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Biomedical subjects

W A Hogge

Publications and source records attributed to W A Hogge.

At least 19 recordsLinked to original sources
PubMed1992

Congenital nephrosis: detection of index cases through maternal serum alpha-fetoprotein screening.

Congenital nephrosis is an autosomal recessive disorder with an incidence of 1 in 8000 in Finland, but it is quite rare in non-Finnish populations. In families known to be at risk, prenatal detection is possible by means of maternal serum and/or amniotic fluid alpha-fetoprotein levels. We report the antenatal diagnosis of four cases of congenital nephrosis, three of which were index cases, through maternal serum alpha-fetoprotein screening. The diagnosis was confirmed at birth in two infants. Two patients elected to terminate their pregnancies, and the diagnoses were confirmed pathologically (obliteration of foot processes on electron microscopy of fetal glomeruli) in both. In cases of elevated maternal serum alpha-fetoprotein, with unexplained and marked elevations of amniotic fluid alpha-fetoprotein and normal acetylcholinesterase levels, the diagnosis of congenital nephrosis must be considered regardless of ethnic origin.

Adult↗
PubMed1992

Chorionic villus sampling: the University of Maryland experience.

The University of Maryland was the first program in the state to offer chorionic villus sampling (CVS). Since the program's beginning in 1984, 998 patients have been seen with successful sampling in 99.1 percent, using both transcervical and transabdominal approaches. The overall loss rate was quite low (2.3 percent), and no increased risk of birth defects was seen. These observations demonstrate that CVS provides a safe and accurate alternative to amniocentesis.

Abortion, Eugenic↗
PubMed1990

Neonatal progeroid syndrome: more than one disease?

We report on an infant with the neonatal progeroid syndrome whose clinical course and autopsy findings indicate that this may be a heterogeneous phenotype. The infant had intrauterine growth retardation, absence of subcutaneous fat, and a wizened, aged face, all apparently characteristic of the condition, but also had congenital heart defects and urinary reflux not reported in previous cases. An elevated maternal serum alpha fetoprotein was noted at 16 weeks of gestation and late-onset growth retardation appeared after 31 weeks. Autopsy findings showed normal cerebral myelination, in contrast to findings of sudanophilic leukodystrophy in the one patient with the syndrome previously examined at autopsy. These findings suggest that the neonatal progeroid syndrome may be a phenotype and have more than one cause.

Abnormalities, Multiple↗
PubMed1990

Multicystic dysplastic kidney: natural history of prenatally detected cases.

To delineate the natural history of fetal multicystic dysplastic kidneys (MDKs), all cases that were prenatally detected in the Prenatal Diagnosis Center of the University of Virginia from September 1985 to 31 August 1988 were reviewed. All patients were followed through the Center with serial ultrasound evaluations at approximately 4-week intervals, and each liveborn infant was evaluated and followed by one of the authors (S.S.H.). Of the 14 cases detected, ten were detected in the second trimester, the earliest at 16.5 weeks' gestation. Of the nine fetuses with non-lethal disease, there were two cases in which the lesion remained unchanged during observation. Both had an initial diagnosis in the third trimester. In those cases diagnosed in the second trimester (7), all showed an initial increase in the size and number of cysts, followed by involutional changes either in utero (2) or in the neonatal period (3). Two infants had immediate surgical removal of the MDK, one because of respiratory compromise, and the other because of an uncertain diagnosis on renal scan. Abnormalities of the contralateral kidney were found in 7 of 14 fetuses. Five were lethal conditions. Associated non-renal abnormalities were common in bilateral MDK (80 per cent), but rare in unilateral MDK (11 per cent).

Female↗
PubMed1990

Transcervical chorionic villus sampling and amniocentesis: a comparison of reliability, culture findings, and fetal outcome.

We evaluated the reliability, culture findings, and fetal outcome after transcervical chorionic villus sampling or amniocentesis in a group of 860 patients. All procedures were performed for the indication of advanced maternal age with consistent procedure and laboratory techniques. Successful procedures were completed in 97.7% (420/430) of patients in the chorionic villus sampling group, compared with 99.5% (428/430) in the amniocentesis group (p less than 0.01). Success was more frequent with only one attempt in the amniocentesis group (427/428) versus 354 of 420 in the chorionic villus sampling group (p less than 0.001). Culture failure was more common after chorionic villus sampling (p less than 0.001). Pregnancy loss rates through 28 weeks' gestation and the entire gestation were not significantly different. The prevalence of preterm delivery did not vary between groups, but birth weights of infants in the chorionic villus sampling group were significantly greater. In summary, the present investigation supports previous findings that chorionic villus sampling is a safe alternative to amniocentesis and is not associated with long-term pregnancy complications.

Abortion, Spontaneous↗
PubMed1990

Diagnosis and management of prenatally detected myelomeningocele: a preliminary report.

Our experience with 23 cases of fetal myelomeningocele provides preliminary information on the outcome of these infants diagnosed in utero and managed by a multidisciplinary team. The mean age of diagnosis was 23.7 weeks (range, 16 to 34 weeks). Mean gestational age at delivery was 36.9 weeks in the 14 patients who elected to continue their pregnancies. None of the 11 infants with lumbosacral or sacral lesions developed significant ventriculomegaly before term. Of the three patients diagnosed with thoracolumbar lesions, two had progression of ventriculomegaly necessitating early delivery at 32 to 34 weeks of gestation. These preliminary findings suggest that a coordinated prenatal and neonatal approach appears to result in a favorable prognosis for infants with myelomeningocele, but that neonatal complications are common, requiring careful monitoring and aggressive management.

Delivery, Obstetric↗
PubMed1990

Early diagnosis of spina bifida: the value of cranial ultrasound markers.

Ultrasonography plays an integral part in the prenatal diagnosis of neural tube defects. However, experienced sonographers with careful evaluation are successful in accurately diagnosing spina bifida only 80-90% of the time. This study was conducted to evaluate the accuracy and reliability of certain cranial ultrasound markers--the "lemon sign," cerebellar abnormalities, microcephaly, and ventriculomegaly--in facilitating the diagnosis of spina bifida in patients referred for prenatal diagnosis. Open spina bifida was diagnosed in 24 of 44 fetuses found to have neural tube defects. The lemon sign and cerebellar abnormalities were identified in all 16 fetuses in whom the diagnosis of spina bifida was made between 16-24 weeks' gestation. In four of these fetuses, the lemon sign and cerebellar abnormalities were noted 1-2 weeks before the spinal defect was identified. Microcephaly was present in 69% and ventriculomegaly in 63% of the cases. In the eight cases diagnosed after 24 weeks' gestation, the lemon sign was less reliable, being noted in only 25% of the fetuses. Ventriculomegaly increased in frequency to 75% and cerebellar abnormalities and microcephaly were present in all. Our findings indicate that these cranial ultrasound markers are extremely reliable for the early diagnosis of spina bifida; their identification should alert ultrasonographers at all skill levels to the possibility of open spina bifida.

Cerebral Ventricles↗
PubMed1989

Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus.

Congenital absence of the kidneys (bilateral renal agenesis, BRA) is a genetically heterogeneous condition, and all modes of inheritance have been suggested as causes. The finding of a 47,XXX chromosome constitution in a fetus with BRA and developmental arrest of the mesonephric and paramesonephric systems raises the possibility that X chromosome trisomy also may cause the urogenital adysplasia sequence.

Adult↗
PubMed1989

The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects.

To assess the relative efficacy of amniocentesis versus targeted (detailed) ultrasonography, 225 patients referred because of an elevated maternal serum alpha-fetoprotein level (79.6%) or a family history of neural tube defect (20.4%) were evaluated. Ultrasonographic examination alone detected all 26 fetal abnormalities (11 cases of anencephaly, 10 cases of open spina bifida, and five other anomalies). Twenty-eight patients declined amniocentesis; all had normal pregnancy outcomes. Of the 167 patients with apparently normal fetal anatomy by sonography, seven had elevated alpha-fetoprotein levels but no acetylcholinesterase in the amniotic fluid. Six of these pregnancies resulted in normal infants; one infant had congenital nephrosis. The remaining 160 patients had normal sonograms with normal amniotic fluid alpha-fetoprotein levels and no fetal malformations at delivery. Although these results suggest that targeted ultrasonography by experienced personnel is a reasonable alternative to amniocentesis in evaluations for neural tube defects, the availability, cost-effectiveness, and diagnostic accuracy of this approach must be well documented in large prospective studies.

Acetylcholinesterase↗
PubMed1988

OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester.

OEIS complex (exstrophy of the cloaca) is an association of fetal malformations that includes omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects. Most cases should be prenatally detectable by maternal serum alpha-fetoprotein screening, but an accurate diagnosis is essential for appropriate counselling of the family.

Adult↗
PubMed1988

Fetal evaluation by percutaneous blood sampling.

Percutaneous umbilical blood sampling (cordocentesis) provides direct access to the fetal circulation in the second and third trimesters of pregnancy. Seventeen patients underwent this procedure between December 1985 and December 1986 for evaluation of a variety of clinical situations, including nonlethal fetal abnormalities detected by ultrasound, equivocal results of amniocentesis, nonimmune fetal hydrops, and isoimmune disorders. Our experience confirms the efficacy of the procedure and suggests that it may become an important tool for fetal assessment and therapy.

Blood Specimen Collection↗
PubMed1987

Ontogeny of fetal liver glucose-6-phosphatase activity.

A reliable and sensitive microassay for the measurement of liver glucose-6-phosphatase is described. Human fetal liver was assayed for glucose-6-phosphatase activity from 7.5 to 24 weeks of gestation and was found to have a mean activity of 2.11 nmol per min per mg of protein. This was approximately 30 per cent of the postnatal controls assayed by the same method, but there was no evidence of a change in activity during the gestational period examined. If fetal liver tissue can be reliably obtained, it may be possible to determine a deficiency of glucose-6-phosphatase in fetuses who are at risk.

Autoradiography↗
PubMed1987

Analysis of chromosomally normal spontaneous abortions after chorionic villus sampling.

Analysis of patients who spontaneously aborted chromosomally normal pregnancies following chorionic villus sampling (CVS) revealed an overall loss rate of 5.4% but a rate of only 3.2% if the procedure was performed between 9 and 12 menstrual weeks. There is preliminary evidence to suggest that a small but significant risk of infection is related to CVS.

Abortion, Spontaneous↗
PubMed1986

Chorionic villus sampling: experience of the first 1000 cases.

Chorionic villus sampling has become widely accepted as a first-trimester alternative to amniocentesis for the prenatal detection of genetic disorders. Our experience with 1000 consecutive cases suggests that spontaneous abortion following the procedure is related to the gestational age at which it is performed, and the rate is acceptably low (3.8%) when the procedure is performed from the ninth through the eleventh menstrual week. Later complications include chorioamnionitis (0.6%) and delayed rupture of membranes and/or oligohydramnios (0.8%). A discrepancy between the villus karyotype and that of the fetus was found in 1.7% of cases and most commonly consisted of mosaicism in the villus sample for a chromosomal abnormality that was not found in fetal samples. We conclude that although chorionic villus sampling appears to be an acceptably safe and reliable procedure, further investigation is needed before this first-trimester technique is widely utilized as an alternative to amniocentesis.

Abortion, Spontaneous↗
PubMed1986

Septic shock with renal failure after chorionic villus sampling.

A report of septic shock and renal failure after a chorionic villus sampling is presented. Uterine evacuation, antibiotics, and vasopressor therapy were unsuccessful in reversing hypotension, coagulopathy, and anuria. The patient's condition improved only after exploratory laparotomy and removal of the uterus, ovaries, and fallopian tubes. The incidence of such serious complications must be determined.

Acute Kidney Injury↗