Archives of

Arch Gynecol Obstet (1992) 251:211-214

Gynecology and Obstetrics

© Springer-Verlag1992

Antenatal diagnosis of prune belly syndrome T. Shimizu 1, Y. Ihara t, W. Yomura l, N. Ando i, and R. Nishimura 2 ~Department of Obstetrics and Gynecology, the Tazukekofukai Foundation Medical Research Institute, Kitano Hospital, Osaka, and 2Hyogo Institute for Research in Adult Diseases, Akashi, Japan Received December 11, 1991/Accepted April 4, 1992

Summary. A case of p r u n e belly s y n d r o m e with lethal p u l m o n a r y h y p o p l a s i a was d i a g n o s e d in utero at 14 weeks. Key words: U l t r a s o u n d - P r u n e belly s y n d r o m e - P u l m o n a r y hypoplasia

Introduction T h e p r u n e belly s y n d r o m e is a rare c o n g e n i t a l disorder characterized by deficient a b d o m i n a l muscles, u r i n a r y tract m a l f o r m a t i o n , and c r y p t o r c h i s m ( M e i z n e r et al. 1985). Males are more often affected a n d the etiology r e m a i n s u n c l e a r . In recent years, the d e v e l o p m e n t of u l t r a s o n o g r a p h y has e n a b l e d early diagnosis of c o n g e n i t a l m a l f o r m a t i o n s a n d in u t e r o surgical i n t e r v e n t i o n has b e e n suggested to correct such a n a t o m i c m a l f o r m a t i o n s ( H a r r i s o n et al. 1984, N i m r o d et al. 1988). W e p r e s e n t here a case of p r u n e belly s y n d r o m e which was d e t e c t e d u l t r a s o n o g r a p h i c a l l y at 14 weeks.

Case report A 22-year old Japanese woman, gravida 2, para 1, underwent an ultrasound examination at 11 weeks, whioja revealed a normal live fetus and normal size of crown-rump length (Fig. 1). At 14 weeks, a sonographic examination revealed a 5.6 x 4.4 x 4.1 cm echolucent cyst in the fetal abdomen with normal amniotic fluid volume (Fig. 1). Fetal pulmonary hypoplasia was diagnosed because the ratio of fetal thoracic area to abdominal area was 0.13 (normal range; 0.7 to 1.0) (Shimizu et al. 1988). Ultrasound evaluation one week later demonstrated the increase of the fetal abdominal cystic area, oligohydramnios and a male fetus. Thus, a diagnosis of prune belly syndrome was strongly suspected. Laboratory test results including a 75 gm glucose tolerance test, TORCH antibody screening, anti-D antibody titer, liver function and kidney function tests; all results were normal. After counseling and discussion, the patient elected to continue with the pregnancy and a vesicoamniotic shunt was considered. Correspondence to: T. Shimizu, M.D., Division of Perinatology, Department of Obstetrics and Gynecology, Ottawa General Hospital, 501, Smyth, Ottawa, Ontario, K1H 8L6, Canada

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Fig. 1. Ultrasonographic longitudinal section of the fetus at 11, 14 and 16 weeks. At 11 weeks, the fetus looked normal. At 14 weeks, bladder distension (arrow), pulmonary hypoplasia, and normal amniotic fluid volume were noted. At 16 weeks, further bladder distension (arrow), pulmonary hypoplasia and oligohydramnios were seen

A fourth ultrasound evaluation at 16~ weeks demonstrated intrauterine fetal death, increased bladder distension and oligohydramnios (Fig. 1). The ratio of fetal thoracic area to abdominal area was now 0.01. Systemic circulatory insufficiency due to the compression by the fetal distended bladder was the presumed cause of the intrauterine fetal death. T h e patient was admitted to our d e p a r t m e n t and amniocentesis was performed. The amniotic fluid obtained at that time did not finally show any cell growth to confirm the fetal karyotype. Maternal serum and the amniotic fluid alpha-fetoprotein concentrations were normal. At 165/7 weeks, a 138 gm macerated male baby was delivered by extra-amniotic injection of prostaglandin F2. Before delivery, fetal abdominal paracentesis was done to facilitate delivery vaginally and 374 ml of urine was removed. A u t o p s y confirmed the absence of abdominal muscles, distended bladder, bilateral renal dysplasia, bilateral pulmonary hypoplasia and urethral stenosis.

Discussion Prune belly syndrome has an incidence of 1 in 35,000 to 1 in 50,000 live births (Meizner et al. 1985). The perinatal mortality in extremely severe cases is 100%

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a n d so it is i m p o r t a n t for o b s t e t r i c i a n s to d e t e c t this disease d u r i n g early p r e g n a n c y ( M e i z n e r et al. 1985). T o the best of o u r k n o w l e d g e , a total of 24 cases with p r e n a t a l d i a g n o s i s of p r u n e belly s y n d r o m e have b e e n r e p o r t e d in the l i t e r a t u r e since O k l u s k i et al. d e s c r i b e d the first case in 1978 ( S m y t h e 1981, C h r i s t o p h e r et al. 1982, G a d z i a l a et al. 1982, Shih et al. 1982, N a k a y a m a et al. 1984, H o l z g r e v e 1985, M c K e o w n a n d D o n n a i 1986). Of the 22 cases, 10 cases h a d p u l m o n a r y h y p o p l a s i a . O f the cases p r e s e n t i n g p r i o r to 24 w e e k s , 7 2 . 7 % had p u l m o n a r y h y p o p l a s i a . W e e x c l u d e d the cases in which t h e r e was no s t a t e m e n t a b o u t the state of the lungs a n d a m n i o t i c fluid v o l u m e . O f the 20 cases, 4 s h o w e d p o l y h y d r a m n i o s , 3 n o r m a l a m n i o t i c fluid v o l u m e a n d 13 o l i g o h y d r a m n i o s . Of 12 cases with o l i g o h y d r a m nios 6 h a d p u l m o n a r y h y p o p l a s i a . In our case, p u l m o n a r y h y p o p l a s i a p r e s u m a b l y exsisted b e f o r e o l i g o h y d r a m n i o s o c c u r r e d b e c a u s e of the u l t r a s o u n d m e a s u r e m e n t s . This suggests t h a t p u l m o n a r y h y p o p l a s i a with p r u n e belly s y n d r o m e which is d e t e c t e d in early p r e g n a n c y m a y not be due to o l i g o h y d r a m n i o s but to c o m p r e s s i o n of thoracic c o n t e n t s by a d i s t e n d e d b l a d d e r . O n the o t h e r h a n d , in a n i m a l e x p e r i m e n t s using fetal r a b b i t s , it was f o u n d that the c o m p r o m i s e in fetal lung g r o w t h was due to o l i g o h y d r a m n i o s r a t h e r than an e n l a r g e d b l a d d e r and that p r e n a t a l d e c o m p r e s s i o n of the b l a d d e r was not necessary ( S a u e r et al. 1987). This d i s c r e p a n c y m a y be d u e to species difference o r to the g e s t a t i o n a l age at which an a b d o m i n a l mass d e v e l o p e d . In o u r case, s u d d e n i n t r a u t e r i n e fetal d e a t h o c c u r r e d at 16 w e e k s , p r o b a b l y b e c a u s e of the effect of the m a s s on the systemic circulation.

Acktzowledgernem. We are grateful to Prof. C. Nimrod, University of Ottawa Medical School for the review of this manuscript.

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Shimizu T, Ihara Y, Yomura W, Kawaguchi K, Nishimura Y, Sagara S. Fujiwara T, A n d o N (1988) Early detection of fetal thoracic and/or abdominal anomalies by ultrasonography. J Ultrasound Med 7 [Suppl.]:223 Smythe I I A R (1981) Ultrasonic detection of fetal ascites and bladder dilation with resulting prune belly. J Pediatr 98:978-980

Antenatal diagnosis of prune belly syndrome.

Archives of Arch Gynecol Obstet (1992) 251:211-214 Gynecology and Obstetrics © Springer-Verlag1992 Antenatal diagnosis of prune belly syndrome T...
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