Cases reported "Fetal Diseases"

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1/11. Prenatal sonographic diagnosis of dilated cavum vergae.

    Several cases of enlarged cavum vergae have been reported, but prenatal diagnosis of this condition is very rare. We report 3 cases of dilated cavum vergae diagnosed prenatally using sonography. In 1 of the 3 fetuses, ventriculomegaly and lumbar meningomyelocele were additional sonographic findings. In 1 of the 3 infants, a stereotactic cyst-peritoneal shunt was placed at 6 months of age to relieve intracranial hypertension due to progressive enlargement of the cavum vergae. The infant who had a meningomyelocele required surgical repair of this defect shortly after birth; in the third infant, the dilated cavum vergae remained asymptomatic, and no surgery was necessary. When interhemispheric cystic lesions are identified prenatally, physicians must distinguish them from pathologic cysts and determine whether associated malformations are present. Sonography is useful for both the differential diagnosis and identification of associated anomalies.
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2/11. Fetal meconium peritonitis in the infant of a woman with fulminant hepatitis b. A case report.

    BACKGROUND: Simultaneous fulminant maternal hepatitis b infection and fetal meconium peritonitis has never been reported before in the English-language literature. CASE REPORT: Fetal meconium peritonitis was detected at 32 weeks' gestation in a 21-year-old woman suffering from fulminant hepatitis. Fulminant hepatitis b was confirmed by clinical observation and serologic examination results. The course was also complicated with preterm labor. The fetus was diagnosed with meconium peritonitis prenatally. Because of failed tocolytic treatment, the fetus was delivered vaginally. Both the mother and fetus received intensive care, and the mother recovered. In contrast, the fetus's course worsened due to progressive abdominal distension. Although exploratory laparotomy was attempted, the operation was not successful. The infant died five days after birth. CONCLUSION: Recognition of the predisposing factors in fetal meconium peritonitis and immediate referral to a tertiary medical center, where specialists are available, could help physicians determine an accurate diagnosis and might improve prognosis.
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3/11. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound.

    To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis.
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4/11. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases.

    Two cases with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. This is a rarely encountered syndrome in neonates and 45 cases have earlier been reported. The disease is usually lethal and it now seems clear that MMIHS is an autosomal recessive disorder. The enlarged bladder, typical of this syndrome, is however easy to define by ultrasound, sometimes even in early pregnancy. The concomitant finding of a dilatation of the urinary tract and the absence of oligohydramnios may lead the physician to suspect the diagnosis. Because of the information available from sonography, appropriate investigations can be undertaken immediately after delivery. Prenatal ultrasound examination in subsequent pregnancies is recommended.
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5/11. Evaluation of fetal arrhythmias.

    Fetal arrhythmias occur in approximately 1 to 3 percent of all pregnancies. Successful management depends on early identification and evaluation. Arrhythmias are classified as irregular, bradycardiac or tachycardiac. With proper monitoring, fetuses with irregular arrhythmias can usually be delivered by family physicians. For fetuses with bradyarrhythmias or tachyarrhythmias, referral to a high-risk specialists for ongoing fetal surveillance and delivery is necessary.
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6/11. In utero losartan withdrawal and subsequent development of fetal inferior vena cava thrombosis.

    BACKGROUND: Angiotensin receptor blockers are antihypertensive medications prescribed by a wide variety of physicians, especially for patients with coexistent diabetes mellitus. Angiotensin receptor blockers, as well as angiotensin-converting enzyme inhibitors, are contraindicated in pregnancy. CASE: We describe the reversal of losartan-induced oligohydramnios at 27 weeks of gestation with subsequent development of fetal thrombosis and possible mechanism of action for this extremely rare in utero complication. CONCLUSION: This theory may help explain the fetal stillbirths in women taking this class of medications during the second and third trimester of pregnancy.
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7/11. Ultrasonographic diagnosis of a fetal abdominal mass: a case of a mesenchymal liver hamartoma and a review of the literature.

    A case of a prenatally recognized hepatic mesenchymal hamartoma is presented and the literature reviewed. These tumors are benign and usually present in early infancy with symptoms that are related to the mass effect on adjacent organs. Radiologic methods used in the past to image this tumor include angiography and ultrasound. However, there is no specific radiologic finding, and, therefore, the diagnosis is usually made during surgery. Once the tumor is removed, the prognosis is generally good. With the increasing use of high resolution ultrasound in prenatal diagnosis, this rare tumor should be considered in the differential diagnosis of any multicystic mass found in the fetal abdomen. The recognition of a mass should then alert the physician to the need for early neonatal intervention.
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8/11. Follow-up study of survivors of fetal and early onset neonatal listeriosis.

    Although fetal or neonatal infection with listeria monocytogenes is known to have a high mortality, the longterm morbidity is unknown. Clinical sequelae of fetal or neonatal listeriosis were studied in eight survivors of such infections at a mean age of 16 months corrected for prematurity. A developmental and health history was taken and a Denver Developmental Screening Test and neurological exam performed on each subject. Two infants were seen again and the remainder had developmental and health histories obtained from their mothers and primary physicians at a mean age of 31 months. Six of the eight infants studied had no evidence of neurodevelopmental sequelae. Four of these six had mild or no clinical disease after birth. However, two of the six intact survivors, both born prematurely, were critically ill in the early postnatal period. The two remaining infants had neurodevelopmental handicap. In addition to being prematurely born with severe perinatal disease, these two had CNS complications in the newborn period, both with meningitis and one with intraventricular hemorrhage. Although intelligence in both appeared to be normal, one had mild and the other moderate spastic diplegia. Severe perinatal disease, including fetal or neonatal death, appeared to be related to delayed or no antepartum antibiotic therapy of mothers. Premature delivery appeared to be an important factor both in the severity of disease and in the development of longterm handicap. There were no deaths and no longterm sequelae in infants born at a gestational age greater than 37 weeks. However, in the absence of meningitis and other CNS complications, it would appear that the prognosis even for prematurely born survivors of perinatal listeriosis is very good.
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9/11. Aggressive intrapartum management of lethal fetal anomalies: beyond fetal beneficence.

    OBJECTIVE: To evaluate management recommendations from the current literature for patients whose fetuses are certain to have lethal anomalies or absent (or virtually absent) cognitive function. These recommendations include termination of pregnancy or, for cases in the third trimester, nonaggressive intrapartum management, avoiding cesarean delivery for fetal indications. methods: We report our experience with several patients who voiced opposition to nonaggressive intrapartum care and present a rationale for selectively aggressive, intrapartum management for some of these cases. RESULTS: Four women whose fetuses had lethal anomalies requested aggressive intrapartum management. For three of the four, standard aggressive management of labor resulted in vaginal delivery of live-born infants who died shortly thereafter. The patients found comfort in the live births. The fourth patient accepted a recommendation to avoid fetal monitoring during labor, and the fetus was stillborn. This patient found the intrapartum experience to be very stressful. CONCLUSION: When a patient's desire to avoid an intrapartum stillbirth is strong enough that substantial psychological harm might result from one, the physician's beneficence-based obligation to her and respect for maternal autonomy justify selectively aggressive intrapartum therapy, even if no beneficence-based obligation to the fetus exists.
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10/11. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism.

    The findings of hyperechoic and enlarged fetal kidneys on routine antenatal ultrasonography is a non-specific finding that alerts the physician to a differential diagnosis of various genetic and non-genetic disorders, including fetal polycystic disease and Beckwith-Wiedeman syndrome. Detection of fetal or neonatal polycystic kidneys should alert the physician to the possibility of an associated lethal autosomal recessive inborn error of fatty acid metabolism known as multiple acyl-CoA-dehydrogenase defect (MADD). We report a case of fetal nephromegaly associated with rare inborn error of MADD. This case highlights the need for appropriate laboratory investigation of hyperechoic, enlarged fetal kidneys, and neonatal polycystic disease. The association of MADD with postnatally diagnosed polycystic disease of the kidney has been reported. The antenatal detection of nephromegaly followed by the subsequent postnatal diagnosis of MADD has not been previously reported. MADD should be considered in the differential diagnosis of this antenatal finding. Appropriate diagnostic procedures should be conducted, either pre- or postnatally, in order that appropriate genetic counseling may be provided for this autosomal recessively inherited disorder.
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