Characteristics of congenital cystic adenomatoid malformations associated with nonimmune hydrops and outcome

Background/Purpose

In fetuses with congenital cystic adenomatoid malformations of the lung (CCAMs), hydrops fetalis and large masses are associated with poor outcomes. This study attempts to (1) determine sonographic features (in addition to large size) that correlate with hydrops and (2) characterize the features that correlate with outcome among hydropic fetuses.

Method

Charts and sonograms of fetuses with large, unilateral CCAMs were retrospectively reviewed. Mass features evaluated included laterality, macrocystic/microcystic, cystic/solid predominance, degree of mediastinal shift, retrocardiac component, diaphragm eversion, polyhydramnios, and mass-thorax ratio (MTR). Features of hydrops included degree of ascites, scalp and integumentary edema, pleural/pericardial effusion, and placentomegaly.

Results

Thirty-six fetuses with large CCAMs were studied: 27 with and 9 without hydrops. Three sonographic features were significantly associated with hydrops: MTR of at least 0.56, cystic predominance of mass, and eversion of hemidiaphragm. Of 27 fetuses with hydrops, 10 (37%) demonstrated all 3 features compared with none in those without hydrops (P = .04). All 9 nonhydropic fetuses were expectantly managed, and 100% survived. In the hydropic group, none of the expectantly managed fetuses survived, and 10 (43%) of the 21 fetuses who underwent fetal intervention survived.

Conclusion

Three features of large CCAMs were significantly associated with hydrops: MTR, cystic predominance, and diaphragm eversion. Identification of these features will allow clinicians to accurately predict which fetuses may warrant closer follow-up and possible treatment.     

超声诊断孕早期胎儿颈部水囊状淋巴管瘤

目的探讨孕早期胎儿颈部水囊状淋巴管瘤（NCH）的超声诊断价值。方法收集2005年1月—2011年8月在我院发现的NCH胎儿36胎,超声观察其囊状扩张的部位、大小、内部情况及胎儿有无水肿,头部、胸腹内脏、四肢、脐带有无异常,并进行随访,记录产后新生儿复查情况或染色体、引产的结果。结果 36胎NCH胎儿中,1胎NCH位于腋下,35胎位于颈部。13胎接受染色体检查,其中6胎染色体核型正常;7胎异常染色体核型中,3胎核型为45,XO;1胎为46,XX/45,XO;1胎Bart＇s水肿;1胎21-三体;1胎合并上肢内翻,46,XY。全部36胎中,1胎出生后证实合并尿道下裂;3胎合并全身水肿,中、晚孕胎死宫内;3胎合并心脏畸形,在中、晚孕期接受引产;2胎单房性淋巴水囊瘤自行消失,出生后观察至产后6个月,未见明显结构异常;其余27胎均引产,并经尸体检查证实。结论孕早期超声可在检测胎儿颈部透明层厚度的同时早期诊断NCH,判断有无分隔、合并畸形,对临床医师评估胎儿预后、指导临床处置、适时终止妊娠、实行优生优育有重要临床意义。     

Large fetal congenital cystic adenomatoid malformations: growth trends and patient survival

Purpose

The prognosis for fetuses with large congenital cystic adenomatoid malformations (CCAMs) remains uncertain. This study examined the natural history of large fetal CCAMs managed expectantly at a major referral center.

Methods

A 5-year retrospective review was conducted on fetuses diagnosed with a thoracic lesion (n = 59). Large CCAMs were identified on prenatal imaging and followed longitudinally. Perinatal outcomes were assessed.

Results

Twelve (20.3%) fetuses had large CCAMs in the absence of other congenital anomalies. Peak CCAM size occurred at 25.3 ± 3.6 weeks' gestation. Serial magnetic resonance volumetry demonstrated a trend toward decreasing CCAM mass volume relative to thoracic cavity volume over time. Overall, 6 patients, including 3 with signs of early hydrops, showed a marked regression of their lesions relative to estimated fetal weight. Five fetuses required an emergent intervention postnatally, including extracorporeal membrane oxygenation support (n = 1), cyst aspiration (n = 1), and lung resection (n = 5). Overall survival was 75%, with severe hydrops before 30 weeks seen in all 3 deaths.

Conclusion

Large fetal CCAMs tend to peak in size at 25 weeks' gestation and are characterized by in utero diminution relative to overall fetal growth. The prognosis for most fetuses with large CCAMs remains quite favorable under careful perinatal management.     

Survival after CCAM associated with ascites: a report of a case and review of the literature

A congenital cystic adenomatoid malformation (CCAM) is a congenital lung lesion that, when associated with hydrops, is thought to have a dismal prognosis without fetal intervention. The authors report a case of a fetus with a CCAM associated with ascites as the only manifestation of hydrops, which was diagnosed at 19 weeks gestation. The CCAM regressed without intervention between 23 and 29 weeks of gestation with resolution of the ascites. The baby was born asymptomatic at term, and the infant underwent elective resection of the CCAM at 1 year of age. A review of the literature from 1980 to 2000 yielded 9 other cases of spontaneous resolution of hydrops associated with CCAM, suggesting that although rare, this outcome is a possibility in fetuses diagnosed with the condition. Because most fetuses diagnosed with hydrops undergo termination of pregnancy, the true incidence of hydrops resolution is potentially higher than predicted. This has important implications for prenatal counseling particularly in centers in which fetal intervention is not available.     

Fetal diaphragmatic hernia: ultrasound diagnosis and clinical outcome in 38 cases

A previously published survey has evaluated the natural history and clinical outcome of fetal diaphragmatic hernia (CDH) in 94 cases. This study showed that the prenatal diagnosis is accurate, the mortality is high (80%), and polyhydramnios is a prenatal predictor of poor clinical outcome. As a follow-up study, 38 consecutive cases of CDH diagnosed in utero were evaluated and treated by the same surgical team. This permitted detailed assessment of prognostic factors and evaluation of the impact of extracorporeal membrane oxygenation (ECMO) on outcome. We found the following. (1) Survival is poor despite optimal postnatal therapy including ECMO. (2) Polyhydramnios is both a common prenatal marker for CDH (present in 69% of fetuses) and a predictor for poor clinical outcome (only 18% survival), but tends to occur after the second trimester. (3) Amniocentesis is indicated to rule out chromosomal abnormalities that were present in 16% of fetuses. (4) All 14 fetuses diagnosed prior to 25 weeks' gestation died. Improved postnatal therapy or surgical intervention before birth will be necessary to salvage the CDH fetus with an early gestational diagnosis or associated polyhydramnios.     

Defining hydrops and indications for open fetal surgery for fetuses with lung masses and vascular tumors

PurposeThe aim of this study was to identify the most accurate prenatal predictors of outcomes and need for fetal surgery for fetuses with high-risk lung masses and vascular tumors.MethodsThe records of all fetuses with high-risk lung mass (congenital cystic adenomatoid malformation-volume ratio > 1.6 or findings of hydrops) and vascular tumor evaluated between July 2001 and March 2011 were reviewed retrospectively. Hydrops was defined as accumulation of fluid in 2 or more compartments.ResultsOf fetuses with high-risk lung mass, hydrops was identified in 46% (11/24). Fetuses with hydrops and an abnormal echocardiogram (n = 8) demonstrated poor survival without fetal surgery (13%) compared with 100% survival in fetuses with hydrops and a normal echocardiogram (n = 3; P = .02). Of 21 fetuses with vascular tumor (11 sacrococcygeal and 8 cervical teratomas; 2 hemangioendotheliomas), hydrops was identified in 29% and an abnormal echocardiogram in 57%. All fetuses with hydrops had an abnormal echocardiogram and either died (n = 5) or required fetal surgery (n = 1). However, all fetuses with abnormal echocardiograms alone (n = 7) survived without fetal intervention.ConclusionsFor fetuses with lung mass, an abnormal echocardiogram in the setting of hydrops is the best predictor of mortality and need for fetal surgery. For fetuses with vascular tumor, hydrops in the setting of high-output physiology best predicts demise and need for fetal surgery.     

Anesthetic management for neonates with congenital cystic adenomatoid malformation

We experienced two cases of congenital cystic adenomatoid malformation (CCAM) diagnosed by prenatal ultrasonography. The first case with type I CCAM underwent the resection of the right upper lobe 8 days after birth. Postoperative course was uneventful. The second case with type III CCAM developed non-immune hydrops, severe mediastinal shift, and polyhydroamnios at 29 weeks' gestation. At 30 weeks' gestation, cesarean section was performed. Immediately after birth, the resection of lung tumor for the neonate was performed. However, the neonate died on the 1st postoperative day.     

Fetal sacrococcygeal teratoma

Sacrococcygeal teratoma (SCT) is being diagnosed before birth with increasing frequency. We were recently consulted about management of a 22-week fetus with SCT and reviewed our experience (6 cases) and the literature. We found that most fetal SCT present from 22 to 34 weeks gestation with a uterus enlarged by the tumor and/or associated polyhydramnios; although the American Academy of Pediatrics Surgical Section clinical classification is an important prognostic indicator in neonatal SCT, it does not appear to predict outcome in fetal SCT; associated chromosomal abnormalities or life threatening anomalies are rare; presentation after 30-weeks gestation is a relatively good prognostic sign with fetal survival, after planned cesarean delivery, in 6 of 8 cases; and hydrops and/or placentomegaly in association with fetal SCT predicts fetal demise soon after diagnosis with 7 of 7 cases dying in utero.     

Fetoscopic treatment for discordant twins

Background/Purpose: In rare instances in monochorionic twin pregnancies, one twin can have a discordant anomaly (eg, cystic hygroma). If this twin dies in utero, neurologic injury and death can occur in the surviving cotwin. To protect the normal twin, the authors developed an approach to separate the circulations and ablate the umbilical cord of the abnormal twin. Methods: From September 1998 to February 2001, 6 cases of discordant anomalous twins were diagnosed by prenatal ultrasound scan in which the anomaly was lethal or parents desired prenatal termination for this abnormal twin. All underwent surgical intervention with gestational ages varying from 19 to 24 weeks. Results: Depending on cord insertion site and placental anatomy, blood flow was interrupted to the anomalous fetus by either radiofrequency ablation (RFA; 2 cases), cord transection (1 case), or cord transection after laser ablation of communicating vessels (3 cases). Fetal death occurred in one normal twin 4 days postoperatively. Average age at delivery for the 5 surviving fetuses was 34.5 weeks' gestation. On follow-up, all surviving infants are neurologically intact. Conclusion: An otherwise normal monochorionic twin threatened by an anomalous cotwin can be salvaged successfully with a strategy tailored to interrupt the vascular connections between the 2 twins.     

Congenital adenomatoid malformation of the lung: current management and prognosis

A retrospective 10-year review of congenital adenomatoid malformation (CAM) included 10 cases diagnosed in utero by ultrasound and 13 cases that presented postnatally. Two prenatally diagnosed cases were aborted because of associated lethal anomalies. All remaining patients underwent resection. Up to one third of all cases, whether diagnosed prenatally or postnatally, were asymptomatic. Resection is recommended to avoid respiratory distress, infection, or associated malignancy. There were 5 nonsurvivors, including 2 therapeutic abortions and 3 who died postoperatively. All had either polyhydramnios or ascites. All patients who died postoperatively had a respiratory arrest at birth and underwent immediate lobectomy. All died on the first day of life after a brief period and were found to have associated pulmonary hypoplasia. One had undergone a prenatal transthoracic cyst aspiration at 34 weeks gestation in an attempt to allow lung growth and prevent premature labor. Prenatal ultrasound findings suggestive of poor prognosis included polyhydramnios, ascites, mediastinal shift, and noncystic type III CAM. However, there is a spectrum of severity of CAM. The lesion can either regress and be asymptomatic at birth, or it can progress to cause either fetal death from hydrops or neonatal death caused by associated pulmonary hypoplasia. These findings should be considered in prenatal counseling for CAM.     

Conservative management of severe proteinuric hypertension before 28 weeks' gestation

Forty-five patients with severe proteinuric hypertension who presented before 28 weeks' gestation were managed conservatively by bed rest, antihypertensive treatment, betamethasone administration after 26 weeks' gestation, and intensive fetal and maternal monitoring. Eleven patients presented before 24 weeks and their babies all died; 34 patients presented at or after 24 weeks and 13 of their babies survived (38%). The indications for delivery were intra-uterine death (13), fetal distress (9), deterioration in the mother's condition (17), and maternal complications--pulmonary oedema in 3 cases and pleural effusion in 1. One patient went into spontaneous labour and one was induced at 34 weeks. At postpartum follow-up examination all the mothers in the group that had presented before 24 weeks were found to have underlying diseases, compared with 42% of those who had presented between 24 and 27 weeks. The low incidence of maternal complications and the relatively good survival rate of 38% indicate that there is a place for conservative management in patients with severe proteinuric hypertension presenting at 24 weeks or later. Termination of the pregnancy should, however, be seriously considered in those patients presenting before 24 weeks' gestation.     

Fetal intervention for mass lesions and hydrops improves outcome: a 15-year experience

Purpose

The natural history of certain prenatally diagnosed masses is well known. Large thoracic mass lesions can evolve one of 2 ways, either to regress and cause minimal morbidity, or to progress and enlarge, often resulting in hydropic changes in the fetus. This nonimmune hydrops carries a dismal prognosis, with nearly all fetuses expiring before or shortly after birth. However, hydrops associated with fetal mass lesions can be halted and even reversed with fetal intervention and treatment of the underlying defect. We examined our patients with fetal mass lesions to evaluate survival after intervention.

Methods

Institutional approval was obtained by the Committee on Human Research. A retrospective review was performed of 294 fetuses evaluated over 15 years with large mass lesions. All patients were evaluated for evidence of fetal hydrops using ultrasound criteria. Patients were divided according to type of intervention. Primary outcome measure was 30-day survival after birth.

Results

(1)

Patients without fetal hydrops did not undergo fetal intervention and survived to 30 days after birth (167/172, 97%).

(2)

Patients with fetal mass lesions that developed hydrops fared poorly with no intervention (1/33 survival, 3%), whereas fetuses undergoing prenatal intervention fared much better (15/30 open, 50%; 3/10 percutaneous, 30%).

(3)

Four patients with hydropic congenital cystic adenomatoid malformation (n = 3) or pulmonary sequestration (n = 1) received steroids in preparation for surgery but underwent no intervention, and the patients survived the neonatal period.

Conclusion

Fetuses with prenatal diagnoses of masses not associated with hydrops have excellent prognosis with survival higher than 95%. Nonimmune hydrops associated with prenatal diagnosis of a fetal mass is a devastating complication with less than 5% survival. Open resection of a mass causing hydrops resulted in 50% survival, with reversal of hydrops in a group with near-uniform fatality. Further investigation is warranted regarding the use of minimally invasive prenatal therapies including steroid administration for hydropic fetuses.     

Experimental study concerning safety dosage of OK-432 for intrauterine treatment

OBJECTIVE: Clinical intrauterine treatment for fetal cystic hygroma has so far been performed in a few patients; however, it is still difficult to evaluate the results. The aim of this study is to establish the safe dosage of OK-432 in the intrauterine treatment of fetal cystic hygroma. METHODS: OK-432 was injected either subcutaneously behind the neck of the fetuses or into the amniotic cavity through the uterine wall of pregnant Japanese white rabbits at 27 days of gestation. Saline was administered to the controls. The dosage and the site of injection were as follows: group 1, OK-432, 0.01 KE (0.25 KE/kg) in 0.2 mL saline per fetus, subcutis; group 2, OK-432, 0.02 KE (0.5 KE/kg) in 0.2 mL saline per fetus, subcutis; group 3, OK-432, 0.04 KE (1 KE/kg) in 0.2 mL saline per fetus, subcutis; group 4, OK-432, 0.01 KE in 0.2 mL saline per fetus, amniotic cavity; group 5, OK-432, 0.04 KE in 0.2 mL saline per fetus, amniotic cavity; group 6, saline, 0.2 mL per fetus, subcutis; group 7, saline, 0.2 mL per fetus, amniotic cavity. All fetuses were delivered at 29 days of gestation. RESULTS: The mother's rectal temperature was mostly in the normal range throughout the experiment. There was no significant difference between any of the seven groups in fetal body weight. The C reactive protein values of all fetuses were negative. The appearance of the skin of all the fetuses was normal. The histopathological findings of the skin in the OK-432 groups showed a moderate infiltration of monocytes and plasma cells. No pathological changes were observed in the heart, lung, liver or kidneys of any of the fetuses. CONCLUSION: Based on this rabbit experiment, we determined that OK-432 may be safely used at a dose of up to 1 KE/1 kg of fetal body weight as an intrauterine treatment for fetal cystic hygroma.     

Primary fetal hydrothorax: natural history and management

Primary fetal hydrothorax presents a wide spectrum of severity ranging from small, harmless effusions, to life-threatening thoracic compression. To define natural history and management, we reviewed 32 cases seen at two large perinatal centers from 1980 to 1987. Spontaneous resolution of the effusions was seen in three fetuses, all of whom survived. Three fetuses were electively terminated. The overall mortality was 53%. In the 24 untreated fetuses, sex and the presence of polyhydramnios did not influence mortality, but hydrops, gestational age less than 35 weeks at delivery, and bilateral effusions were associated with a poor prognosis. Five fetuses underwent in utero decompression. In four, thoracentesis was performed, with rapid reaccumulation of the effusion. All four died from pulmonary insufficiency. In the fifth fetus, a thoracoamniotic shunt permanently decompressed the effusion, with resolution of the hydrops, and delivery of a normal viable infant. We conclude that (1) primary fetal hydrothorax may resolve or progress to hydrops, necessitating close follow-up with ultrasound; (2) pulmonary hypoplasia as a result of undrained large pleural effusions may result in neonatal mortality; (3) the gestational age at both diagnosis and delivery, the development of hydrops, and bilaterality of effusions are important prognostic predictors; and (4) the fetus with large effusions and hydrops has a poor prognosis, and thoracic decompression with a thoracoamniotic shunt may prove life saving.     

Prenatal diagnosis and management of abdominal diseases in pediatric surgery

Purpose

The aim of this study was to investigate the prenatal courses and management of abdominal surgical diseases.

Methods

Of the 327 patients registered with our fetal treatment board since March 2002, 83 fetuses referred to the surgical department were enrolled for the current study. The prenatal diagnosis, sequential fetal images, and perinatal courses of these cases were reviewed retrospectively.

Results

Of the 83 cases, abdominal diseases were suspected in 34, lung and thoracic diseases in 25, genitourinary diseases in 12, and other anomalies in 12. Meconium peritonitis (MP), intestinal obstruction, and abdominal wall defects accounted for approximately 65% of the abdominal diseases. Five patients with prenatally diagnosed lung diseases underwent fetal surgical intervention, and 17 of the 22 liveborn patients survived. In contrast, none of the patients with prenatally diagnosed abdominal anomalies underwent fetal surgical intervention, yet, 23 of the 24 liveborn patients survived. However, preterm labor and hydrops were seen frequently in the patients with giant cystic MP, suggesting a fetal critical condition.

Conclusions

Although the clinical outcome of abdominal diseases seemed favorable with postnatal treatment, the current results suggested the occurrence of hidden mortality in utero and the potential need for fetal intervention for some abdominal conditions, such as MP.     

Outcome of antenatally diagnosed sacrococcygeal teratomas: single-center experience (1993-2004)

Aims

Sacrococcygeal teratomas (SCTs) are the commonest neonatal tumors with an incidence of approximately 1:30,000. There are few large single-center series and even fewer describing both their antenatal and postnatal course. We report the outcome of all fetuses investigated at a tertiary fetal medicine center with this diagnosis.

Method

Demographic details were obtained from a prospectively maintained database. Patient records were examined for additional data including antenatal and postnatal interventions. Data were described as median (range).

Results

Forty-one SCTs were diagnosed antenatally during the period 1993 to 2004. Twelve were excluded from subsequent analysis (single antenatal visit or attending for second opinion [n = 6] and termination of pregnancy [n = 6]). Twelve underwent fetal intervention (laser vessel ablation [n = 4], alcohol sclerosis [n = 3], cyst drainage [n = 2], amniodrainage [n = 2], vesicoamniotic shunt [n = 1]) for fetal hydrops and polyhydramnios to aid in delivery and to prevent obstructive uropathy developing in the fetus. Of these, 3 died in utero and 9 survived to be born (median gestational age, 33 weeks [27-37 weeks]). A further 3 died in the neonatal period. There are 6 long-term survivors (50%) from this group. Seventeen infants, without intervention, were born at median gestational age 38 weeks (26-40 weeks). One infant with severe cardiac anomalies died on the day of birth. All surviving infants had definitive excisional surgery at a median of 2 days (1-16 days). Current median follow-up of survivors is 39 months (8-86 months). There have been no recurrences. One child has mild constipation, and 3 are awaiting cosmetic revision of their scars.

Conclusions

The overall survival of antenatally diagnosed SCT is approximately 77%, with the development of hydrops and others requiring in utero intervention carrying a poor prognosis. Otherwise, the outcome after surgical excision is excellent.     

Congenital diaphragmatic hernia and hydrops: a lethal association?

Background/Purpose: Nonimmune hydrops in the fetus is a finding that often portends death. The association and prognosis of fetuses with congenital diaphragmatic hernia (CDH) and hydrops is not known. Methods: A retrospective review of all prenatally diagnosed cases and referrals of CDH was performed. Variables analyzed included gestational age at diagnosis and delivery, side of hernia, presence of associated anomalies and hydrops, and neonatal outcome. Results: Since 1993, 474 prenatal referrals for CDH have been made. One hundred seventy-five were evaluated; 15 fetuses had hydrops (9%). Five patients had CDH, hydrops, and associated lethal anomalies. In the remaining 10 patients, 6 of the diaphragmatic defects were right-sided and 4 were left-sided. All except one had a major portion of the liver herniated into the chest. Six fetuses had prenatal intervention. Five neonates died shortly after birth. There were 5 long-term survivors; all received prenatal intervention. Conclusions: The association of CDH and hydrops is rare but often results in fatality. Hydrops appears to be associated with liver in the hernia, right-sided lesions, and lethal anomalies. Fetal intervention can be performed successfully in patients with CDH and hydrops, and may improve long-term survival rate in this group.     

Congenital cystic adenomatoid malformation detected by prenatal sonography; report of 2 cases

We report 2 cases of congenital cystic adenomatoid malformation (CCAM) detected by prenatal sonography. The first CCAM was diagnosed by fetal sonography in a female fetus at 30 weeks' gestation. The infant was born at 37 weeks' gestation, with a body weight of 2,770 g. After birth, chest computed tomography (CT) showed a multicystic mass in the middle lobe of the lung. She remained asymptomatic until age 21 months, when she suffered pneumonia. Two months later, middle lobectomy was performed. The second CCAM was diagnosed by fetal sonography in a female fetus at 25 weeks' gestation. She was born at 39 weeks' gestation, with a body weight of 3,292 g. Four days after birth, CCAM type II was diagnosed by chest CT. The infant was asymptomatic, and left lower lobectomy was performed 11 months after birth.     

Spontaneous chylopericardium in an adult due to mediastinal cystic hygroma

Chylopericardium is a rare and benign condition. Apart from common causes like non-surgical trauma, tuberculosis, malignancy, radiation, and postoperative, mediastinal cystic hygroma presenting as chylopericardium is an extremely rare entity. Primary or idiopathic chylopericardium is diagnosed when the precise cause is not known. It is a diagnosis of exclusion. We report a 27-year-old lady with mediastinal cystic hygroma, presenting as spontaneous chylopericardium, who was managed surgically with no recurrence on 18 months follow-up. She was evaluated for complaints of discomfort in the upper abdomen region and breathing difficulty in left lateral position for 4 days, and was found to have a large pericardial effusion with impending tamponade. She underwent pericardiocentesis, and on fluid analysis, it was confirmed as chylous pericardial effusion. She was evaluated thoroughly and was taken up for right video-assisted thoracoscopy. The thoracic duct was clipped and a window was created in the pericardium, the cystic hygroma was excised, and pleurodesis was done. The postoperative period was uneventful. Histopathology of the pericardial window showed chronic inflammatory pathology and cystic lesion was confirmed as a chylous cyst.