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Transcript of Anorectal Atresia
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39 5
A n o re c ta l A tre s ia :
Prenat a l
S o n o g ra p h ic D ia g n o s is
R o b e rt D . H a m s 1 T o d e te rm in e th e p re n a ta l s onogr aph ic fin d in g s o f
a no re cta l a tre sia
(A R A), w e re tro -
D a v id A . N y b erg spec t ive ly re v ie w ed 1 2 p ro v e n c a s es . S o n o g ra p h y s h o w e d a b n o rm ally d ila ted b o w el
Lau rence A . M ack 9 m e n t5 in fiv e c as e s (4 2 ) , fo u r o f w h ic h w ere ide ntified p rosp ec tive ly ; a t a uto ps y,
E dw ard W ein ber” er o th e r c a s e s s h o w ed m ild c o lo n d ila ta tio n n o t e v id e n t o n s o n o g r a m s . B o w e l dila tation
w as n ot a s s o c ia te d
with
th e lo c a tio n o f a tre s ia o r th e
presence
o f a fis tu la , b u t w as
poss ib ly re la ted to m enstru a l age . E leven fe tu ses (92 ) h ad s ign ifican t o th e r a nom alies
prim arily re la te d
to th e V A C T E R L s y n d ro m e (v e rte b ra l d e fe c ts , a n a l a tre s ia , t racheo-
es op ha g ea l fie tu la w ith e so p h a g e a l a tre s ia , ra d ia l a n d ren al dy sp las ia , an d l im b m a lf or -
ma t io n s ) and /o r th e c a u d a l re g re s s io n s y n d ro m e; o f th e s e , s o n o g ra p h y id e n tifie d o n e
o r m o re c o n c u rren t a n o m alie s in s e v e n c a s e s . In
tw o
c a s e s , b o w e l d ila ta tio n w a s th e
p rim ary s o n og ra p hic fin din g. D ea th in n in e c a s e s re s u lte d f rom te rm in atio n o f p re gn an cy
(fo ur ca ses ) o r per ina ta l d em is e (f iv e c a s e s ); th ree pa t ien ts ar e s t il l a li ve .
W e
conc lude
th a t s o m e ca s e s o f A R A
ca n b e su sp ec te d o n p re na ta l s on og ra m s
b y
d e mo n s t ra t i o n
o f d ila te d c o lo n , a n d th a t th e s e n s it iv ity o f th is fin d in g m ay b e re la te d to
mens trua l
a g e a t th e tim e o f th e e x a m in a tio n . D is tin g u is h in g A R A fro m o th e r c a u s e s o f
f e ta l - bowe l d i la ta t ion is im p o rta n t b e c a u se o f th e freq u e n c y o f
concu r ren t
a n o ma l ie s
ass oc ia te d w ith A R A .
A no recta l a tre s ia (A R A ) is a m a jo r co nge n ita l m a lfo rm a tion th a t occu rs in a bou t
one o f 50 00 live b irths [1 ]. R e cog n it ion o f A R A is im po rtan t no t on ly because
s u rg ica l co rre c tio n is re q u ire d a fte r d e live ry b u t a lso b e c a u se it is fre q u e n tly
a s so c ia te d w ith o th e r a n o m a lies [2 -7 ]. A n a ss o c ia tio n b e tw ee n
v erte bra l, ana l,
ca rd iovascu la r , tracheo esoph age a l, ren a l, and lim b m alfo rm a tion s ha s be e n re c-
ogn ized an d te rm ed th e V A C T E R L synd rom e [2 -7 ]. A no rec ta l a nom a lies a re a lso
fo un d fre q u e n tly in a ss o c ia tio n w ith sa cra l a g e n e s is a n d lo w e r lim b h yp o p la s ia a s
p a rt o f th e c a ud a l re g re ss io n s yn d ro m e [8 ].
P re n a ta l d e te c tio n of A R A h a s b e e n re po rte d in frequ en tly . T w o pre v io us ly
p ub lish ed ca se rep o rts sugg est tha t d ila ted fe ta l b ow e l se en o n pren a ta l son ogra -
p h y m a y re s u lt fro m A R A a s w e ll as fro m o th e r c au s e s o f b o w el o b s tru c tio n [9 ,
1 0 ]. R e ce n tly , w e a lso e n co u n te re d se v e ra l ca s e s o f A R A th a t p re s e n te d w ith
a b n o rm a lly d ila te d fe ta l b o w e l se g m e n ts . H o w e ve r, the fre q u en c y a n d s ig n ifica n c e
o f th is o b s e rva tio n a n d its a s so c ia tio n w ith o th e r s o n o g ra p h ic fin d in g s re m a in
u n k n o w n . F u rth e rm o re , q u a n tita tive c o m pa ris o n w ith no rm a l b o w e l m e a su re m e n ts
h a s n o t b e e n
s tud ied p rev iou s ly . T o de te rm ine the usu a l so nogra ph ic fin d in gs in
fe tuses w ith A R A , w e un derto ok the p re sen t s tu dy o f 1 2 p roved ca ses .
R ece ive d F eb ru ary 4 19 87 ; a cce p te d a fte r re -
v is io n A pril 7 , 1 98 7.
I
A l l a u th o rs : Depar tmen t o f R ad io lo gy . S B -0 5, M a te n a ls a n d M e th o d s
O ur re v ie w o f c lin ic a l a nd p a th o log ic re co rds co ve ring a 5 -y ea r pe rio d
( i9 8i -1 98 6) y ie ld ed
b erg . 1
2 fe tu s e s w ith A R A fo r w h o m a p re n a ta l s o n o g ra m w a s a v a ila b le fo r
e va lu atIo n. A no re cta l
R
14 9 :3 95 -4 00 , A u gu st 1 98 7 m alform atio n s th at w ere co n s id e re d a p a rt o f A R A in c lu d e d im pe rfo ra te a n us , a n a l a g e n es is ,
0 3 61 -80 3 X /87 /14 9 2-0 3 95 a n ore c ta l ag e ne s is , a n d re c ta l a tre s ia . In d ica tion s fo r so n og ra ph y in c lu d ed s ize less th an
0 A m e ric an R o e n tg en R ay S oc ie ty d a te s (fou r ca se s ), d e te rm in a tion o f m e ns tru a l ag e (th ree c ase s ), p rem atu re la bo r (th ree
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C a s e
N o.
A ge
(w e e k s )
Sonogr aph ic F in d ing s P a th o lo g ic an d S u rg ica l
Find ings
C o lo n
D ia me te r
( m m )
O th e r
F e ta l
O u tc o me
Loca t ion
o f A RA
Fis tu la
O th er A n om a lie s
2 2 2 N o tse e n
3 2 4 N o tse e n
V T O P N A Y e s
O m ph alo ce le , m en in go my elo -
ce le
A n h y d ra m n io s h yd ro ce p h a lu s V T O P
A nh yd ram n ios , ren a l a ge ne s is V T O P
M ulticys tic dy sp la s tic k id ne y
Al ive
5 3 0 i 3 (re tro s p e c- H y d ro ce p h a lu s , a n h yd ra m - D e a th
tiv e ) n ios , ren a l ag en es is , sa cra l
agenes is
6 2 9 20 P o ly h yd ram n io s , fe ta l a s c ite s D ea th
7 35 22
8 2 6 2 0
9 2 6 N o ts e e n
io 1 9 N o ts e e n
ii 2 7 N o ts e e n
i2 2 i N o ts e e n
A nh yd ram n ios D ea th
Al ive
Al ive
N o t e . - V TO P
= v ol un ta ry t er m in a ti on
o f p re gn a nc y ; N A
= in fo rm atio n no t a va ilab le fro m p ath olo gy
repo r t .
39 6
H A R R IS E T A L .
c ase s ), m a te rn a l d ia be tes (on e ca se ), a n d su spe c te d a b sen t fe ta l
h ea rt to nes b y D op p le r (o n e ca se ).
A ll
so n o g ra m s w ere O bta in ed with c o mme rc ia l l y
a va lla bl e r ea l- ti me
so no gra ph ic eq u ip m e n t. T he pro sp ect ive so nog ra ph ic f in d ing s w ere
n o te d , an d e a c h sonogram w as a ls o rev iew ed re tro sp e ct ive ly b y tw o
sonographers
fo r th e p re s e n ce , s ize , a n d
loca t ion
o f fe ta l b ow e l
s e g m en ts . W he n d isc re te c o lo n se g m en ts w e re id e n tifie d , th e d ia m -
e te r w a s m ea s u re d fro m th e in n e r b o w e l w all. T h e s e re s u lts w ere
c o m p a r e d
w ith c o lo n d ia m e te r m e a s u re m e n ts m a d e fro m 1 20 ra n -
A JR :1 49 , A ug us t 1 98 7
dom ly se le c te d n orm al fe tuses see n be tw e en 20 to 4 0 m enstru a l
w e ek s w h o h a d n o rm al
c lin ic a l e va lua tio ns a fte r b irth .
F e ta l o u tco m e fo r th e i 2 fe tu se s w ith A R A in c lu d e d te rm in a tio n o f
pre g na nc y (fou r c a se s), p e n n a ta l d e m ise (five c a se s), o r s u rv iva l
beyond th e n e o n a ta l p e rio d (th re e ca se s ). A ll p a tie n ts w e re p rov e d
to ha ve A R A b y su rg e ry (th re e ca se s ) o r au top sy (n in e ca se s ). T he
lo c a tio n o f a tre s ia w as ca tego r ized a s e ith e r h ig h (a b ov e th e le va to r
s lin g ) or lo w (b e lo w th e lev a to r s lin g ). T h e p re se n ce of a n a ss o c ia te d
d is ta l co lo n ic fis tu la w a s a lso n o te d , w h e n kn o w n . T h e p re se n c e o f
T A B L E 1 : S on og ra ph ic , C lin ic al, an d P ath o lo g ic F in d in gs In A no re c ta l A tre s ia (A RA )
i i8 N o tse en
4 2 3 N o ts e e n
27 9
33
27
A n h y d ra mn io s D ie d i w e ek
a ft er b ir th
D e a th
H yd roc ep ha lu s, m en in go my e-
V T O P
l oc al e, s co li os is
O lig oh yd ra mn io s (p re ma tu re
ru ptu re o f m em bra ne s)
O mph a loc e le , sm all-
b o w e l
a tr es ia , s ac ra l
agenes is , me n in g o -
mye loce lc
H igh N o S ire n om e lia , re na l a g en -
e s is , r ad ia l d y s pl as ia ,
hyd rocepha lus
H igh Y es S ire nom e lia , ab se n t
g en it ali a, r en al
a g e n e -
s is , m ild ly d ila te d d is -
t al c olo n
H igh N o S m a ll-bo w e l as tre s ia ,
a nn ula r p an cr ea s,
re na l d ys pla sia , sa c-
r a l a g en e si s
H ig h N o S iren om e lia , re n a l ag e n-
e sis , r ad ia l d ys pla sia ,
a tna l se pta l d efe ct,
h yd roc ep ha lu s , d i-
la te d d is ta l c olo n
H ig h Y es E so p ha ge a l a tres ia w ith
t racheoesophagea l
fis tu la , ve rte bra l m al-
fo rm atio ns , re n a l dys -
p la s ia , d ila te d d is ta l
co lon
H ig h N o E s op ha gea l a tre s ia w ith
t r ac heoes ophagea l
fis tu la ; a bse nt g en i-
ta lia ; r ig ht c ys tic d ys-
p la stic k id ne y, le ft
r en al a ge ne sis ; te tra l-
og y o f F allo t; s ho rt
ex tre m it ies , ro ck e r-
bo t tom f ee t; d il at ed
co lo n fille d w ith
m e-
con ium
H ig h Y e s tke th ra l a tre s ia , m e n in -
goc e le , a m b ig u o u s
g en it al ia , m i ld ly d i-
la te d c olo n
L o w Y e s A m b ig u o u s g e n ita lia , d i-
l a t ed co lon / i leum,
c lu b fo o t
H ig h N o H yd roce p ha lu s , m en in -
g o m ye lo ce le , sco -
Iiosis
H igh N o T e tra log y o f F a llo t,
c ryp to rch id ism
L o w N A N o n e
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22 2 4 26 28 3 3 2 34 36 38 4 42
M E N S T R U A L A G E (w e e k s )
F ig 3 .-C o lo n d ia m e te rs from
fou r fe tu se s w ith a n o re c ta l
a tr es ia ( do ts )
co m pa red w ith va lu es ob ta in ed fro m 120 n orm a l fe tu se s (m ea n ± 2 S D ).
O n e c ase (cas e 4 ) s howed p ro gre ss ive (a rro w) co lo n d Ila ta tiO n fro m 2 7 to
33 w e e k s .
F ig . 1 .-Case
7.
C o ro na l s on og ra m
at 3 5 w e ek s
sho ws s eg me nt
o f
d ila ted co lo n (C ) in fe ta l pe lv is
m e as uring 2 2 m m In d iam ete r. N o te V co n fig u ra -
ho n o f d il at e d b ow el se gm en t
F ig . 2 .- C as e 6.
A S a gf tt al s on og ra m
at 29
w e ek s s ho w s p o ly hy d ra m n io s . C = fe ta l cran iu m .
B Ad jacen t sonogram s h o w s d ila ted s eg m e n t o f b ow el (B ) in fe ta l pe lv is a n d a sc ite s (a r ro w s) . A t
bir th, in fant w as
found
to h av e
m u lt ip le a no m ali es
inc lud ing bo th
a no re ct al a tr es ia
a nd e so ph ag ea l
a tr es ia w i th t ra c he o es o ph a ge a l fis tu la . T he in fan t d ied 1 w e ek afte r de l ive ry .
A JR :i 49 A ug us t 1 98 7
A N O R E C T A L A T R E S IA
39 7
c onc u r r en t anoma l ies
w as d e te rm in e d b y c lin ic a l, s u rg ic a l, a n d a u -
t op sy e xa m in at io n.
R e s u f ts
Sonograph ic
f in d in g s a re c o m p a re d w ith p a th o lo g ic a n d
c l in ica l resu lts in T a b le 1
.
O f the 1 2 fe tu se s s tud ied , five
sh ow ed a t le as t o ne segm en t o f ab norm ally d ila te d fe ta l bow e l
(F igs . 1 a n d 2 ). In fo u r o f th e se ca se s , th e ab n o rm a lity w a s
p ro s p e ctiv e ly re c o g n iz ed a t th e tim e o f th e in it ia l so n o g ra m ;
in one o th e r case , it w as
s e e n
on re tro spe ctive re v ie w . In
e a c h c a s e , th e
loca tio n and ap pea rance o f th e bow el segm en t
su gge ste d tha t it re p resen ted co lon . C o lon d iam e te rs fo r
these
f iv e ca s e s w e re g re a te r th a n 2 S D a b o v e n o rm a l c o lo n
d iam e te rs , as d e te rm in ed from 1 20 n orm a l cases (F ig . 3 ). In
th e o the r seve n ca se s, d isc re te bow e l segm en ts w e re n o t
id en tifie d e ith er p ro sp ec tiv ely o r re tro sp ec tiv ely .
O f the five cases w ith so nog raph ica lly de tectab le bow e l
d ila ta tio n , fou r show ed a n an echo ic seg m en t o f bo w e l lo ca ted
in th e pe lv is o r low e r a bdo m en , and th ree d em o nstra ted a V
o r U c o n fig u ra tio n (F ig s . 1 a n d 2 ). In o n e c a s e , a lo n g s e g m e n t
o f d ila ted co lon , f illed w ith e cho gen ic m e co n iu m , w as im age d
around th e p e r ip h e ry o f th e a b d o m e n (F ig . 4 ). T h is c a s e a ls o
d e m on s tra te d a c tiv e c o lo n p e ris ta ls is , n o te d p ro s p e c tive ly o n
r ea l-tim e s on og ra ph y.
T h e p re s e n c e o f c o lo n d ila ta tio n s e e n b y s o n o g ra p h a n d /
or a t a u top sy a ppe ared to b e re la ted to m ens trua l age . C o lon
d ila ta tio n w as no t seen so nog ra ph ica lly in an y o f the fou r
ca se s e x a m in e d a t o r b e fo re 2 2 w e e k s , w h e re a s a ll th re e
cases se en
a fte r 2 7 w e e k s d e m o n s tra te d d ila te d c o lo n . B e -
tw ee n 23 and 27 w ee ks , one o f five cases had son ogra ph ica lly
de tec tab le co lon d ila ta tio n , and tw o o th e r ca s e s h a d d ila te d
co lon s o n pa tho lo g ic exa m in a tions . T he ea rlie s t tha t co lo n
d ila ta tio n w a s d e te c te d b y s o n o g ra p h y w a s 26 w e e k s , a l-
thou gh m ild co lon d ila ta t ion w as fo und pa tho log ica lly as ea rly
a s 2 4 w e e ks . O n e c a se w ith m in im a l co lo n d ila ta tion (9 m m )
a t 2 7 w e e ks e n la rg e d s ig n ific a n tly to 2 7 m m b y 3 3 w e e ks
(F ig . 4 ).
N o c o rre la tio n w a s o b s erve d b e tw e e n c o lo n d ila ta tio n a n d
the s ite o f a tres ia o r the p re se nce o f a fis tu la . T h e lo ca tion o f
A R A w a s re p o rte d b y s u rg ic a l o r a u to p s y fin d in g s a s h ig h
(s u pra le v a to r) in n in e c a se s , lo w (in fra le va to r) in tw o
cases,
and no t rep o rte d in on e ca se . A fis tu la w a s iden tified in five
ca se s ; tw o o f th e se sh o w e d bo w e l d ila ta tio n .
E leven ca se s (92 ) had co ncu rren t m alfo rm a tion s in a dd i-
tion to A R A (T a b le 1 ); o f these , se ven h ad th ree o r m ore
ca rd ina l fea tu re s of th e V A C T E R L sy n d ro m e (ca s es 1 -7 ) a n d
fo u r h a d tw o fea tu re s (c a se s 8 -1 1). F iv e fe tu s e s (c a se s 1 -5 )
a lso h a d ch a ra c te ris tic fe a tu re s o f th e c au d a l re g res s io n
syn d ro m e , in c lu d in g s a cra l a g e n e s is (tw o ca s e s) or s ire n o -
C O L O N
D I A M E T E R
( m m )
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39 8
H A R R IS E T A L .
A JR :14 9, A ug us t 1 98 7
F ig . 5 .- Ca se 3.
A S o n o g r a m at 2 4 w ee ks s h o w s anhyd ramn ios
a n d r e na l a g e ne s is , c on sis te nt w ith P o t t er ’ s d i s ea s e .
Sp = s p ine .
B Pho tog raph o f fe tu s a fte r te rm in a tio n o f p reg -
n a n c y
s ho ws s ire nO m ella
w ith fu sed low er e xtre mi-
tie s. A no re cta l a tre sia w as a lso presen t
m elia (th ree cases) (F igs . 5 a nd 6). A t au to psy , the m os t
c o m m o n c o nc u rre n t a n o m a lie s in c lu d e d s a cra l a g e n e s is (tw o
c a se s), s ire n o m e lia (th re e ca se s ) (F ig s . 5 a n d 6 ), re n a l a g e n -
e s is (th re e cases b ila te ra l, o ne case un ila te ra l) (F ig . 5 ), c ys t ic
d y sp la s tic k id n e y (th re e ca s e s), e s o p ha g e a l a tre s ia w ith tra -
ch e oe so ph a ge a l fis tu la ( tw o ca se s ) (F ig . 2 ), h yd ro ce p h a lu s
(th ree case s), and m en in gom ye loce le (th ree case s).
S o nog ra phy ide n tif ied on e ab norm a lity o r m ore in seven
fe tu se s , in c lu d in g fo u r w ith h yd ro ce p h a lu s (F ig . 6 ) a n d /o r a
m e n in g o m ye lo ce le . O f th e five re m a in in g ca se s , th re e h a d
se ve re o ligoh yd ra m nios tha t lim ited so nog raph ic eva lu a tio n .
O f the s ix ca se s w ith o lig ohyd ram nio s, five w ere asso c ia ted
w ith re n a l a n om a lie s a n d o n e h a d p re m atu re rup tu re o f m e m -
b ra n e s . T h e o n ly ca s e w ith p o lyh yd ra m nio s h a d e so p h a g e a l
a tre s ia w ith tra ch e o e so p h a g e a l fis tu la (F ig . 2 ).
D is c u s s io n
T h e c las s ifica tio n o f a n o re c ta l m a lfo rm a tio n is va r ia b le ,
re fle c tin g th e com p lex ity o f m a lfo rm a tion s in vo lv in g the c lo a ca
a n d h in d g u t [7 ]. W e h a v e in c lu d e d u n d e r A R A a sp e c tru m o f
m a lfo rm a tio n s in c lu d in g im pe rfo ra te a n u s , a n a l a g e n e s is , a n -
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A JR :i4 9 , A ug u s t 1 98 7 A N O R E C T A L A T R E S IA
39 9
o re cta l a ge ne sis ,
a n d re c ta l a tre s ia [7 ]. A n y o f th e s e le s io n s
m ay a lso ha ve an assoc ia ted fis tu la . F o r s im p lif ica tion , A R A
ca n be d iv ide d in to tw o g ro up s : h igh (su p ra le v ato r) le s io n s
tha t te rm ina te a bove the leva to r s ling an d lo w (in fra leva to r)
les io n s th a t te rm in a te b e lo w th e le v a to r s lin g . H ig h les io n s
a re th e m o s t c o m m o n ty p e o f A R A a n d a re a s s o c ia te d m o re
o fte n w ith fis tu la s an d gen itou rina ry m alfo rm ation s [7 ].
O u r p re s e n t s tu d y c o n firm s p re v io u s o b s e rv a tio n s [9 , 1 0 ],
su gge stin g th a t d ila ted fe ta l bo w e l m ay re su lt fro m A R A (F igs .
1 a n d 2 ) in a d d itio n to m o re co m m o n ly re co g n iz ed ca u se s o f
fe ta l b o w e l o b s tru c tio n (F ig s . 1 a n d 2 ). A U - o r V -s h a p e d
se gm e n t o f d ila ted bow e l in th e low er a bdo m e n or pe lv is is
pa rt icu la rly su gge stive o f A R A and w as se en in th ree o f o u r
c a s e s . B e a n e t a l. [9 ] s h o w e d n e a rly id e n tic a l s o n o g ra p h ic
fea tu re s in a fe tus w ith A R A scann ed a t 34 w ee ks . S im ila rly ,
B a rs s e t a l. [1 0 ] s u s p ec te d d ila te d b o w e l a t 2 8 .5 w e e k s in
an o the r fe tus w ith im pe rfo ra te a nus . S onog raph ic and pa th -
o lo g ic fin d in g s s u g g es t th a t s u c h b o w e l s e g m e n ts re p re s e n t
d is ta l c olo n.
F o u r o f fiv e fe tu se s w ith v is ib ly d ila te d b o w e l w ere
recog -
n ize d p ro s p e c tiv e ly in o u r p re s e n t s e rie s , in d ic a tin g th a t e x -
perienced
s on og ra ph ers c an id en tify p a th o log ic bo w e l s eg -
m ents in the fe tu s . H ow ever, d is t ingu ish in g a bno rm ally d ila te d
c o lo n fro m n o rm a l c o lo n o c c a s io n a lly m a y b e d iff ic u lt s in c e
n o rm a l fe ta l co lon p ro g re s s iv e ly e n la rg es d u rin g p re g n a n cy
a nd can ap proa ch 2 cm in d iam e te r tow a rd te rm [1 1 -1 3 ]. In
q ues tio nab le o r bo rd e rline cases o f co lo n d ila ta tion , com par-
ison w ith a ge -a d jus ted norm al m easure m en ts m ay be he lp fu l
(F ig . 3 ).
W hile th e num be r o f p a tien ts s tud ied w as re la tive ly sm a ll,
o u r re s u lts s u g ge s t th a t c o lo n d ila ta tio n is p ro b a b ly re la te d to
m e n s tru a l a g e . T he e a rlies t c a se d e te c te d in th e p re s e n t
se rie s w a s a t 2 6 m e n stru a l w e e k s a n d th e e a rlie s t p re v io us ly
repo rted case o f A R A w as a t 28 .5 w eeks [1 0 ]. O ne case in
o u r s e rie s sh o w e d m in im a lly d ila te d b o w e l a t 27 w e e ks th a t
prog re ssed s ign ifican tly by 33 w ee ks (F ig . 4 ). A lso , th e ca se
d e scr ib e d b y B e a n e t a l. [9 ] s h o w e d n o rm a l fin d in g s a t 2 4
w ee k s b u t d ila te d b ow e l a t 3 4 w e e k s . P a th o lo g ica lly , m ild
co lo n d ila ta tio n w a s fo u n d a s e a rly a s 2 4 w e e ks b u t w a s n o t
s e e n in an y o f fou r ca ses exam ined be fo re 2 2 w e eks. T he se
re s u lts a re c o n s is te n t w ith kn o w n fo rm a tio n o f m ec o n iu m ,
s in ce m ec on iu m
n o rm a lly d o e s n o t a c cu m u la te in th e co lo n
b e fo re 2 0 w e e ks [1 1 , 1 2 ].
T h e re a s on th a t so m e fe tu se s w ith A R A d e m o n stra te co lo n
d ila ta tio n is u n c le a r a n d is a q u e s tio n th a t h a s n o t b e e n
a d d re s se d p re v io u s ly . A s m e c on iu m n o rm a lly d o e s n o t p a ss
th rou g h th e a n u s in u n co m p lica te d p re g n a n c ie s [1 1 ], in o rd e r
fo r co lo n d ila ta tio n to o ccu r fro m a d is ta l o b s truc tio n , o ne
m u st p os tu la te a n in cre as e d a m o u n t o f in g e s ted a m n io tic
flu id , a d e cre a se d a b so rp tio n o f flu id , o r a n in cre a se d p ro d u c-
tio n o f m e co n iu m . A R A co u ld a lso b e a ss o c ia te d w ith se g -
m e n ta l a g a n g lio n o s is , p e rm ittin g co lo n d is te n s io n to o ccu r,
a lth o u g h th is h a s n o t b e e n s tu d ie d s p e c ifica lly . In ca se s o f
A R A in w h ich co lo n d ila ta tio n is a b s e nt, a p o s s ib le e xp la n a tio n
is tha t a d is ta l co lo re cta l fis tu la d eco m pre sses the o bs truc ted
b o w e l. H o w e ve r, w h ile th e n u m b e r o f c a se s in o u r s tu d y w a s
sm a ll, no d ire c t c o rre la tio n w a s o b s e rv e d b etw e e n th e p re s-
e n c e o r a b se n ce o f a fis tu la a n d co lo n d ila ta tio n .
In add itio n to co lon d ila ta tion , o th e r b ow e l ab norm alit ies
o c ca s io n a lly m a y b e d e m o n stra te d in A R A . C o lon p e ris ta ls is
8/11/2019 Anorectal Atresia
http://slidepdf.com/reader/full/anorectal-atresia 6/6
40 0
H A R R IS E T A L .
A JR :1 49 , A ug us t 1 98 7
w a s o b s e rv e d o n rea l-t im e s o n o g ra p h y in o n e A R A c a s e in
o u r s tu d y b u t w a s n o t o b s e rv e d in a n y o f 1 20 n o rm a l fe tu s e s .
In tra lum ina l m eco n iu m ca lc ifica tio n has b e e n n o te d in so m e
c a s e s o f A R A [1 4 ], in c lu d in g o n e c a se d e tec te d in u te ro [1 5 ],
a lth o u g h it w a s no t o b se rve d in a n y c a se in o u r p re s en t
se ries . T h e e tio log y o f ca lc ifica tio n in these ca ses is u nce rta in ,
bu t som e au th o rs p ropo se th a t a lka line u rin e from an asso -
c ia te d b la d d e r fis tu la m ay b e c o n trib u to ry [1 4 ].
C on curre n t an om a lie s o ften a re asso c ia ted w ith A R A . A d-
d itio n a l a n o m a lie s w e re p re se n t in 9 2 o f c a se s in o u r p re s en t
s tu d y a n d h a ve
b e e n re po rte d in u p to 7 2 o f cases in
neona ta l
se ries [1 6 , 17 ]. T he assoc ia tion be tw e en A R A and
o th e r type s o f a nom a lies led to de sc rip tion o f the V A T E R
(ve r teb ra l de fe cts , ana l a tres ia , trach eoe sop hag ea l fis tu la w ith
e s o p h a g e a l a tre s ia , ra d ia l a n d ren a l d y s p la s ia ) a c ro n y m [2 ],
w h ic h w as s u b s e q u e n tly m od ified to th e V A C T E R L (v e rte b ra l,
an a l, ca rd iova scu la r, tra che oesoph age a l, re na l, and lim b) syn -
d ro m e [3 ]. O th e r a u th o rs h a v e e m p h a s ize d a b ro a d o v e rla p
b e tw ee n th e V A C T E R L s yn d ro m e a n d th e ca u d a l re g re s s io n
s y n d ro m e [8 , 1 8], w h ic h m a y in clu d e A R A , s a cra l a g e n e sis ,
lo w e r lim b h y p o p la s ia , re n a l a g e n e s is o r d y s p la s ia , a n d its
m o st seve re fo rm , s iren om e lia [1 9 , 20 ].
O n th e bas is o f ou r expe rience , w e sugg est tha t w hen fe ta l
b o we l d ila ta tio n is ide n tifie d a n d A R A is su s p e c te d , a sp e c ific
s e a rc h s h o u ld b e c o n d u c te d fo r c o n c u rre n t a n o m a lie s . A s -
so c ia te d a b n o rm a litie s , e x c lu d in g o lig o h y d ra m n io s , w e re p ro -
spective ly
id e n tifie d b y so n o g ra p h y in se ve n (6 4 ) o f th e 1 1
fe tuses w ith co ncu rren t a nom alies . In o ne case , po lyhyd ram -
n ios w a s the on ly c lue to the p re sen ce o f eso pha gea l a tres ia
w ith tracheo esopha gea l fis tu la (F ig . 2 ). C e n tra l ne rvou s sys-
te m a n o m a lie s in c lu d in g h y d ro c e ph a lu s a n d /o r m e n in g o m ye -
lo ce le w ere co rrectly iden tifie d in fou r o f five ca ses and ha ve
also
b e e n a s s o c ia te d w ith A R A [1 6 , 1 7]. In tw o
cases , ho w -
e ve r, d ila ted fe ta l bow e l w as the p rim ary so nog raph ic ev i-
d e n c e fo r A R A a n d th e V A C T E R L sy n d ro m e (ca s e s 7 a n d 8 ).
In co n tra s t to A R A , o th e r c a us e s o f fe ta l b o w e l o b s truc tio n
a re u s u a lly a n is o la te d a b n o rm a lity n o t as s o c ia te d w ith c o n -
cu rre n t a nom a lies . O the r cau ses o f fe ta l co lo n d ila ta tion in -
d u d e th e m ec o n iu m -p lu g s y n d ro m e [2 1
]
a nd H ir sc hs pr un g’s
d isease [2 2 ], w h ile sm a ll-bo w e l d ila ta tion m a y b e from sm a ll-
b o w e l a tre s ia , v o lv u lu s , L a d d ’s b a n d s , m ec o n iu m ile u s [2 3 ],
or H irschsp run g ’s d isea se [2 4 ]. Iden tifica t ion o f a dd ition a l
m a lfo rm a tion s m a y in fluen ce the obs te tric m ana gem en t o f
fe tu ses fou nd to ha ve bo w e l d ila ta t ion be cau se o f the h igh
m orta lity and m o rb id ity assoc ia te d w ith A R A .
In su m m a ry , th e d ia g n os is o f A R A sh o u ld b e co n s id e re d
w h e n d ila te d fe ta l b o w e l is d ete c ted b y p re n a ta l s o n o g ra p h y ,
p a rticu la r ly w h e n it in vo lve s th e d is ta l co lon . T h is fin d in g
sh o u ld a le rt th e so n o g ra p h e r to p o s s ib le co n cu rren t m a lfo r-
m a tio n s a ss o c ia te d w ith th e V A C T E R L or ca u d a l re gre ss io n
s y n d ro me .
R E F E R E N C E S
1
.
Murken JO , A lbe rt A . G ene tic cou ns e lin g in c ase s o f an a l an d rec ta l a tre s ia .
Prog Ped ia t r Su rg 1 97 6;9 : 1 15 -1 18
2 . Q u an L , S m ith O W .
Th e
V A TE R a ss oc ia tio n: v erte bra ld efe cts , a na l a tre sia ,
tra ch eo es op ha ge al fis tu la w ith e so ph ag ea l a tre sia , ra dia l d ys pla sia . Bir th
De fec t s 1972;8 2 :75-78
3 . N ora R H, N ora JJ . A sy nd ro me o f m ultip le co nge nita l a nom alie s a sso cia te d
w ith t er ato ge nic e xp os ur e. A rc h E nv ir on Hea l t h 1 97 5;8 5: 1 7-2 1
4 . T em tam y S A , M ille r JO . E xten d in g th e s cop e o f the V AT E R as so cia tio n:
d efin it io n o f th e V A TE R s yn dro me .
J P e di at r
1974 ;85 :345 -349
5 . B a rn es JC , S m ith W L. T he V A T E R as so c ia tion . R ad io logy 1978 ; 126 :
445-449
6 . L ud d W E, G ros s R F. C ong en ita l m alfo rm atio n s o f the an us an d rec tum :
rep o rt o f 1 62 c ase s. A m J S urg 1 937 ;2 3 : 16 7 -1 8 3
7 . S tep he ns F D , S m ith E D . A no r e c ta l m alfo rm atio ns in ch ild ren . Ch ic ago :
Y ea r B o ok , 1 97 1: 21 2- 25 6
8 . O uha m e l B . F rom the m erm a id to an a l im pe rfo ra tion . T he sy nd rom e o f
c au d al r eg re ss io n . A rch D is C hild 1 961 ;36 : 1 52 -1 5 5
9 . B ea n W J , C a lo ng e
M A, A p rill C N, G esh n er J . A na l a tre s ia : a p re n a ta l
u l t rasound d iagnos is . JC U 1978; 6 : 111 - 112
1 0.
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d iagnos is
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1985 ;76 :445 -449
1 1
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W in dle W F. P hy s io log y o f th e f e tus Spr ing f ie ld , IL : T ho ma s, 1 97 1:9 4-1 00
1 2 . G re lin E S.
F unc tio na lan ato my o f th e n ew bo rn .
N e w H a ve n: Y a le U n iv er si ty ,
1973 :54 - 60
1 3 . N yb erg D A , M ack L A , P atton B M,
C yr D R. F e ta l bo we l: no rm al son og rap hic
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1 4 . B e rd on W E, B ake r O H , W igg e s H J , e t a l.
C alc ifie d in tra lu min al m eco niu m
in n ew bo rn m ale s w ith im pe rfo ra te a nu s. AJ R 1975 :125 :449 -455
15 . S h a le v E , W ein e r E , Z u cke rm a n H . P re na ta l U S d iag no s is o f in tes tin a l
ca lc if ic a tio n s w ith im pe rfo ra te a nu s . A cta O b ste t G yn ec o l S can d
1 9 8 3 ;6 2 :9 5 -9 6
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an u s : a sso c ia ted an o m alie s e nc ou n te re d in a se rie s o f 1 2 0 ca se s .
Su rg
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