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Congenital cystic adenomatoid malformation of the lung and fetal hydrops – a case with favourable outcome
European Journal of Obstetrics & Gynecology and Reproductive Biology 79 (1998) 99–101
Case report
Congenital cystic adenomatoid malformation of the lung and fetal hydrops – a case with favourable outcome a, a b a ,b a Michael Entezami *, Guelden Halis , Juergen Waldschmidt , Firu Opri , Sanyukta Runkel a
Department of Obstetrics and Gynecology, University Hospital Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany b Department of Pediatric Surgery, University Hospital Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany Received 30 October 1997; received in revised form 2 December 1997; accepted 28 January 1998
Abstract We present a case of congenital cystic adenomatoid malformation of the lung (CCAM) diagnosed at 23 weeks of gestation with concomitant fetal hydrops. The sonographical picture of CCAM disappeared in the third trimester of pregnancy and fetal hydrops resolved under medication with digitalis to the mother. The neonate showed mild dyspnea; the prenatal diagnosis of CCAM was confirmed by chest X-ray and computed tomography. The affected lung segments were dissected at 5 days of age. The diagnosis of CCAM type III was confirmed histologically. 1998 Elsevier Science Ireland Ltd. Keywords: CCAM; Prenatal diagnosis; Fetal hydrops; Prognostical factors; Termination of pregnancy; Intrauterine surgery
1. Introduction Advances in ultrasound technology and sonographers’ expertise have led to the prenatal diagnosis of many malformations. At times, the prognostic significance of the diagnosed malformation is difficult to judge. Abnormalities with spontaneous regression may be detected today, which might have remained undetected before the ultrasound era. Congenital cystic adenomatoid malformation of the lung can be devastating for the affected neonate or even fetus, but on the other hand there may be a favourable outcome. If CCAM is diagnosed in the second trimester of pregnancy, making a prognosis is essential in parental counselling. Our case illustrates the problems in prediction of prognosis in CCAM.
*Corresponding author. Tel.: 149 30 84452454; fax: 149 30 84454113; e-mail: [email protected]
2. Case report Polyhydramnios and fetal hydrops with skin edema and changes in fetal lung echogenicity were detected in a 30-year-old primigravida at 23 weeks of gestation during a routine ultrasound examination performed in an outward clinic. The diagnosis of CCAM Type III was made, and the parents were counselled with the option of terminating the pregnancy, which they declined. At 28 weeks of gestation the patient was referred to our hospital. We confirmed fetal hydrops (Fig. 1) and enhanced echogenicity of the right lung with enlargement (Fig. 2). Furthermore the heart was displaced to the left thoracic wall. The lower and middle lobe of the right lung showed enhanced echogenicity. Cordocentesis for prenatal diagnosis was performed and fetal ascites was punctured. The karyotype was 46 XX. Serological tests for TORCH were negative. The fetal haemoglobin concentration was 11.3 g / dl, the total serum protein concentration 36 g / l. Fetal ascites (35 ml) showed a protein concentration of 24 g / l and only lymphocytic cells. Because of contractions due to the
0301-2115 / 98 / $19.00 1998 Elsevier Science Ireland Ltd. All rights reserved. PII S0301-2115( 98 )00035-9
100
M. Entezami et al. / European Journal of Obstetrics & Gynecology and Reproductive Biology 79 (1998) 99 – 101
Fig. 1. Sonographic appearance of foetal ascites and polyhydramnios in CCAM at 28 weeks of gestation.
polyhydramnios, a therapeutic amniocentesis was performed and 1.2 l of amniotic fluid were removed. At this time (2813 weeks), digitalis treatment was given to the mother with the assumption, that it might help in treatment of the hydrops, which could be caused by associated myocardial insufficiency. She received 0.7 mg digoxin per day leading to a maternal serum level of about 2 ng / ml. She was also hospitalized and received tocolysis with fenoterol. At 3011 weeks of gestation, hydrops markedly decreased. Only slight ascites remained, skin edema and pericardial effusion resolved completely. At 3111 weeks, the polyhydramnios also decreased. At 3211 weeks, the fetal ascites resolved completely, and at 3312 weeks the amount of amniotic fluid was normal. At 33 weeks, the sonographical appearance of the fetus was completely normal, the echogenicity of the affected lung showed a nearnormal pattern such that if this patient had presented for ultrasound at this time, then without previous knowledge of medical history the findings would have been reported as absolutely normal. Displacement of the heart
Fig. 3. Affected child at 3 months of age showing normal development.
was no longer visible. Tocolysis was discontinued at 34 weeks, but digitalis was given until delivery. At 4012 weeks the mother delivered a female neonate weighing 3750 g spontaneously (Apgar 7 / 8 / 8, umbilical artery pH 7.29). The neonate had mild dyspnea 30 min post partum, which did not require mechanical ventilation. A chest X-ray and computed tomography confirmed the prenatal diagnosis of CCAM of the right lung, which was limited to segments 3–6 and parts of 2 and 8. At the age of 5 days, the affected segments of the right lung were dissected by laser. 4 ]12 segments could be left in situ. Pathological examination confirmed the diagnosis of CCAM and showed cysts of up to 4 mm in diameter (Stocker type III [1]). The child developed normally and was completely healthy at 9 months of age (Fig. 3).
3. Discussion
Fig. 2. Enhanced echogenicity and enlargement of the affected lung in CCAM at 28 weeks of gestation.
CCAM is a rare hereditary malformation caused by maldevelopment of the terminal bronchioli, which become hyperplastic without developing alveolar tissue. The diagnostic criteria for CCAM are enlargement of the affected lung with either hyperechogenicity or cysts. There may also be displacement of the heart as well as
M. Entezami et al. / European Journal of Obstetrics & Gynecology and Reproductive Biology 79 (1998) 99 – 101
fetal hydrops and polyhydramnios. In cases of CCAM fetal hydrops caused by intrathoracic compression is considered to be an indicator of a very poor prognosis [2]. Of the 36 reported cases diagnosed prior to 24 weeks of gestation, 23 pregnancies were terminated [3]. It may be doubted, whether this is justified taken into account, that the general prognosis of CCAM is not bad, as documented by Schwartz [4] and Nuchtern [5]. Rice et al. showed that elevated intrathoracic pressure by an expander in fetal sheep causes hydrops, which resolved after deflation of the expander. The authors conclude that the sonographically diagnosed enlargement of the lung can regress, especially through fetal growth leading to a shift in the relationship between the size of the affected lung and the fetus itself [2]. In our case, the affected lung grew less rapidly than the fetus. In addition, hyperechogenicity of the affected lung disappeared at 33 weeks. Fetal hydrops and polyhydramnios resolved completely. If hydrops develops due to an elevation of central venous pressure caused by the affected lung it is questionable whether digitalis has any influence on its resolution. In other cases, e.g. hydrops due to heart failure, digitalis can be effective. Brown et al. [6] treated a fetus with CCAM and hydrops with serial thoracic punctures and concluded that the improvement of the skin edema might be related to their punctures. Assuming, that our patient had presented for ultrasound at 34 weeks for the first time, it would have been very difficult to detect any abnormality. Postnatally, the neonate developed only mild dyspnea. It remains unknown how often fetal hydrops in CCAM regresses spontaneously. McCullagh [7] described two out of 13 cases, where CCAM resolved in utero (15%). In our case the maximum enlargement of the lung in relation to fetal size occurred in the second trimester of pregnancy. The cystic changes in the affected lung detected in pathological examination were probably too small to be detected ultrasonographically, as with fetal growth the affected lung area decreased; also the changes were certainly too small to cause any respiratory distress in the newborn. The outcome of this pregnancy would have been incorrectly predicted at 23 weeks. We conclude that it is difficult to make a prognosis of CCAM in the second trimester of pregnancy even with the additional unfavourable sign of hydrops. Hence caution is recommended in counselling the parents with respect to terminating the
101
pregnancy. Adzick [8] recommended intrauterine surgery in cases of CCAM with hydrops due to the poor prognosis of this combination. In case of bilateral CCAM this seems justified with the overall prognosis being dependent on the amount of the remaining unaffected lung tissue. In view of our case, the indication for fetal surgery must be carefully considered. Differentiated selection criteria are necessary as stated by Morin [9] for making a prognosis of CCAM with concomitant hydrops. It remains to be seen whether the size of the affected lung or intrathoracic blood flow parameters are such criteria.
4. Condensation Congenital cystic adenomatoid malformation of the lung may be sonographically undetectable in late pregnancy, and fetal outcome can still be favourable even in cases with fetal hydrops.
References [1] Stocker JT, Kagan-Hallet K. Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrum. Hum Pathol 1977;8:155–71. [2] Rice HE, Estes JM, Hedrick MH, Bealer JF, Harrison MR, Adzick NS. Congenital cystic adenomatoid malformation: a sheep model of fetal hydrops. J Pediatr Surg 1994;29:692–6. [3] Roelofsen J, Oosterdorp R, Volovics A, Hoogland H. Prenatal diagnosis and fetal outcome of cystic adenomatoid malformation of the lung: case report and historical survey. Ultrasound Obstet Gynecol 1994;4:78–82. [4] Schwartz MZ, Ramachandran P. Congenital malformations of the lung and mediastinum – a quarter century of experience from a single institution. J Pediatr Surg 1997;32:44–7. [5] Nuchtern JG, Harberg FJ. Congenital lung cysts. Semin Pediatr Surg 1994;3:233–43. [6] Brown MF, Lewis D, Brouillette RM, Hilman B, Brown EG. Successful prenatal management of hydrops, caused by CCAM, using serial aspirations. J Pediatr Surg 1995;30:1098–9. [7] McCullagh M, MacConnachie I, Garvie D, Dykes E. Accuracy of prenatal diagnosis of congenital cystic adenomatoid malformation. Arch Dis Child 1994;71:F111–3. [8] Adzick NS, Harrison MR, Flake AW, Howell LJ, Golbus MS. Fetal surgery for CCAM of the lung. J Pediatr Surg 1993;28:806–12. [9] Morin L, Crombleholme TM, D’Alton ME. Prenatal diagnosis and management of thoracic lesions. Semin Perinatol 1994;18:228–53.
Case report
Congenital cystic adenomatoid malformation of the lung and fetal hydrops – a case with favourable outcome a, a b a ,b a Michael Entezami *, Guelden Halis , Juergen Waldschmidt , Firu Opri , Sanyukta Runkel a
Department of Obstetrics and Gynecology, University Hospital Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany b Department of Pediatric Surgery, University Hospital Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany Received 30 October 1997; received in revised form 2 December 1997; accepted 28 January 1998
Abstract We present a case of congenital cystic adenomatoid malformation of the lung (CCAM) diagnosed at 23 weeks of gestation with concomitant fetal hydrops. The sonographical picture of CCAM disappeared in the third trimester of pregnancy and fetal hydrops resolved under medication with digitalis to the mother. The neonate showed mild dyspnea; the prenatal diagnosis of CCAM was confirmed by chest X-ray and computed tomography. The affected lung segments were dissected at 5 days of age. The diagnosis of CCAM type III was confirmed histologically. 1998 Elsevier Science Ireland Ltd. Keywords: CCAM; Prenatal diagnosis; Fetal hydrops; Prognostical factors; Termination of pregnancy; Intrauterine surgery
1. Introduction Advances in ultrasound technology and sonographers’ expertise have led to the prenatal diagnosis of many malformations. At times, the prognostic significance of the diagnosed malformation is difficult to judge. Abnormalities with spontaneous regression may be detected today, which might have remained undetected before the ultrasound era. Congenital cystic adenomatoid malformation of the lung can be devastating for the affected neonate or even fetus, but on the other hand there may be a favourable outcome. If CCAM is diagnosed in the second trimester of pregnancy, making a prognosis is essential in parental counselling. Our case illustrates the problems in prediction of prognosis in CCAM.
*Corresponding author. Tel.: 149 30 84452454; fax: 149 30 84454113; e-mail: [email protected]
2. Case report Polyhydramnios and fetal hydrops with skin edema and changes in fetal lung echogenicity were detected in a 30-year-old primigravida at 23 weeks of gestation during a routine ultrasound examination performed in an outward clinic. The diagnosis of CCAM Type III was made, and the parents were counselled with the option of terminating the pregnancy, which they declined. At 28 weeks of gestation the patient was referred to our hospital. We confirmed fetal hydrops (Fig. 1) and enhanced echogenicity of the right lung with enlargement (Fig. 2). Furthermore the heart was displaced to the left thoracic wall. The lower and middle lobe of the right lung showed enhanced echogenicity. Cordocentesis for prenatal diagnosis was performed and fetal ascites was punctured. The karyotype was 46 XX. Serological tests for TORCH were negative. The fetal haemoglobin concentration was 11.3 g / dl, the total serum protein concentration 36 g / l. Fetal ascites (35 ml) showed a protein concentration of 24 g / l and only lymphocytic cells. Because of contractions due to the
0301-2115 / 98 / $19.00 1998 Elsevier Science Ireland Ltd. All rights reserved. PII S0301-2115( 98 )00035-9
100
M. Entezami et al. / European Journal of Obstetrics & Gynecology and Reproductive Biology 79 (1998) 99 – 101
Fig. 1. Sonographic appearance of foetal ascites and polyhydramnios in CCAM at 28 weeks of gestation.
polyhydramnios, a therapeutic amniocentesis was performed and 1.2 l of amniotic fluid were removed. At this time (2813 weeks), digitalis treatment was given to the mother with the assumption, that it might help in treatment of the hydrops, which could be caused by associated myocardial insufficiency. She received 0.7 mg digoxin per day leading to a maternal serum level of about 2 ng / ml. She was also hospitalized and received tocolysis with fenoterol. At 3011 weeks of gestation, hydrops markedly decreased. Only slight ascites remained, skin edema and pericardial effusion resolved completely. At 3111 weeks, the polyhydramnios also decreased. At 3211 weeks, the fetal ascites resolved completely, and at 3312 weeks the amount of amniotic fluid was normal. At 33 weeks, the sonographical appearance of the fetus was completely normal, the echogenicity of the affected lung showed a nearnormal pattern such that if this patient had presented for ultrasound at this time, then without previous knowledge of medical history the findings would have been reported as absolutely normal. Displacement of the heart
Fig. 3. Affected child at 3 months of age showing normal development.
was no longer visible. Tocolysis was discontinued at 34 weeks, but digitalis was given until delivery. At 4012 weeks the mother delivered a female neonate weighing 3750 g spontaneously (Apgar 7 / 8 / 8, umbilical artery pH 7.29). The neonate had mild dyspnea 30 min post partum, which did not require mechanical ventilation. A chest X-ray and computed tomography confirmed the prenatal diagnosis of CCAM of the right lung, which was limited to segments 3–6 and parts of 2 and 8. At the age of 5 days, the affected segments of the right lung were dissected by laser. 4 ]12 segments could be left in situ. Pathological examination confirmed the diagnosis of CCAM and showed cysts of up to 4 mm in diameter (Stocker type III [1]). The child developed normally and was completely healthy at 9 months of age (Fig. 3).
3. Discussion
Fig. 2. Enhanced echogenicity and enlargement of the affected lung in CCAM at 28 weeks of gestation.
CCAM is a rare hereditary malformation caused by maldevelopment of the terminal bronchioli, which become hyperplastic without developing alveolar tissue. The diagnostic criteria for CCAM are enlargement of the affected lung with either hyperechogenicity or cysts. There may also be displacement of the heart as well as
M. Entezami et al. / European Journal of Obstetrics & Gynecology and Reproductive Biology 79 (1998) 99 – 101
fetal hydrops and polyhydramnios. In cases of CCAM fetal hydrops caused by intrathoracic compression is considered to be an indicator of a very poor prognosis [2]. Of the 36 reported cases diagnosed prior to 24 weeks of gestation, 23 pregnancies were terminated [3]. It may be doubted, whether this is justified taken into account, that the general prognosis of CCAM is not bad, as documented by Schwartz [4] and Nuchtern [5]. Rice et al. showed that elevated intrathoracic pressure by an expander in fetal sheep causes hydrops, which resolved after deflation of the expander. The authors conclude that the sonographically diagnosed enlargement of the lung can regress, especially through fetal growth leading to a shift in the relationship between the size of the affected lung and the fetus itself [2]. In our case, the affected lung grew less rapidly than the fetus. In addition, hyperechogenicity of the affected lung disappeared at 33 weeks. Fetal hydrops and polyhydramnios resolved completely. If hydrops develops due to an elevation of central venous pressure caused by the affected lung it is questionable whether digitalis has any influence on its resolution. In other cases, e.g. hydrops due to heart failure, digitalis can be effective. Brown et al. [6] treated a fetus with CCAM and hydrops with serial thoracic punctures and concluded that the improvement of the skin edema might be related to their punctures. Assuming, that our patient had presented for ultrasound at 34 weeks for the first time, it would have been very difficult to detect any abnormality. Postnatally, the neonate developed only mild dyspnea. It remains unknown how often fetal hydrops in CCAM regresses spontaneously. McCullagh [7] described two out of 13 cases, where CCAM resolved in utero (15%). In our case the maximum enlargement of the lung in relation to fetal size occurred in the second trimester of pregnancy. The cystic changes in the affected lung detected in pathological examination were probably too small to be detected ultrasonographically, as with fetal growth the affected lung area decreased; also the changes were certainly too small to cause any respiratory distress in the newborn. The outcome of this pregnancy would have been incorrectly predicted at 23 weeks. We conclude that it is difficult to make a prognosis of CCAM in the second trimester of pregnancy even with the additional unfavourable sign of hydrops. Hence caution is recommended in counselling the parents with respect to terminating the
101
pregnancy. Adzick [8] recommended intrauterine surgery in cases of CCAM with hydrops due to the poor prognosis of this combination. In case of bilateral CCAM this seems justified with the overall prognosis being dependent on the amount of the remaining unaffected lung tissue. In view of our case, the indication for fetal surgery must be carefully considered. Differentiated selection criteria are necessary as stated by Morin [9] for making a prognosis of CCAM with concomitant hydrops. It remains to be seen whether the size of the affected lung or intrathoracic blood flow parameters are such criteria.
4. Condensation Congenital cystic adenomatoid malformation of the lung may be sonographically undetectable in late pregnancy, and fetal outcome can still be favourable even in cases with fetal hydrops.
References [1] Stocker JT, Kagan-Hallet K. Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrum. Hum Pathol 1977;8:155–71. [2] Rice HE, Estes JM, Hedrick MH, Bealer JF, Harrison MR, Adzick NS. Congenital cystic adenomatoid malformation: a sheep model of fetal hydrops. J Pediatr Surg 1994;29:692–6. [3] Roelofsen J, Oosterdorp R, Volovics A, Hoogland H. Prenatal diagnosis and fetal outcome of cystic adenomatoid malformation of the lung: case report and historical survey. Ultrasound Obstet Gynecol 1994;4:78–82. [4] Schwartz MZ, Ramachandran P. Congenital malformations of the lung and mediastinum – a quarter century of experience from a single institution. J Pediatr Surg 1997;32:44–7. [5] Nuchtern JG, Harberg FJ. Congenital lung cysts. Semin Pediatr Surg 1994;3:233–43. [6] Brown MF, Lewis D, Brouillette RM, Hilman B, Brown EG. Successful prenatal management of hydrops, caused by CCAM, using serial aspirations. J Pediatr Surg 1995;30:1098–9. [7] McCullagh M, MacConnachie I, Garvie D, Dykes E. Accuracy of prenatal diagnosis of congenital cystic adenomatoid malformation. Arch Dis Child 1994;71:F111–3. [8] Adzick NS, Harrison MR, Flake AW, Howell LJ, Golbus MS. Fetal surgery for CCAM of the lung. J Pediatr Surg 1993;28:806–12. [9] Morin L, Crombleholme TM, D’Alton ME. Prenatal diagnosis and management of thoracic lesions. Semin Perinatol 1994;18:228–53.