Congenital cystic adenomatoid malformation of the lung in a fetus

Occasionally the intrauterine ultrasonography routinely done in the 21st gestational week pronoinced fetal ascites and intrathoracic tumour have been visualized. Spontaneous abortion of a male fetus in the 22nd gestational week. In necropsy the solid form of congenital cystic adenomatoid malformation of the whole right lung could be diagnosed.     

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is-even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis-to carry out a directed diagnosis including a fetal karyotyping.     

Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung

Background  

Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management.     

Congenital cystic adenomatoid malformation in the fetus: a hypothesis of its development

We present a case of congenital cystic adenomatoid malformation of the lung diagnosed at 34 weeks of gestation in the setting of polyhydramnios. The fetus had CCAM in the L lung, with mediastinal shift to the right and ascites. The neonate underwent drainage of cysts and subsequent left lung lobar resection with improvement in respiratory function. The pathology of CCAM is reviewed in detail. We speculate the role of alcohol as a teratogen through retinoic acid at 8-10 weeks of gestation when fetal lungs are actively developing.     

Waxing and waning hyperinflation in congenital cystic adenomatoid malformation of the lung.

This report describes a newborn with respiratory distress, waxing and waning left lung hyperinflation, and pulmonary hemorrhage. This atypical presentation of congenital cystic adenomatoid malformation of the lung has not been previously reported, posed a major diagnostic problem, and delayed potentially lifesaving surgery.     

Type II congenital cystic adenomatoid malformation of the lung with a mediastinal shift. A case report.

We report a case of an early (22-week) prenatal diagnosis of type II congenital cystic adenomatoid malformation of the lung complicated by a mediastinal shift. Detailed ultrasound examination of the fetus, including fetal Doppler velocimetry and echocardiography, and diagnostic amniocentesis were normal. There was a gradual, spontaneous resolution of the mediastinal shift and improvement in the lung lesions. The intrapartum and early neonatal clinical courses were uneventful.     

Nonimmune fetal hydrops caused by bilateral type III congenital cystic adenomatoid malformation of the lung at 17 weeks' gestation.

Type III congenital cystic malformation of the lung with nonimmune hydrops and oligohydramnios was diagnosed at 17 weeks by ultrasonography. Massive fetal cardiac compression with probable associated left- and right-sided failure causing both the oligohydramnios and the ascites, respectively, was thought to be the underlying pathophysiologic mechanism of this unusual clinical presentation. Pathologic examination after termination of the pregnancy confirmed the prenatal diagnosis.     

Perinatal magnetic resonance fetal lung volumetry and fetal lung-to-liver signal intensity ratio for predicting short outcome in isolated congenital diaphragmatic hernia and cystic adenomatoid malformation of the lung

AIM: To evaluate the usefulness of magnetic resonance imaging (MRI) in predicting the risk of lethal pulmonary hypoplasia in fetuses. METHODS: The subjects consisted of 15 fetuses (29-40 weeks' gestation), including fetuses with major malformation diagnosed on prenatal ultrasonography. MRI using a 1.5 T magnet and half-Fourier acquisition single-shot fast spin-echo sequences were applied to all fetuses at 29-36 weeks. Fetal lung-to-liver signal intensity ratio (LLSIR) was calculated by medians of region-of-interest analysis; estimated fetal bodyweight (FBW), by ultrasonography; and estimated fetal lung volume (FLV), by planimetric measurement of total lung volume. FLV/FBW was also calculated. The presence of the pulmonary hypoplasia in neonates was identified based on clinical and anatomico-pathological findings. Differences in LLSIR and FLV/FBW were analyzed for surviving and non-surviving neonates. RESULTS: Ten surviving neonates had a median LLSIR of 3.00, range: 1.60-4.40, while that in seven non-surviving neonates was 2.21, range: 0.70-3.72; no significant difference was found between the groups. Surviving neonates had a median FLV/FBW of 11.4, range: 7.1-15.7, while that in non-surviving neonates was 4.4, range: 3.1-5.7. FLV/FBW in non-surviving neonates was significantly lower than that of the FLV/FBW for surviving fetuses (P<0.05). CONCLUSIONS: Low FLV/FBW may be useful in prenatally predicting mortality in fetuses with pulmonary hypoplasia.     

Persistent pulmonary hypertension in a neonate with cystic adenomatoid malformation of the lung following lobectomy: survival with prolonged extracorporeal membrane oxygenation therapy.

A full-term neonate is reported with congenital cystic adenomatoid malformation of the lung treated by lobectomy with development of pulmonary hypertension. The infant was successfully treated with extracorporeal membrane oxygenation (ECMO) for persistent pulmonary hypertension, which developed postoperatively. An 18-day course of venovenous ECMO was necessary to effectively reverse the severe pulmonary hypertension. This was probably a result of significant pulmonary hypoplasia of the compressed lung. Although not all congenital cystic adenomatoid malformations of the lung are associated with pulmonary hypoplasia and persistent pulmonary hypertension, this is one case where severe pulmonary hypertension developed secondary to a mass effect by a large lesion in the chest.     

Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.     

Congenital cystic adenomatoid malformation of the lung: antenatal ultrasound findings and fetal-neonatal outcome. Fifteen years of experience

Seventeen cases of congenital cystic adenomatoid malformation of the lung (CCAM) are reported. They were followed up over a period of 1 month to 15 years. Diagnosis was made by prenatal ultrasound. Our purpose was to evaluate the fetal-neonatal outcome and the prognostic elements observable through ultrasound techniques, and to compare all types of CCAM. The outcome observed ranged from total prenatal resolution to postnatal spontaneous regression of the lesion, to complications due to the presence of nonimmune fetal hydrops (NIFH), intrauterine death and the necessity of surgical intervention. In our experience only hydrops represented a negative predictor of outcome since death occurred in all cases with this pathology. In the absence of NIFH, counselling should stress the prevalence of a positive outcome, even in cases of surgical intervention.     

Congenital cystic adenomatoid malformation: accuracy of prenatal diagnosis, prevalence and outcome in a general population

OBJECTIVES: Most available data regarding accuracy of prenatal diagnosis, prevalence and outcome of congenital cystic adenomatoid malformation (CCAM) are derived largely from tertiary referral centres and may not reflect general population rates. We aimed to describe the accuracy of prenatal diagnosis, ascertain the population prevalence and post-natal outcome for cases of suspected CCAM. METHODS: Retrospective collection of prenatal and paediatric data for cases of suspected CCAM notified to the Trent Congenital Anomalies Register 1997 to 2001. RESULTS: Thirty-seven cases of CCAM were suspected prenatally. Twenty-one cases were confirmed post-natally as having a CCAM (positive predictive value 57%). Eighteen of the 21 cases were delivered at term as live births, 15 of which have undergone successful surgery to date. Thirteen of the 37 cases had apparently resolved by delivery. Three further cases were subsequently found to be cases of lung sequestration or lobar emphysema. Five cases of CCAM were detected after delivery (sensitivity of prenatal detection 81%). The population prevalence at delivery was 9.0 per 1,00,000 total births. Five confirmed cases of CCAM developed hydrops, three required in utero intervention and delivered as live births at term, one was terminated and one died in utero. The overall mortality in the confirmed cases of CCAM was 23% of which the majority were terminations of pregnancy. CONCLUSIONS: Problems of diagnostic accuracy and apparent resolution of CCAM render counselling difficult, although our data suggest that the prognosis is better than others have reported. Confirmation of the diagnosis in the neonatal period is vital in order to obtain the true population prevalence figures and to interpret outcome data.     

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

ObjectiveTo present a prenatal diagnosis of familial tuberous sclerosis complex (TSC).Case ReportA 29-year-old woman was referred to our institution for amniocentesis at 24 weeks of gestation because of congenital anomaly. The fetus had been found to have an intrathoracic echogenic mass, suspicious of type III congenital cystic adenomatoid malformation of the lung (CCAML). The woman presented with a medical history of epilepsy and had received anticonvulsants but did not disclose the disease entity associated with the epilepsy. Amniocentesis revealed a karyotype of 46,XX. A fetal ultrasound examination at 26 weeks of gestation reported the diagnosis of type III CCAML. At 30 weeks of gestation, magnetic resonance imaging showed multiple cortical tubers in the brain along with an intracardiac mass suspicious of cardiac rhabdomyoma, and a diagnosis of fetal TSC was made. A prenatal ultrasound examination at 30 weeks of gestation revealed multiple cardiac tumors and multiple cortical tubers in the brain. The mother admitted that she had been diagnosed to have TSC. Molecular analysis of the cultured amniocytes and the parental blood showed a splicing mutation of c.2639+1G>C in the splice donor site of intron 22 of TSC2 gene in the mother and the fetus.ConclusionPrenatal diagnosis of an intrathoracic lesion with a family history of parental epilepsy should raise a suspicion of fetal cardiac rhabdomyoma and TSC, and prompt magnetic resonance imaging investigation and molecular genetic analysis if necessary.