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PubMed1993

Prenatal diagnosis and treatment strategy for congenital mesoblastic nephroma.

By means of the recent sophisticated technology regarding prenatal diagnosis, congenital mesoblastic nephroma (CMN) has become detectable before birth, or at a younger age than previously. Recently we treated an infant with a huge CMN in whom fetal asphyxia and tumor rupture occurred during the perinatal observation period after prenatal detection. Emergency surgery was required, and the postoperative course was complicated. The treatment strategy of the perinatal care team should focus on (1) reliable maternal transportation (2) continuous monitoring of fetal condition including cardiovascular status, (3) control of polyhydramnios to avoid premature labor, and (4) elective surgery at a stable or stabilized condition. Emergency surgery should be performed when circulatory disturbance, respiratory distress, and/or impending rupture are suspected.

Adult↗
PubMed1993

Maintenance of the placental circulation to evaluate and treat an infant with massive head and neck hemangioma.

A maternal ultrasound was obtained because of polyhydramnios at approximately 30 weeks gestation. The study identified a fetus with a large, solid mass involving the neck and left face. Because of the concern for airway obstruction, we sought an alternative to normal delivery or routine cesarean section. At 35.5 weeks gestation the mother underwent deep halothane anesthesia followed by cesarean section. Initially, only the head and neck of the fetus were delivered and a large hemangioma was noted to involve the anterior and left neck and all of the left face to the left eye. While maintaining placental and umbilical cord circulation, the infant was successfully nasotracheally intubated. The umbilical cord was divided and the delivery completed. At 1 week of age the infant underwent partial excision of that portion of the hemangioma overlying the trachea and the left external carotid artery was ligated. The infant was successfully extubated 12 days later. In the first 4 months of life she had three episodes of platelet trapping requiring high-dose systemic steroid therapy. Beginning at 8 months of age she was begun on intralesional injections of a 50/50 solution of triamcinolone and betamethasone with a marked reduction in the size of the lesion. Preservation of the placental circulation during delivery resulted in the avoidance of a potential hypoxic or fatal event. Intermittent intralesional steroid injections appear to have played a role in the marked reduction in the size of this large subcutaneous head and neck hemangioma.

Adult↗
PubMed1994

Lobar lung transplantation as a treatment for congenital diaphragmatic hernia.

The mortality rate for infants severely affected with congenital diaphragmatic hernia (CDH) remains high despite significant advances in surgical and neonatal intensive care including delayed repair and extracorporeal membrane oxygenation (ECMO). Because of the increasingly successful experience with single-lung transplantation in adults; this approach has been suggested as a potential treatment for CDH infants with unsalvageable pulmonary hypoplasia. The authors report on a newborn female infant who was the product of a pregnancy complicated by polyhydramnios. At birth, she was found to have a right-sided CDH and initially was treated with preoperative ECMO, followed by delayed surgical repair. Despite the CDH repair and apparent resolution of pulmonary hypertension, the infant's condition deteriorated gradually after decannulation, and escalating ventilator settings were required as well as neuromuscular paralysis and pressor support because of progressive hypoxemia and hypercarbia. A lung transplant was performed 8 days after decannulation, using the right lung obtained from a 6-week-old donor. The right middle lobe was excised because of the size discrepancy between the donor and recipient. After transplantation, the patient was found to have duodenal stenosis and gastroesophageal reflux, which required duodenoduodenostomy and fundoplication. The patient was discharged from the hospital 90 days posttransplantation, at 3 1/2 months of age. Currently she is 24 months old and doing well except for poor growth. This case shows the feasibility of single-lung transplantation for infants with CDH, and the potential use of ECMO as a temporary bridge to transplantation. Lobar lung transplantation allowed for less stringent size constraints for the donor lung.

Extracorporeal Membrane Oxygenation↗
PubMed1994

Improved survival for congenital diaphragmatic hernia, based on prenatal ultrasound diagnosis and referral to a combined obstetric-pediatric surgical center.

Between January 1990 and January 1993, 36 patients with antenatal ultrasound (US) diagnosis and/or postnatal diagnosis of congenital diaphragmatic hernia (CDH) were referred to the authors' high-risk obstetric and pediatric hospital. Among the 36, there were four spontaneous abortions (11%), five deaths after live births (14%), one false-positive US examination, and 26 patients who underwent surgery, 23 of whom survived (66% overall, 74% of live births, and 89% postoperatively). Only one survivor had extracorporeal membrane oxygenation (ECMO). Thirty-five ultrasound examinations were performed in 24 patients; there were 18 true-positives results (51%), one false-positive (3%), and 16 false-negatives (46%). In this series, there were 25 left-sided CDHs, eight right-sided, one bilateral, and one central. Of the four right-sided hernias having antenatal US, only one was diagnosed prenatally; 15 of the 17 left-sided CDHs were diagnosed correctly (88%). All 19 babies with the prenatal diagnosis were born at the authors' institution. US diagnosis before 25 weeks' gestation and polyhydramnios separately resulted in a mortality rate of only 50%. Patients born at this institution tend to be sicker than those transferred from elsewhere, as reflected by the lower 1- and 5-minute Apgar scores (3.7 v 6.9, P < .001, and 5.4 v 6.9, P < .16, respectively), lower gestational ages (37.0 v 39.2 weeks, P < .007), and lower birth weights (2,525 v 3,049 g, P < .02). Nevertheless, transferred patients had a mortality rate (3 of 15 patients, 20%) similar to that of nontransferred patients (5 of 20 patients, 25%).(ABSTRACT TRUNCATED AT 250 WORDS)

Combined Modality Therapy↗
PubMed1995

Devascularization and staged resection of giant sacrococcygeal teratoma in the premature infant.

Sacrococcygeal teratoma identified in utero is associated with 50% fetal demise, which is caused by hyperdynamic cardiac failure, hemorrhage, and polyhydramnios-induced preterm labor. A premature infant (26 weeks' gestation) with prenatally diagnosed sacrococcygeal teratoma was managed successfully with initial devascularization to control the hyperdynamic state, followed by staged resection.

Arteries↗
PubMed1993

Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature.

The congenital variant of myotonic dystrophy (CMD) is a severe disease with a high mortality. CMD is only seen in the offspring of mothers who themselves have myotonic dystrophy (MD). We present 13 patients with clinical symptoms of CMD and neuropathological findings of five of them. The most characteristic symptoms during pregnancy are reduced fetal movements and polyhydramnios. In the neonatal period generalized hypotonia, facial weakness, hyporeflexia, feeding and respiratory difficulties are present. Most of the children have a characteristic tented upper lip. The symptoms greatly diminish after a few weeks. All the children who survive the neonatal period are psychomotor retarded. On pathological examination no specific features were found in muscle tissue or in the brain. The pathogenesis and the cause of the maternal inheritance of CMD is not clear. A review of the literature is provided.

Brain↗
PubMed1984

Case report. Intra-uterine demonstration of bowel duplication by ultrasound.

In this case report a patient is presented, showing large sonolucent areas inside the fetal abdomen at 20 wk of gestation. Gastrointestinal (GI) tract obstruction was suspected. There was no polyhydramnios. After premature delivery the child showed marked abdominal distention, but stayed in good condition without signs of GI tract obstruction. At laparotomy, a 30 cm long, distended duplication of the terminal ileum was removed. Postoperative course was uneventful.

Adult↗
PubMed1987

X-linked centronuclear myopathy as a cause of floppy baby.

Two families with X-linked recessive centro-nuclear myopathy (XLR-CNM) are described. Evidence is accumulating that XLR-CNM forms a distinct entity, in contrast to the commoner later-onset forms. Family history often provides a clue to the diagnosis. Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families with five affected male babies who all died. An isolated case with severe fetal brady-arrhythmias in combination with acute increase in polyhydramnios is mentioned. The neonatal mortality in all recorded cases is 80 percent, with respiratory insufficiency as the cause of death. An attempt is made to establish early prenatal diagnosis and the possibility of carrier detection is briefly discussed.

Adult↗
PubMed1987

Antenatal ultrasonographic diagnosis of trisomy 18 (Edwards syndrome).

A 35-yr-old G7P6A0 presented at 28 weeks of gestation with an acute polyhydramnios. On ultrasonographic examination the diagnosis of trisomy 18 in the fetus was suspected. This was confirmed by chromosome analysis of the cultured amniocytes. The value of a systematic ultrasonographic examination, especially in every abnormal pregnancy, is briefly discussed.

Adult↗
PubMed1988

Validity of a selective policy for ultrasound examination of fetal congenital anomalies.

The validity of the Stage II ultrasound examination for fetal congenital anomalies has been determined. Only pregnancies that fulfilled certain criteria, i.e. obstetric complications (IUGR, polyhydramnios, immature-premature uterus contractions), or women with a history of congenital anomalies qualified. Five hundred and fifteen pregnant women were examined. Follow-up evaluation was available on 481 pregnancies (494 neonates). Of these children 102 (21%) appeared to have one or more structural anomaly following birth. In 88 of them at least one congenital anomaly had been detected antenatally by the Stage II ultrasound examination. The sensitivity of the ultrasound scanning procedure was 86%, the specificity 100%. The validity of the applied selection criteria for the Stage II ultrasound examination was studied in 2059 women who had delivered consecutively in our hospital. One hundred and eighty-one had the Stage II ultrasound examination performed. Thirty-six of these 181 women delivered an infant with a structural anomaly (20.0%). The remaining 1878 did not qualify for the Stage II ultrasound examination. From these pregnancies 24 infants were born with a structural anomaly (1.3%). The sensitivity of the applied selection criteria was 60% and the specificity 93%. The incidence of congenital anomalies was strikingly higher in pregnancies scanned for reasons of obstetric complications than in the pregnancies scanned for a history of congenital anomalies. The necessity of the Stage II ultrasound examination in every pregnancy is questioned on the basis of the results.

Congenital Abnormalities↗
PubMed1991

Cystic adenomatoid malformation of the lung: an obstetric and ultrasound perspective.

Between 1986 and 1990, seven women were found to have fetuses with an abnormal antenatal ultrasound appearance of the chest and lungs suggestive of congenital cystic adenomatoid malformation of the lung (CCAM). All were confirmed by pathology. Cystic spaces were only visible in those women with macrocystic disease (Stocker types 1 and 11) whilst increased echogenicity of affected lung tissue and mediastinal deviation were seen in all types. Cystic adenomatoid malformation of the lung was also found in one woman with a raised maternal serum alpha-fetoprotein. The appearances are distinctive, and should be sought in all cases of polyhydramnios, fetal ascites and raised maternal serum alpha-fetoprotein.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1995

A case of tracheal agenesis delivered of a patient with mosaic Turner's syndrome.

We describe a female infant with tracheal agenesis associated with severe complicated malformations including the cardiovascular system. The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios. The patient died 2 days after birth and the autopsy disclosed tracheal agenesis and associated multiple anomalies.

Abnormalities, Multiple↗
PubMed1994

Remarks about the prognosis in case of antenatal diagnosis of gastroschisis.

We report our experience of 15 cases of gastroschisis which occurred between 1981 and 1993. All but one were diagnosed antenatally by ultrasound between 16 and 32 weeks of pregnancy. We made a termination of the pregnancy in 3 cases, for multiple malformations in 2 cases and one case of very early premature rupture of the membranes (PROM). When checked (11 cases), the karyotype was normal. We made a cesarean section in 11 cases: the indication was a complication for 6 (fetal distress, PROM, polyhydramnios, large dilatation of the gut). We noted growth retardation in 7 newborns and prematurity in 5/12 (mean gestational age of 36.8 weeks). The preoperative study of the gut noted 5 cases with intestinal damage and one case of complete necrosis of the gut. The global prognosis is not as good as usual, with a perinatal mortality of 41.6% (5/12). We discuss this latter point and examine the literature.

Abdominal Muscles↗
PubMed1995

Ablation of acardiac twin by alcohol injection into the intra-abdominal umbilical artery.

BACKGROUND: Twin reversed arterial perfusion sequence is a rare complication of monochorionic twinning, in which the normal pump twin perfuses the abnormal acardiac twin in a reversed fashion via an artery-to-artery placental anastomosis. Mortality in the normal twin exceeds 50% as a result of preterm labor, polyhydramnios, and congestive heart failure. CASE: A twin pregnancy complicated by the twin reversed arterial perfusion sequence developed early hemodynamic decompensation in the pump twin with increasing size of the acardiac twin. Ablation of the acardiac twin at 23 weeks' gestation was achieved successfully by injecting 1 mL of absolute alcohol into the intra-abdominal portion of the single umbilical artery. CONCLUSION: Direct ultrasound-guided intravascular injection of absolute alcohol is an easy and straightforward technique to occlude circulation to the acardiac twin. This vessel can be identified easily by color Doppler ultrasonography away from the main venous trunk. Selection of this target, rather than occlusion at the level of the umbilical cord, could reduce the risks of cord accidents and inadvertent intravenous injection of the ablative material.

Abdomen↗
PubMed1995

Cloacal exstrophy sequence: an exceptional ultrasound diagnosis.

OBJECTIVE: To establish sonographic criteria for an early prenatal diagnosis of cloacal exstrophy sequence, an extremely rare congenital malformation. METHODS: We assessed all cases of anterior midline abdominal wall defects occurring between November 1, 1986, and May 31, 1993. The charts of those with cloacal exstrophy sequence were reviewed thoroughly. The sonographic findings in each case of cloacal exstrophy sequence were evaluated and compared with the ultrasonic manifestations in other types of anterior abdominal wall defects. RESULTS: During the study period, six cases of cloacal exstrophy were diagnosed by ultrasound and confirmed by postnatal autopsy examination. Two of the cases were in different twin gestations. There were 58,288 deliveries during the study period; 665 (1.14%) major malformations were diagnosed ultrasonographically. Identical specific sonographic signs appeared in all six cases of cloacal exstrophy. These included a large infraumbilical, anterior midline defect, a protruding large omphalocele, an absent bladder, a narrowed thorax, a distorted spine, a large sacral meningomyelocele, and bilateral clubfeet. In all cases, the fetal bowel was floating in a large amount of ascites within the omphalocele sac. Polyhydramnios was present in four of the six cases. CONCLUSION: Based on our sonographic criteria, we believe that an accurate prenatal diagnosis of cloacal exstrophy sequence is feasible, even in the first trimester of pregnancy. These signs distinguish cloacal exstrophy from other types of midline anterior abdominal wall defects, ie, gastroschisis, amniotic band syndrome, and limb-body wall complex (body-stalk syndrome).

Adult↗
PubMed1995

Prenatal diagnosis of liver calcifications.

OBJECTIVE: To report our experience with the prenatal diagnosis of hepatic calcification. METHODS: Routine ultrasonography was done in 24,600 consecutive pregnancies of 14-26 weeks' gestation. Detailed sonographic studies, amniocenteses, and chromosomal, bacteriologic, virologic, and serologic investigations were performed in each case with calcifications. RESULTS: Hepatic calcifications were diagnosed in 14 fetuses--an incidence of one in 1750--at gestational ages of 15-26 weeks. Twelve fetuses had one or two calcified foci, one fetus had four scattered foci, and one had diffuse calcification of the liver as well as peritoneal and intestinal calcifications. Three fetuses (21%) had associated severe malformations: two with trisomy 18 and one with dwarfism and hydronephrosis; these fetuses were aborted. One fetus with polyhydramnios and calcifications within the bowel died in utero; an autopsy was not allowed, but the external examination was normal. No case had serologic evidence of recent infection with Toxoplasma, rubella virus, cytomegalovirus, herpes simplex virus, or syphilis. Amniotic fluid (and neonatal urine where applicable) cultures for cytomegalovirus were negative. Ten fetuses were normal at birth, and nine of them were followed-up for a period of 4 months to 4.5 years. All were found to be healthy and thriving children. CONCLUSION: Our experience indicates that fetal hepatic calcification is not a rare ultrasonographic finding, and each fetus with such calcifications should be thoroughly evaluated for malformations, chromosomal anomalies, and viral infection. If the work-up is negative, subsequent neonatal outcome carries a good prognosis.

Calcinosis↗
PubMed1995

Expectant management of twin pregnancies discordant for anencephaly.

OBJECTIVE: To study the clinical course and perinatal outcome of twin pregnancies discordant for anencephaly, without selective termination. METHODS: We conducted a descriptive retrospective study of 14 cases of dichorionic twin pregnancies discordant for anencephaly, which were managed expectantly in five Israeli perinatal centers. RESULTS: None of the patients miscarried. The mean gestational age at delivery was 35.9 +/- 2.8 weeks (range 29-39). Only three patients (21%) delivered before 35 weeks' gestation. Polyhydramnios occurred in six of the anencephalic amniotic sacs. Nevertheless, most occurrences were mild and none necessitated therapeutic amniocentesis. The mean birth weight of the normal fetus was 2610 +/- 690 g (range 1100-3200). One apparently normal twin had a cardiac anomaly and died shortly after birth, and one was electively delivered at 33 weeks because of severe intrauterine growth retardation and subsequently developed cerebral palsy. The rest had normal short- and long-term outcomes. CONCLUSION: Expectant management of a twin gestation discordant for anencephaly diagnosed at the second trimester is associated with a favorable outcome for the unaffected fetus.

Adult↗
PubMed1996

Prenatal ultrasonographic findings associated with short bowel syndrome in two fetuses with gastroschisis.

BACKGROUND: Studies on the importance of prenatal ultrasonographic findings in gastroschisis have shown variable significance in predicting neonatal outcome. We report two cases of short bowel syndrome and poor neonatal outcome that had interesting prenatal ultrasonographic findings. CASES: Gastroschisis was confirmed in both cases. Throughout gestation, the extra-abdominal bowel remained unchanged in size, hyperechoic, and clustered. Amniotic fluid volume increased with increasing intra-abdominal bowel dilation. Both fetuses were delivered prematurely and found to have short bowel syndrome incompatible with life. CONCLUSION: Prenatal ultrasonographic findings of hyperechoic and clustered extra-abdominal bowel with progressive intra-abdominal bowel dilation and associated polyhydramnios may be indicative of high bowel obstruction, atresia, and poor neonatal outcome. Families should be counseled cautiously.

Abdominal Muscles↗