. Though these differences are small and not clinically significant, this study indicates that serial sonograms in the late third trimester do not improve the ability to predict birth weight, even in abnormally grown fetuses. A single sonogram between 34 and 37 weeks' gestation is recommended for prediction of birth weight.

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.

We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome.

Second-trimester maternal serum analyte levels associated with fetal trisomy 13.

The aim of this study was to determine whether pregnancies affected by fetal trisomy 13 are associated with second-trimester maternal serum analyte levels different from those typical of the unaffected population. Pregnancies with trisomy 13 were identified through cytogenetics laboratories. Those which had second-trimester maternal serum screening analyte measurements were further evaluated. Maternal serum analyte levels for each case and five matched controls were statistically analysed by matched ranked-sum analysis. 28 cases of fetal trisomy 13 were identified. The median AFP, uE3 and hCG levels were 1.35 MoM, 0.71 MoM and 0.90 MoM, respectively. Only uE3 levels were statistically different (p < 0.01) from those for the unaffected population. These data suggest that second-trimester maternal serum AFP, uE3 and hCG levels are not useful in detecting fetal trisomy 13 and protocols already existing for Down syndrome or trisomy 18 screening will not detect the majority of cases of this aneuploidy.

Preterm labor, placental abruption, and premature rupture of membranes in relation to maternal violence or verbal abuse.

OBJECTIVE: The prevalence of preterm labor (PTL) in prenatal populations has been estimated to be from 6.9 to 10.0%. It has been suggested that violence during pregnancy may be associated with an increase in antenatal complications. The hypothesis is that physical violence and verbal abuse in pregnancy lead to increased risk of PTL. METHODS: A cohort of 636 women attending the Adult Obstetrical Clinic for their first prenatal visit, between December 1989 and September 1990, were approached; 567 women enlisted as study participants. Study participants were interviewed 3 times during the course of their prenatal care, and 401 participants successfully completed their third prenatal interviews. Violence data were obtained during the third interview. Obstetrical and neonatal outcome data were obtained by abstracting the maternal and neonatal medical records. RESULTS: When stratified by levels of violence, women who experienced moderate or severe violence had incidences of PTL of 15.4 and 17.2%, respectively. Chi-square test for homogeneity revealed a significant difference among these groups. CONCLUSIONS: In our cohort of women, serious acts of verbal abuse and physical violence occurred with significant frequency. PTL was strongly correlated with increasing acts of violence with 4.1 times greater risk of PTL in women who experienced severe violence as compared to those who experienced no maternal abuse.

Helical CT amniography of congenital diaphragmatic hernia.

OBJECTIVE: Accurate prenatal diagnosis of congenital diaphragmatic hernia is important for perinatal planning and potential fetal surgery. We describe the application and usefulness of helical CT amniography in the evaluation of suspected congenital diaphragmatic hernia in three fetuses. CONCLUSION: Helical CT amniography is an efficient means for evaluation of congenital diaphragmatic hernia. Accurate diagnosis was made in all three patients.

Station at onset of active labor in nulliparous patients and risk of cesarean delivery.

OBJECTIVE: To determine whether term nulliparas with an unengaged vertex presentation at onset of active labor have a higher risk for cesarean delivery. METHODS: A retrospective cohort of 1250 randomly chosen nulliparous patients at 37-42 weeks' gestation who delivered between 1988 and 1989 were selected. Four hundred forty-seven patients were excluded because of nonvertex presentation, cesarean delivery before active phase of labor, multiple gestation, delivery at less than 37 weeks' or greater than 42 weeks' gestation, induction of labor, or missing charts. For the purpose of this study, active labor was defined as regular contractions with cervical dilatation of at least 3 cm. The station at onset of active labor was recorded. Engagement was considered to be at station 0 or below. RESULTS: Of the 803 patients in the study group, 567 presented unengaged and 236 patients presented engaged. The cesarean rates differed significantly between the two groups: 14% of those unengaged compared with 5% of those engaged (chi2 = 11.9, P < .001). After adjusting for confounding variables, engagement at the time of onset of active labor was associated with lower risk of cesarean delivery (odds ratio .512, 95% confidence interval .285, .922). CONCLUSION: Eighty-six percent of nulliparas with an unengaged vertex at onset of active labor delivered vaginally. Engaged vertex at the onset of active labor was associated with a lower risk of cesarean delivery.

Region-specific FISH probes used to identify and characterize an interstitial paracentric inv(21)(q22.1q22.3).

Region-specific probes developed for the diagnosis of specific syndrome, can be adapted to elucidate the exact nature of certain chromosomal structural anomalies. We describe the use of FISH probes in characterizing a prenatally diagnosed chromosome rearrangement. An abnormal chromosome 21 was detected during amniocentesis for maternal age indication, and a similar appearing chromosome 21 was found in the mother. The exact nature of the rearrangement was not immediately evident from G-banded karyotypes. FISH was performed using a whole chromosome painting probe, as well as the region-specific probes D21S65 (21q21-22.1), D21S55 (21q22.3) and D21S1219/D21S1220 (21q22.3-qter) (Oncor). Results showed an interstitial paracentric inversion, with breakpoints in bands 21q22.1 and 21q22.3, which was identical in the mother and the fetus: 46,XX,?inv(21)(q).ish inv(21)(q22.1q22.3)(wcp+.D21S65 mv, D21S55 mv, D21S1219/D21S1220 st). In this case, FISH using region-specific probes was helpful in characterizing the inversion and aided in the genetic counselling of risk assessment for the family.

Managed care does not lower costs but may result in poorer outcomes for patients with gestational diabetes.

OBJECTIVE: Our purpose was to compare the costs of prenatal care and subsequent maternal and neonatal outcomes in patients with gestational diabetes cared for in an inner-city university hospital house staff clinic versus an inner-city managed care organization. STUDY DESIGN: A retrospective cohort study was conducted. The groups consisted of 115 patients with gestational diabetes who were cared for in a house staff clinic and a demographically similar group of 85 patients cared for in a neighborhood managed care organization. The groups were examined regarding baseline demographics, intensity of prenatal care, maternal and neonatal outcomes, and total cost of the provision of care. RESULTS: There was no difference between groups in the total cost of maternal-infant care. A larger percentage of patients in the house staff group saw the physician frequently. In contrast, patients cared for in the managed care organization underwent more tests of fetal well-being. There was a greater rate of neonatal macrosomia in the managed care organization group compared with the house staff group. CONCLUSIONS: Managed care does not decrease the cost of caring for patients with gestational diabetes but does lead to a greater rate of neonatal macrosomia, which may reflect poorer glucose control.

A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.

We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (within q36) were confirmed by FISH studies. DNA analysis on the family showed that the abnormal chromosome was derived from a single paternal homolog. A mechanism is proposed in light of this finding. The phenotype at autopsy was consistent with reported cases of similar duplications in chromosome 7 in that hydrocephalus, a depressed nasal bridge, low set ears, microretrognathia and a short neck were present.

A prospective randomized trial of two solutions for intrapartum amnioinfusion: effects on fetal electrolytes, osmolality, and acid-base status.

OBJECTIVE: Our purpose was to compare the effects of intrapartum amnioinfusion with normal saline solution versus lactated Ringer's solution plus physiologic glucose on neonatal electrolytes and acid-base balance. STUDY DESIGN: Patients undergoing amnioinfusion for obstetric indications were randomized to receive normal saline solution or lactated Ringer's solution plus physiologic glucose at standardized amnioinfusion rates. Data were collected prospectively on maternal demographics, course of labor, and maternal and neonatal outcome. Arterial cord blood was obtained for analysis of electrolytes, glucose, osmolality, lactic acid, and blood gases. Control subjects with normal fetal heart rate patterns, and clear amniotic fluid not receiving amnioinfusion were studied concurrently. RESULTS: Data were collected on 59 patients (21 normal saline solution, 18 lactated Ringer's solution plus physiologic glucose, and 20 controls). Maternal demographics, course of labor, and neonatal outcome were similar in all three groups. Cesarean sections were performed more often in the amnioinfusion groups (33.3% for normal saline solution, 38.9% for lactated Ringer's solution plus physiologic glucose) than in the control group (5.0%), p < 0.05. Cord arterial electrolytes, glucose, osmolality, lactic acid, and blood gases were not altered by amnioinfusion with either solution. CONCLUSION: Intrapartum amnioinfusion with normal saline solution or lactated Ringer's solution plus physiologic glucose has no effect on neonatal electrolytes or acid-base balance.

Acquired spinal cord injury in human fetuses with myelomeningocele.

Experimental studies have shown that there is a potential to attempt in utero repair of myelomeningocele in human fetuses. To provide a better understanding of the pathology of these lesions we prospectively studied eight stillborn human fetuses with myelomeningocele autopsied at The Johns Hopkins Hospital. The intact vertebral column with surrounding structures was removed, processed as a single block, and prepared as serial histologic sections. Study of the slides showed in all cases that in the center of the myelomeningocele the vertebral arch was open, the arrangement of meninges was such that the dura mater was open and in continuity with the deep layers of the dermis, and the pia mater was open and in continuity with a layer consisting of the superficial dermis and the epidermis. These meningeal relationships created an abnormally configured arachnoid space containing cerebrospinal fluid ventral to the spinal cord, which rested on the open pia mater and was exposed on the dorsal aspect of the sac. At the level of the myelomeningocele the naked cord had undergone varying degrees of injury up to complete loss of neural tissue. Where ventral remnants of the cord remained it was evident that a large degree of normal development of the cord had occurred. In most instances it appeared that the injury or destruction of the dorsal spinal cord was recent and consistent with occurrence during delivery. The results of this study support the concept that in utero surgery could preserve and protect the exposed spinal cord in a myelomeningocele of a human fetus and thus could reduce the severity of the neurologic deficit at birth.

Lysosomal enzymuria in preeclampsia.

We hypothesize that the preeclamptic patient has proximal tubule epithelial injury, which leads to the release of lysosomal enzymes, and that the excretion of these enzymes might serve as a diagnostic or predictive marker in preeclamptic women. The study group consisted of 14 women with preeclampsia (10 severe and 4 mild, as defined by The American College of Obstetricians and Gynecologists criteria) and 28 normotensive controls with singleton pregnancies at 27 to 41 weeks. There were no significant differences between the two groups for gestational age, maternal age, or race. Maternal serum and urine specimens were prospectively obtained and analyzed for beta-glucuronidase, beta-hexosaminidase, alpha-galactosidase, beta-galactosidase, and alpha-mannosidase using fluorometric assays. Median serum and urine activities and fractional excretions of each of the five hydrolases were compared between the two study groups using the Mann-Whitney two-sample rank test. The serum enzyme activities of beta-hexosaminidase (P = 0.002), alpha-galactosidase (P = 0.0001), and alpha-mannosidase (P = 0.02) were significantly lower in preeclamptic patients than in controls. The urine enzyme activities of beta-glucuronidase (P = 0.001), alpha-galactosidase (P = 0.002), beta-galactosidase (P 0.0003), and alpha-mannosidase (P = 0.003) were significantly higher in the preeclamptic patients. The fractional enzyme excretions of all five lysosomal hydrolases were higher in preeclamptic patients than in controls with P < or = 0.0003 for each enzyme. Preeclampsia is associated with a significant decrease in serum activities of three of the five hydrolases studied, a significant increase in urine enzyme activities in four of the five hydrolases studied, and a significant increase in the fractional excretion of all five lysosomal hydrolases.

Amniotic fluid alpha fetoprotein (AFAFP) and maternal serum alpha fetoprotein (MSAFP) in abdominal pregnancies: correlation with extent and site of placental implantation and clinical implications.

The hypotheses are evaluated that in abdominal pregnancies 1) elevated MSAFP is due to an altered maternal-placental interface, and 2) differences in MSAFP levels may reflect placental location within the peritoneal cavity. A review of 1,193 ectopic pregnancies from 1983-1993 identified three cases of advanced abdominal pregnancy. All three had undergone second trimester genetic amniocentesis for amniotic fluid alpha fetoprotein (AFAFP) and karyotype. The clinical course was reviewed (including presentation and surgical findings). MSAFP was elevated in two of the three cases (3.63 and 4.88 MoM). AFAFP and fetal karyotype were normal in all three cases. Elevated MSAFP values were associated with more extensive visceral implantation, longer surgical operative time, greater blood loss and transfusion requirements. Abdominal pregnancies with elevated MSAFP appear to have more extensive placental involvement of the abdominal viscera; this would, in fact, account for the elevated MSAFP values given the normal AFAFP.

Devastating sequelae of alloimmune thrombocytopenia: an entity that deserves more attention.

UNLABELLED: In alloimmune thrombocytopenia, maternal sensitization to a fetal platelet alloantigen results in fetal thrombocytopenia. Even in primipara, 20% of offspring can suffer intracranial hemorrhage, half of which occur in utero. Ninety percent of subsequent pregnancies will be equally or more severely affected. We describe two patients whose previous pregnancies were complicated by neonatal alloimmune thrombocytopenia (NAIT). As expected, NAIT recurred, with devastating sequelae in both cases. One case presented with hydrops fetalis, a previously unreported association; the other fetus developed extensive intracranial hemorrhages in utero. Because both previous obstetrical histories had gone unrecognized, no preventative strategies had been undertaken. CONCLUSION: Better recognition of this disease through a positive obstetrical history is needed in order to properly counsel patients and institute appropriate prenatal treatment regimens.