Are bilateral fetal lung masses double trouble?

OBJECTIVES: To examine the perinatal natural history of bilateral fetal cystic lung masses. METHODS: The records of a tertiary medical center over a 3-year period were reviewed for cases of fetal bilateral pulmonary masses. RESULTS: Three of 98 fetuses referred for evaluation over a 3-year period from September of 1995 to August of 1998 had bilateral lung lesions. Two of these cases resulted in live births, while one, associated with hydrops, resulted in death after preterm delivery. CONCLUSIONS: Similar to prenatally diagnosed unilateral lung lesions, hydropic fetuses with bilateral cystic lung lesions have a poor prognosis. Nonhydropic fetuses, however, may be asymptomatic despite persistent lesions on postnatal CT scan. These observation may prove helpful for prenatal counseling for these rare lesions.     

Congenital cystic adenomatoid lung malformation: report of two cases and literature review

Congenital cystic adenomatoid malformations of the fetal lung (CCAM) are rare embryonic developmental abnormalities. They are considered as benign hamartomatous or dysplastic lung tumors characterized by overgrowth of the terminal respiratory bronchioles at the expense of the saccular spaces. A minority of cases may not be identified by prenatal imaging techniques and the pulmonary lesions are recognized postnatally. Two cases of congenital cystic adenomatoid malformation of the fetal lung diagnosed in our institution during the last four years are reported. The ultrasonographic and pathologic findings of these cases are discussed.     

Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy

OBJECTIVE: Nonseptated cystic hygromata of the fetal neck in midtrimester of pregnancy have been associated with chromosomal and structural malformations. Consequently, fetal karyotyping is frequently offered. We describe 18 families in which 18 pairs of siblings were affected by transient nonseptated cystic hygromata in utero. METHODS: Over a seven-year period, 18 families came to our attention, with a recurrent diagnosis of fetal nonseptated cystic hygromata in two subsequent pregnancies. Detailed anatomic surveys by transvaginal ultrasound were performed between 14 to 16 weeks' gestation on the basis of self-referral. Sonographic markers for fetal aneuploidy were specifically looked for. Nonseptated cystic hygroma was diagnosed when unilateral or bilateral cystic dilations in the anterolateral aspect of the fetal neck were present, as described by Bronshtein et al. (1989). All patients underwent amniocentesis, fetal echocardiography, and transabdominal follow-up ultrasound scan at 22 to 24 weeks' gestation. RESULTS: Thirty-six sibling fetuses with isolated nonseptated hygromata (unilateral n = 5; bilateral n = 31) were identified. Amniocentesis revealed normal karyotypes in all 36 fetuses, including 20 males and 16 females. Fetal echocardiograms and neonatal pediatric examinations were normal. Sonographic resolution of the cystic hygromata was noted in all cases at the 22 to 24 weeks' follow-up scan. One pregnancy, producing a female newborn, was conceived by a remarried mother. All others were reportedly conceived by the same partners. Probability calculations suggest that if our findings were explained by chance alone, a population base of 367,000 pregnancies would have to be scanned in order to find 18 pairs of siblings with nonseptated cystic hygromata. CONCLUSION: The familial occurrence and identical natural history of the cystic lesions in utero suggest the presence of an inheritable developmental syndrome affecting the lymphatic system in utero, but without long-term sequelae.     

Cystic adenomatoid malformation of the lung causing hydrops fetalis: case report and review of the literature

Objective  Fetal congenital cystic adenomatoid malformation (CCAM) is a rare lung abnormality with a highly variable prognosis depended on the presence of fetal hydrops and the size of the cysts. In case of fetal hydrops the prognosis is fatal without intervention. Methods and design  Case report and literature review. Setting  We report on the ultrasound and pathological findings of a hydropic fetus due to a CCAM Type II at 22 weeks of gestation. Conclusions  Congenital cystic adenomatoid malformation is a rare fetal lung disease with an excellent prognosis in the absence of fetal hydrops. CCAM associated with fetal hydrops carries a grave prognosis but survival rates of 70% can be achieved by thoraco-amniotic drainage in those with macrocystic lesions. S. Schott, G. Meyberg-Solomayer, and K. O. Kagan have contributed equally to the senior authorship.     

Prenatal diagnosis of congenital cystic adenomatoid lung malformation: case report and review of the literature

Congenital cystic adenomatoid malformation of the fetal lung is an extremely rare developmental abnormality characterized by excessive overgrowth of the terminal respiratory bronchioles at the expense of the saccular spaces. We present a case of a 33-year-old, gravida 2, para 1, woman with congenital cystic adenomatoid lung malformation-type II diagnosed by ultrasound at the 20th week of gestation. On the right side of the chest an area with a maximum diameter of 18.5 mm and with small cystic lesions was recognized. The maximum diameter of the cysts was 0.5 cm. There were no other fetal abnormalities. The pregnancy was terminated and the postmortem examination confirmed the ultrasonographic findings. The cysts had the appearance of bronchiolus-like structures and were lined with cuboidal and columar epithelium. Distended alveoli were present, while the airways were normal in structure. No other congenital anomalies were found. In conclusion, in this study we describe the ultrasonographic and pathologic findings of an unusual case of congenital cystic adenomatoid malformation of the fetal lung.     

胎儿肺囊性腺瘤的宫内诊断和治疗

胎儿肺囊性腺瘤(CCAM)可以在中孕期通过超声检出,多数可在妊娠期消失或缩小,伴有其他畸形者预后不良。超声动态观察有助于判断预后。CCAM伴发胎儿水肿是胎儿窘迫、胎死宫内的前兆。对于CCAM伴发胎儿水肿,可行宫内治疗。对于没有呼吸症状的新生儿,产后CT检查有助于明确病变及确定随访或择期手术。     

Prenatal interventions for fetal lung lesions

The widespread availability of high resolution ultrasound equipment and almost universal routine anatomy scanning in all pregnant women in the developed world has lead to increased detection of abnormalities in the fetal thorax. Already in the 1980s, large pleural effusions and significant macrocystic lesions in the fetus were easily detected on ultrasound. However, smaller lung tumours were often missed. Nowadays, fetal medicine centres receive many referrals for evaluation of fetal lung lesions, of which the most common are congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Almost invariably, both the parents and the referring physicians experience anxiety after detection of large lung masses in the fetus. However, the vast majority of the currently detected fetal lung lesions have an excellent prognosis without the need for prenatal intervention. In the small group of fetuses in which the prognosis is poor, almost exclusively those with concomitant fetal hydrops and cardiac failure, several options for fetal therapy exist, often with a more than 50% survival rate. Indications, techniques, complications and outcomes of these interventions will be described in this review.     

In utero ischemic injury: sonographic diagnosis and medicolegal implications

The antenatal diagnosis of fetal neurologic injury has profound medical and legal implications. We report a case of antenatally diagnosed intracranial lesions including parenchymal hemorrhage in an otherwise physically normal infant. Computerized tomography in the newborn period demonstrated diffused ischemic damage with secondary cystic changes in addition to intracranial hemorrhage.     

Prognosis in Fetal Cystic Hygroma

Axillary and lateral cervical fetal cystic hygromas in a fetus with normal karyotype are described. Fetal death at 25 weeks' gestation occurred. A literature review revealed that for cystic hygroma 42% of infants are 45XO, 38% have a normal karyotype, and 18% have trisomies. Prognosis is grim if the karyotype is abnormal or if hydrops or bilateral pleural effusions are present. Survival rate progressively improves with normal karyotype (27%), unilateral pleural effusion (40%), atypical location (56%), and resolution of cystic hygroma (71%). No single feature signifies 100% survival. The overall survival rate for fetal cystic hygroma is 10%. Prognosis remains guarded regardless of all other factors until the fetus reaches 26 weeks' gestation, after which time a 67% chance of ultimate survival can be expected. Only 42% of documented survivors were completely normal at follow-up.     

Congenital lung lesions

Confusion, controversy, and uncertainty are all terms applicable to the diagnosis and management of congenital lung lesions both prenatally and postnatally. This review examines the current status of fetal diagnosis and treatment of these lesions; reviews the various classifications, including congenital cystic adenomatoid malformation/congenital pulmonary airway malformation, sequestrations, variants and hybrid lesions; discusses the risk of malignant transformation or misdiagnosis with pleuropulmonary blastoma; presents the arguments in favor and against resection of asymptomatic lesions, the timing of such resection, and the long-term pulmonary function after resection; and reviews the experience with thoracoscopic resection of congenital lung lesions.     

Comparison of magnetic resonance imaging and ultrasonography in the prenatal diagnosis of congenital thoracic abnormalities

OBJECTIVES: To evaluate prenatal MRI in the diagnosis of fetal thoracic abnormalities and to determine whether MRI provides useful information in addition to that of ultrasonography (US). METHODS: Ultrafast MR scanning was performed in 7 pregnant women in whom US was suspicious of fetal congenital anomalies of the thorax [3 cases of congenital diaphragmatic hernia (CDH), 3 cases of chylothorax and 1 case of congenital cystic adenomatoid malformation (CCAM) type III]. The presence, position, size and characteristics of the congenital lesions were determined and compared with postnatal diagnoses. RESULTS: The MRI diagnoses were 3 cases of CDH, 2 of chylothorax and one each of esophageal atresia and CCAM type III. The results of MRI were in agreement with those of US in 6 cases and in disagreement in 1 case of esophageal atresia. Final diagnoses were confirmed at surgery or autopsy in all fetuses. Combined use of MR and US imaging enabled a correct diagnosis in 5 cases and led to an error in the diagnosis of 1 fetus with bronchial stenosis, which had been diagnosed as CCAM type III by US and MRI. MRI led to a correct diagnosis in 1 fetus with esophageal atresia, in whom US had been equivocal in the prenatal diagnosis. CONCLUSION: MRI helped further characterize the fetal thoracic lesions and confirmed or changed the prenatal diagnosis based on US. MRI seems to be powerful in the prenatal diagnosis of thoracic lesions that are atypical or complicated by multiple abnormalities.     

Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare.OBJECTIVE: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. METHODS: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. RESULTS: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. CONCLUSION: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.     

One-lung high-frequency ventilation in the management of an acquired neonatal pulmonary cyst

Pulmonary cystic lesions presenting in the neonatal period can be congenital in origin, such as cystic adenomatoid malformation and congenital lobar emphysema, or they can be acquired. With recent advances in the support of premature infants with respiratory distress syndrome (RDS), acquired cystic lesions such as pulmonary interstitial emphysema (PIE), lobar emphysema, and parenchymal cysts have become more common. Several treatments have been proposed for these acquired lesions. We report what we believe to be the first case in which unilateral high-frequency ventilation (HFV) combined with low-rate intermittent mandatory ventilation (IMV) has been used to successfully manage an acquired lung cyst in a newborn.     

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.     

Prenatal Detection of a Sublingual Lymphatic Malformation in a Fetus: A Rare Case

BackgroundLymphatic malformations are benign cystic lesions that, while rare, tend to affect the pediatric age group. There are no reported cases diagnosed prenatally.CaseA 28-year-old G1 woman at 34 weeks gestation was scanned for placental localization at a community ultrasound clinic. A fetal cystic, sublingual structure was identified. The patient was referred to our tertiary care centre, where a small (1.3 cm) avascular, cystic structure under the tongue of the fetus was confirmed. Antenatal course and delivery were unremarkable. The lesion resolved spontaneously with time.ConclusionThis report highlights a unique case in which a sublingual lymphatic malformation was detected prenatally during a third-trimester ultrasound.     

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.     

Fetal pleural effusions

The clinical course of primary fetal hydrothorax is unpredictable. Whereas smaller unilateral effusions might remain stable or even regress, this is rarely the case with larger collections. Bilateral effusions, hydrops, preterm delivery and the lack of antenatal therapy are all associated with poor outcome. Once structural and chromosomal anomalies have been excluded, optimal management depends on gestational age, rate of progression, the development of hydrops and associated maternal symptoms. For very large effusions with mediastinal shift, hydrops and/or hydramnios, or when there is rapid enlargement of the effusion, fetal intervention is warranted. Survival can be maximized by pleuroamniotic shunting, which can reverse hydrops and hydramnios and prevent pulmonary hypoplasia. Pleuroamniotic shunting can also be used for the treatment of other large cystic lung lesions, such as a macrocystic congenital cystic adenomatoid malformation or bronchopulmonary sequestration, especially when associated with hydrops.     

Outcome of fetal cystic hygroma and experience of intrauterine treatment

OBJECTIVE: To review our cases of fetal cystic hygroma and to examine the prognostic factors with the goal of establishing criteria for the intrauterine treatment for cystic hygroma. PATIENTS AND METHODS: Thirty-one cases of fetal cystic hygroma were managed by us from January 1988 to December 1997, and 21 cases were available for analysis. Three prognostic factors, namely chromosomal abnormality, structural anomaly and hydrops fetalis, were evaluated. We treated 2 cases of cystic hygroma associated with hydrops fetalis in utero using OK-432 injection under ultrasound guidance. RESULTS: The fetuses without any of the prognostic factors listed above showed a good prognosis throughout the fetal and neonatal periods. However, in this group, 2 infants with large tumors died of hemorrhage from the tumor at 6 months and 3 years of age, respectively. Cases with hydrops fetalis without chromosomal abnormalities or structural anomalies (5 cases) resulted in either intrauterine fetal death (IUFD, 2 cases) or early perinatal neonatal death (early PND, 3 cases). The cause of early PND was circulatory failure. Most of the hydrops cases with either a chromosomal abnormality or structural anomaly resulted in IUFD before 22 weeks of gestation. The size of the cyst decreased in 1 of 2 cases treated in utero. CONCLUSIONS: The fetal cases of cystic hygroma showing hydrops fetalis without chromosomal abnormalities or structural anomalies are considered to be possible candidates for intrauterine therapy. Those with very large cystic hygroma without any of the three prognostic factors are also thought to be candidates for fetal treatment. Based on our clinical experience, sclerotherapy using OK-432 is considered to be a treatment option in selected cases with fetal cystic hygroma.     

Intra-abdominal masses: prenatal differential diagnosis and management

Intra-abdominal masses and cystic lesions are not commonly identified during the routine 20-week anomaly scan but are not infrequently seen as incidental findings during a third trimester scan assessing fetal growth and well being. This review looks at the potential differential diagnosis of masses and cysts seen prenatally and aims to define a method of assessment that will help limit the differential diagnosis before delivery.     

Antepartum assessment of fetal cystic lymphangioma by magnetic resonance imaging

Few reports of fetal cystic lymphangioma have described assessment in utero by magnetic resonance imaging (MRI). We evaluated a fetus with cystic lymphangioma by this method. Complementing the characteristic features of cystic lymphangioma in ultrasonographic images, prenatal MRI provided a detailed view of anatomic relationships of cysts to surrounding tissues in this case. This anatomic evaluation facilitated planning of perinatal management and choice of manner of delivery. We found MRI very helpful in antepartum assessment of fetal cystic lymphangioma.