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Biomedical subjects

M T Mennuti

Publications and source records attributed to M T Mennuti.

At least 19 recordsLinked to original sources
PubMed1990

Estimation of the risk of thrombocytopenia in the offspring of pregnant women with presumed immune thrombocytopenic purpura.

BACKGROUND AND METHODS: The optimal management of immune thrombocytopenic purpura during pregnancy remains controversial because the risk of severe neonatal thrombocytopenia remains uncertain. We studied the outcome of the index pregnancy in 162 women with a presumptive diagnosis of immune thrombocytopenic purpura to determine the frequency of neonatal thrombocytopenia and to determine whether neonatal risk could be predicted antenatally by history or platelet-antibody testing. RESULTS: Two maternal characteristics were identified as predicting a low risk of severe neonatal thrombocytopenia: the absence of a history of immune thrombocytopenic purpura before pregnancy, and the absence of circulating platelet antibodies in the women who did have a history of the condition. Eighteen of 88 neonates (20 percent; 95 percent confidence interval, 13 to 30 percent) born to women with a history of immune thrombocytopenic purpura had severe thrombocytopenia (platelet count less than 50 x 10(9) per liter at birth), as compared with 0 of 74 (0 percent; 95 percent confidence interval, 0 to 5 percent) born to women first noted to have thrombocytopenia during pregnancy (P less than 0.0001). Among the women with a history of immune thrombocytopenic purpura, 18 of 70 neonates (26 percent; 95 percent confidence interval, 16 to 38 percent) born to those with circulating platelet antibodies had severe thrombocytopenia, as compared with 0 of 18 infants (0 percent; 95 percent confidence interval, 0 to 18.5 percent) born to those without circulating antibodies (P less than 0.02). Thus, the risk of severe neonatal thrombocytopenia in the offspring of women without a history of immune thrombocytopenic purpura before pregnancy and of women with a history of the condition in whom circulating platelet antibodies are not detected was 0 percent (95 percent confidence intervals, 0 to 5 and 0 to 18.5 percent, respectively). CONCLUSIONS: The absence of a history of immune thrombocytopenic purpura or the presence of negative results on circulating-antibody testing in pregnant women indicates a minimal risk of severe neonatal thrombocytopenia in their offspring.

Autoantibodies↗
PubMed1990

Pregnancy outcome of patients with uncorrected uterine anomalies managed in a high-risk obstetric setting.

During an 8-year period, we managed 42 women with 101 pregnancies with previously diagnosed but uncorrected uterine malformations referred to our institution for high-risk obstetric care. All patients were managed under the same standardized protocol requiring weekly visits and decreased physical activity. The population studied consisted of four groups of pregnancies with the following uterine anomalies: unicornuate (five), bicornuate (61), septate (25), and didelphys (ten). Sixty percent of the pregnancies in the unicornuate and didelphys group reached term, 39% in the bicornuate group, and 48% in the septate group. Preterm labor requiring tocolysis occurred in 21% of the pregnancies in the bicornuate group and 15% of the pregnancies in the septate group. Cerclage was placed in 5% of the pregnancies in the bicornuate group. Before our care, the fetal survival rate for pregnancies in the bicornuate and septate groups was 52 and 53%, respectively; with our management protocol, it was 58 and 65%, differences that were not statistically significant. Our experience suggests that high-risk obstetric intervention does not obviate the potential benefit of metroplasty, especially for patients with a bicornuate or septate uterus. We believe that traditional indications for metroplasty should continue to be used.

Abortion, Spontaneous↗
PubMed1989

Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome.

Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich-Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the karyotype was 46,XY, with no evidence of mosaicism for a 45,X cell line. Y-DNA hybridization studies demonstrated a deletion of the sex-determining segment of the short arm of the Y chromosome. This is the first report, in a fetus, of XY Ullrich-Turner syndrome due to a Y chromosome deletion.

Adult↗
PubMed1989

Proximal femoral focal deficiency. Evidence for a defect in proliferation and maturation of chondrocytes.

Proximal femoral focal deficiency is a rare congenital malformation, characterized by a failure of normal development of the proximal part of the femur. To our knowledge, there have been no reports on the histology of fetal growth plates that are affected by this disorder. To characterize this focal developmental anomaly further, we studied the histopathology of the growth plates and epiphyses from a twenty-one-week fetus with unilateral proximal femoral focal deficiency. Although the shape of the cartilaginous anlage of the fetus appeared normal, the growth plate of the proximal part of the involved femur was markedly abnormal. The major findings were: (1) striking failure of the proximal growth plate to migrate proximally, away from the central part of the diaphysis, and failure of formation of a normal growth plate; (2) failure of organization of proliferative and hypertrophic chondrocytes into longitudinal columns; (3) truncation of an immature hypertrophic zone that had abnormal septal architecture; and (4) disorganized vascular invasion with a honeycomb rather than a columnar pattern of primary trabeculae. In contrast, the histological characteristics of the growth plates from the distal part of the femur and from all other long bones were normal.

Cartilage↗
PubMed1988

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male.

Prenatal diagnosis in a fetus with holoprosencephaly showed a 45,X karyotype and a suspected 18p abnormality. At birth, the fetus presented with normal male genitalia. Y chromatin was not cytogenetically detectable by Q-, G-, or G11-banding. Mosaicism for a cell line containing a Y chromosome was not observed in amniocytes, lymphocytes, or skin fibroblasts. Southern blot analysis for 11 different Y-DNA loci demonstrated the presence in the patient's genome of sequences derived from the short arm, centromeric region, and proximal long arm of the Y chromosome (intervals 1-5). The distal long arm of the Y (intervals 6 and 7) was absent. In situ hybridization with the Y-derived probe pDP105 showed silver grains over the short arm of the del(18) chromosome, suggesting a Y/18 translocation with loss of 18p and distal Yq material.

Abnormalities, Multiple↗
PubMed1988

Cerebrospinal fluid shunts in pregnancy. Report of two cases and review of the literature.

With the introduction of silicone indwelling cerebrospinal fluid (CSF) shunts in the 1960s, the prognosis for children with hydrocephalus changed dramatically. These individuals are leading normal and productive lives today. Many women with CSF shunts are not entering the childbearing years. Previously, only 13 cases of pregnancy occurring in patients with CSF shunts have been reported. We present two cases here and review the complications and outcome of the other reported cases. Shunt malfunction appears to be common in pregnancy due to increased intraperitoneal pressure and the enlarging uterus. Rarely is surgical correction or premature delivery necessary. A successful pregnancy ending in the vaginal delivery of a term infant can be expected in the majority of these patients.

Adult↗
PubMed1988

Sonographic findings in fetuses with common chromosome abnormalities.

This article has detailed the common prenatal sonographic findings that have been detected in fetuses with Down syndrome, trisomy 13, trisomy 18, Turner syndrome, and triploidy. It should be noted that not all fetuses with these five chromosomal abnormalities will have sonographically detectable malformations and that some may not be easily recognizable even at birth. It is crucial that the approach to the patient with a sonographically detected fetal malformation be thorough, systematic, and expeditious. The first step is to attempt to accurately define the abnormality. Next, syndromes with which this malformation are associated should be researched and a differential diagnosis constructed. Based on this differential, accompanying findings with which this abnormality is often associated should be looked for sonographically. A detailed history including pedigree information, possible teratogen exposure, consanguinity, and ancestry is imperative. In some cases a Mendelian disorder may be identified by obtaining a thorough prenatal genetic history. In virtually all cases of prenatally detected fetal malformations, chromosome analysis is indicated. Amniocentesis is the most common means of fetal chromosome analysis, but usually takes at least 2 weeks for results. In cases where the gestation is approaching the legal limit for elective termination, rapid karyotyping by percutaneous umbilical cord sampling should be considered and referral to a center familiar with this procedure is suggested. Chromosome analysis from fetal blood takes approximately 3 days to accomplish. Alternatively, rapid karyotyping by transabdominal chorionic villus biopsy may also be accomplished and has been performed as late as 37 weeks gestation. This procedure may be especially advantageous in cases where oligohydramnios is present. If a chromosomal abnormality is identified, genetic counseling should be arranged to discuss prognosis, cause, recurrence risks and to help the parents through this difficult time. If applicable, the option of pregnancy termination should be offered. Not all parents faced with a chromosomally abnormal fetus will wish to terminate their pregnancy and others may be too late in gestation to consider this option. In these cases, discussions with other families raising similarly affected children, social workers, clergy, psychiatrists, and geneticists may be helpful to the parents. Late pregnancy prenatal cytogenetic diagnosis may be beneficial both to the parents in helping prepare them psychologically and emotionally for an adverse outcome and in guiding obstetric management.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗
PubMed1988

X-linked recessive aqueductal stenosis without macrocephaly.

A normocephalic, severely retarded boy with a family history suggesting aqueductal stenosis was found by computerized tomography to have aqueductal stenosis. His parents' concurrent pregnancy was monitored by ultrasonography and amniocentesis; these disclosed a male fetus which developed marked hydrocephalus after the 20th week. The pregnancy was terminated and an autopsy of the fetus demonstrated several major CNS malformations in addition to a very narrowed aqueduct. This case illustrates the diffuse CNS disease present in at least some cases of X-linked aqueductal stenosis (XLAS) and the importance of considering this variable syndrome in normocephalic, non-dysmorphic mentally retarded males. Important aspects of the prenatal diagnosis of XLAS are also illustrated.

Cerebral Aqueduct↗
PubMed1988

Amniotic fluid cholesteryl palmitate in pregnancies complicated by diabetes mellitus.

Amniotic fluid cholesteryl palmitate, as measured by thin-layer chromatography, appears to be a very sensitive and specific predictor for the risk of respiratory distress syndrome (RDS) in newborns of normal pregnancies. To assess the effect of diabetes mellitus on fetal pulmonary maturation, we measured cholesteryl palmitate concentration, the lung profile, and total phosphatidylcholine in amniotic fluid obtained from 35 well-controlled diabetic and 39 control pregnancies at term. In women with diabetes, the mean (+/- SD) third-trimester glycosylated hemoglobin level was 6.96 +/- 2.3% (normal 6-8%). Mean cholesteryl palmitate concentration in the diabetic population was 79.12 +/- 13.17 micrograms/mL, versus 153.71 +/- 16.77 micrograms/mL in the control group (P less than .001). The mean cholesteryl palmitate concentration was also significantly different for gestational diabetics and class B-R gravidas (112.75 +/- 26.2 versus 54.45 +/- 7.34 micrograms/mL; P less than .005). Cholesteryl palmitate was decreased despite the presence of a mature lecithin/sphingomyelin ratio and, in most cases, phosphatidylglycerol. These data suggest that even in well-controlled diabetic pregnancies, alterations in maternal metabolism may affect either the biosynthesis or degradation of cholesteryl palmitate.

Amniotic Fluid↗
PubMed1988

Amniotic fluid fibronectin concentrations with advancing gestational age.

Fibronectin, a large-molecular-weight glycoprotein present on cell surfaces and in human plasma, promotes cell adhesion and may modulate reticuloendothelial clearance of particulate debris and bacteria. Amniotic fluid is known to contain a heavily glycosylated variety of fibronectin, and cells derived from amniotic fluid synthesize and secrete fibronectin in tissue culture. The purpose of this study was to determine the relationship between the concentration of fibronectin in amniotic fluid and gestational age. Amniotic fluid samples, obtained from 54 women whose pregnancies ranged in gestation from 15-40 weeks, demonstrated a significant decrease in fibronectin levels with increasing duration of pregnancy (r = -0.70). Diminished concentrations of amniotic fluid fibronectin in the latter stages of pregnancy may represent either decreasing synthesis by amniocytes or a dilutional effect from fetal urine.

Amniotic Fluid↗
PubMed1987

Neonatal morbidity in pregnancy complicated by diabetes mellitus: predictive value of maternal glycemic profiles.

The relationship between glycemic control and perinatal outcome was assessed in a relatively uniform population of 75 White Class B through D pregnant diabetic women. All patients used glucose reflectance meter self-monitoring and performed a minimum of four determinations daily. Mean capillary blood glucose was calculated from a minimum of 16 weeks of determinations. Regression analysis confirmed a correlation between these values and third-trimester hemoglobin A1 (p less than 0.001). The study population was divided into two groups on the basis of mean capillary blood glucose values: group I, mean capillary blood glucose less than 110 mg/dl (43 patients) (mean = 96.8 +/- 7.1); group II, mean capillary blood glucose greater than 110 mg/dl (32 patients) (mean = 126 +/- 9.0). Of the 32 patients in group II, eight had mean capillary blood glucose greater than or equal to 130 mg/dl. The degree of maternal glycemic control appeared to affect perinatal outcome. At least one form of infant morbidity was present in 33% of group I infants compared with 53% of group II. Significant differences were observed for the incidence of hypoglycemia (p less than 0.05), macrosomia (p less than 0.05), and respiratory distress syndrome (p less than 0.01). One of six group I infants delivered at 35 to 36 weeks developed respiratory distress syndrome, compared with four of seven group II patients. The appearance of phosphatidylglycerol in amniotic fluid appeared delayed in group II patients at term. These data suggest that maintaining mean capillary blood glucose values less than 110 mg/dl may serve to reduce several major forms of morbidity in the infant of the diabetic mother. This information is helpful in establishing objectives for glycemic control in pregnant women using self-monitoring techniques.

Adult↗
PubMed1987

Management of the diethylstilbestrol-exposed pregnant patient: a prospective study.

Over a 5-year period we have managed 63 diethylstilbestrol-exposed pregnant patients with a standardized protocol requiring weekly cervical examination and decreased physical activity of the patient. Twenty-six patients (42%) underwent a prophylactic cerclage for a history of second-trimester loss or a hypoplastic cervix on initial clinical examination (group I). Thirty-six patients (58%) were followed expectantly (group II). Sixteen patients (44%) in group II demonstrated cervical change and required an emergency cerclage. Twenty-one patients were managed expectantly with no cerclage. The gestational age at delivery for group I was 37.7 +/- 2.80 versus 34.5 +/- 6.9 weeks for patients without a cerclage (p = 0.04). There were no perinatal deaths if a cerclage was performed, whereas there were five deaths (24%) in the group without cerclage. The five deaths occurred at a mean gestational age of 24.40 +/- 4.0 weeks and a mean birth weight of 614.00 +/- 441.73 gm. Patients with a hypoplastic cervix or prior reproductive loss had a better outcome with early cerclage than patients with a normal cervix followed expectantly. We presently lack a reliable method to detect the diethylstilbestrol-exposed patient at greatest risk for perinatal loss. Based on our experience we believe that placement of a cerclage early in pregnancy should be a strong consideration.

Adult↗
PubMed1987

The origin of increased serum iron in pregnancy-induced hypertension.

Serum iron was measured in 30 patients with pregnancy-induced hypertension and 24 normal pregnant women. The mean iron concentration was significantly higher in the group with pregnancy-induced hypertension (111 +/- 26 micrograms/ml) than in the controls (69 +/- 17 micrograms/ml) (p less than 0.0001). Readily available laboratory variables were used to determine whether the increased serum iron was the result of (1) hemolysis, (2) hepatocellular injury, or (3) intravascular volume contraction leading to hemoconcentration. It appears that a clinically silent, ongoing hemolytic reaction is responsible for the increase in serum iron seen in patients with pregnancy-induced hypertension.

Adult↗
PubMed1987

Cholesteryl palmitate as a predictor of fetal lung maturity.

Cholesteryl palmitate was measured by thin-layer chromatography in 98 amniotic fluid samples obtained from pregnancies ranging from 15 to 40 weeks. Pregnancies complicated by diabetes mellitus or Rh sensitization were excluded. Cholesteryl palmitate concentration increased with gestational age from values less than 5 micrograms/ml at 15 weeks to maximum values of 384 micrograms/ml at term. Seventy-three patients were delivered of their infants within 24 hours of sampling. The mean concentration of cholesteryl palmitate for 55 infants without respiratory distress syndrome was 123.70 +/- 12.21 micrograms/ml (SD). For neonates that developed respiratory distress syndrome (n = 18), the mean concentration was 22.66 +/- 6.16 micrograms/ml (SD). This difference is significant (p less than 0.001). For all patients delivered, respiratory distress syndrome was not seen when the cholesteryl palmitate concentration was greater than 41 micrograms/ml (mean + 3 SD). All infants with a concentration below 38 micrograms/ml developed respiratory distress syndrome. We conclude that measurement of cholesteryl palmitate concentration in amniotic fluid might be another reliable method of assessing fetal lung maturity and may often improve specificity when compared with other tests of fetal lung maturity.

Amniotic Fluid↗