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Prenatal Diagnosis
3
Signifi cant advances had been achieved in the
fi eld of prenatal diagnosis in general, as a consequence of amazing developments in the imaging
technology. The use of ultrasound to visualize the
fetus in utero already meant a great step in the
diagnosis of gross malformations in utero [ 1 – 8 ].
Subsequently, the MRI amplifi ed the possibilities
of making much more accurate diagnosis of multiple congenital defects [ 9 – 11 ].
At the present time, we cannot claim that we
can make accurate prenatal diagnoses of anorectal malformations. More specifi cally, we cannot
determine the precise type of defect that the fetus
has. Yet, with the current technology, we can
make gross diagnoses that allow us to make
important decisions and formulate meaningful
recommendations [ 12 – 19 ].
The benefi ts of the prenatal diagnosis in anorectal malformations, as well as in all defects,
include the possibility of giving the parents a
fairly accurate idea of the functional prognosis
of the future baby, which will infl uence his/her
quality of life. This, beyond ethical and moral
issues, will help the parents to make important
decisions related to the possibility of terminating the pregnancy. In addition, depending on the
specifi c type of defect, as well as its complexity,
we can advise the parents as to the best possible
place where the baby should be delivered, in
order to receive optimal, comprehensive, and
high-quality care. In some of the most serious
anorectal and urogenital malformations, the
therapeutic decisions taken during the fi rst few
hours or days of life are crucial for the future of
the baby. Some mistakes that occur in the early
management of these babies may have important repercussions for the future quality of life
of the baby. That is the reason why in cases of
complex defects that affect the colorectal area
as well as the urogenital tract, we must advise to
deliver the baby in a specialized center, where a
multidisciplinary team of experts, with the necessary experience in that fi eld, takes care of
him/her.
3.1 Male Fetuses
A frequent in utero fi nding in babies with anorectal malformations is the presence of a dilated
bowel (Fig. 3.1 ). This is a nonspecifi c fi nding that
can be present in other conditions such as
Hirschsprung’s disease.
The presence of intraluminal calcifi cations
makes the dilated bowel sign more signifi cant,
since we know that the mixing of urine with
meconium frequently produces calcifi cations
(Fig. 3.2 ). We must keep in mind that over 80 %
of the patients with anorectal malformations have
a rectal urinary fi stula, and meconium may go
into the urinary tract as well as urine into the
rectum.
There are several signs that can be clearly seen
by ultrasound and particularly with an MRI study
that will make the diagnosis of anorectal malformation more likely. These signs include:
A. Peña, A. Bischoff, Surgical Treatment of Colorectal Problems in Children,
DOI 10.1007/978-3-319-14989-9_3, © Springer International Publishing Switzerland 2015
27
28
3 Prenatal Diagnosis
Fig. 3.1 In utero MRI showing a dilated bowel in a fetus
with anorectal malformation. Arrow shows the dilated
bowel
Fig. 3.3 In utero image of an abnormal sacrum. Arrow
shows a very short sacrum
3.1.1 Abnormal Sacrum (Fig. 3.3 )
Fig. 3.2 Intraluminal calcifi cations. In utero image. This
is a consequence of the mixing of urine with meconium.
Arrow shows calcifi cations
Thirty percent of the patients with anorectal malformations have an abnormal sacrum (see images
in Chap. 6 ). These abnormalities may include a
simply short sacrum, absent vertebra, as well as
hemivertebra. Some patients may have a hemisacrum which is associated with a presacral mass.
3.1.2 Tethered Cord
This spinal cord defect is present in about 25 %
of patients with anorectal malformations (see
Chap. 23 ). A prenatal diagnosis is feasible as
demonstrated in this fi gure (Fig. 3.4 ). This defect,
as well as the abnormal sacrum, has a defi nite
infl uence in the future prognosis for the urinary
function and bowel function.
3.1.3 Absent Kidney (Fig. 3.5 )
It is the most common urologic malformation
associated with anorectal defects (see Chap. 23 ).
It is more commonly present in serious anorectal
defects. The prenatal diagnosis is very reliable.
3.1 Male Fetuses
29
Fig. 3.4 Tethered cord diagnosed in utero. Arrow shows
the low lying location of the conus
Fig. 3.5 Absent kidney in a fetus with anorectal
malformation
Fig. 3.6 Fetal hydronephrosis. Arrow shows the
hydronephrosis
3.1.4 Vertebral Anomalies
A signifi cant number of patients with anorectal
malformations have an abnormal vertebra,
mainly hemivertebra. This defect can be diagnosed in utero.
3.1.5 Hydronephrosis (Fig. 3.6 )
This is the second most common anatomic abnormality of the urinary tract seen in patients with
anorectal malformations (see Chap. 23 ). Bilateral
hydronephrosis denotes that both kidneys had
been suffering in utero; therefore, we can anticipate a signifi cant degree of kidney damage. This
is extremely important because the patients will
require special care to protect those kidneys
already signifi cantly affected.
30
3 Prenatal Diagnosis
3.2 Female Fetuses
3.2.1 Dilated Bowel
and Intraluminal
Calcifi cations
The presence of a dilated bowel is also seen in
female patients. Intraluminal calcifi cations, on
the other hand, are seen less often, since the
majority of female cases do not have a communication between the rectum and urinary tract.
3.2.2 Pelvic Cystic Mass
The presence of a cystic pelvic mass unilateral or
bilateral, located behind the bladder, is highly suggestive of a hydrocolpos in a female fetus suffering from a cloaca (Fig. 3.7 ). The importance of the
diagnosis of a hydrocolpos cannot be overemphasized. A tense hydrocolpos compresses the bladder and more specifi cally the trigone. This may
result in an extrinsic ureterovesical obstruction
that may provoke megaureter and hydronephrosis.
At birth, these babies need a permanent drainage
of the hydrocolpos to avoid kidney damage.
In a large number of patients with cloacas seen
at our center, we requested the mother to allow us
to see the ultrasound studies done when the baby
was in the uterus. Many of the hydrocolpos that
these babies were born with were already present
in utero, yet the radiologists who saw those studies made a wrong diagnosis such as “double bladder,” “ureterocele,” and “bladder diverticulum.”
This indicates that in general, the index of suspicion for the diagnosis of hydrocolpos is very low
between radiologists; they detected the abnormal
image but interpreted it in the wrong way.
The presence of hydronephrosis, abnormal
sacrum, abnormal vertebra, absent kidney, and
tethered cord in female fetuses, as well as in
males, gives support to the possibility of the
patient having an anorectal malformation.
3.2.3 Cloacal Exstrophy
This malformation is the most serious one in the
spectrum of anorectal and urogenital defects (see
a
a
Fig. 3.7 Bilateral hydrocolpos, diagnosed in utero. ( a )
Dilated bowel entering in the middle of two hemivaginas
with fl uid (hydrocolpos) ( b ) bilateral hydrocolpos. a asci-
tes, b bladder, v vagina, h hydronephrosis
Chap. 17 ). These patients have an omphalocele, a
prominent prolapsed small bowel known as “elephant trunk,” located between two hemibladders,
separated pubic bones, and are frequently associated with a meningocele and abnormalities in the
lower limbs. In addition, they have an exstrophic
References
31
Fig. 3.8 Omphalocele, in utero diagnosis. O omphalo-
cele, M meningocele
Fig. 3.9 “Elephant trunk” (intussuscepted prolapsed
ileum) emerging in between two hemibladders. Arrow
shows uterine wall
bladder which is described or diagnosed prenatally as “absent bladder.”
The omphalocele (Fig. 3.8 ) can be easily seen
in utero. The elephant trunk can also be seen
(Fig. 3.9 ), as well as the separated pubic bones
and the meningocele (Fig. 3.8 ).
The prenatal diagnosis is particularly important in this extremely serious malformation considering the very poor quality of life that these
patients will have during their future life, particularly when they have a severe spinal defi ciency
that may translate into incapacity to walk, for
life. We believe that it is extremely important for
pediatric surgeons, pediatric urologists, as well
as neonatologists to give the parents the most
accurate possible description of the functional
limitations that these patients will suffer from, in
terms of bowel function, urinary function, sexual
function, and other limitations that these patients
will have, so the parents can make a reasonable
decision concerning the possibilities of interrupting the pregnancy, wait for full term, mode of
delivery, and the place where the baby should be
delivered.
References
1. Baronciani D, Scaglia C, Corchia C, Torcetta F,
Mastroiacovo P (1995) Ultrasonography in pregnancy
and fetal abnormalities: screening or diagnostic test?
IPIMC 1986–1990 register data. Indagine Policentrica
Italiana sulle Malformazioni Congenite. Prenat Diagn
5(12):1101–1108
2. Brantberg A, Blaas HG, Haugen SE, Isaksen CV, EikNes SH (2006) Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound
Obstet Gynecol 28(7):904–910. doi:
uog.3862
3. Shono T, Taguchi T, Suita S, Nakanami N, Nakano
H (2007) Prenatal ultrasonographic and magnetic
resonance imaging fi ndings of congenital cloacal anomalies associated with meconium peritonitis. J Pediatr Surg 42(4):681–684. doi:
jpedsurg.2006.12.060
4. Shalev E, Feldman E, Weiner E, Zuckerman H (1986)
Prenatal sonographic appearance of persistent cloaca.
Acta Obstet Gynecol Scand 65(5):517–518
5. Petrikovsky BM, Walzak MP Jr, D’Addario PF (1988)
Fetal cloacal anomalies: prenatal sonographic fi ndings and differential diagnosis. Obstet Gynecol 72(3
Pt 2):464–469
6. Lande IM, Hamilton EF (1986) The antenatal sonographic visualization of cloacal dysgenesis. J
Ultrasound Med 5(5):275–278
7. Odibo AO, Turner GW, Borgida AF, Rodis JF,
Campbell WA (1997) Late prenatal ultrasound features of hydrometrocolpos secondary to cloacal
anomaly: case reports and review of the literature.
Ultrasound Obstet Gynecol 9(6):419–421.
doi:
8. Ohno Y, Koyama N, Tsuda M, Arii Y (2000) Antenatal
ultrasonographic appearance of a cloacal anomaly.
Obstet Gynecol 95(6 Pt 2):1013–1015
9. Hung YH, Tsai CC, Ou CY, Cheng BH, Yu PC, Hsu
TY (2008) Late prenatal diagnosis of hydrometrocolpos secondary to a cloacal anomaly by abdominal
ultrasonography with complementary magnetic resonance imaging. Taiwan J Obstet Gynecol 47(1):79–
83. doi:
10. Hayashi S, Sago H, Kashima K, Kitano Y, Kuroda T,
Honna T, Natori M (2005) Prenatal diagnosis of fetal
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3 Prenatal Diagnosis
hydrometrocolpos secondary to a cloacal anomaly by
magnetic resonance imaging. Ultrasound Obstet
Gynecol 26(5):577–579. doi:
11. Picone O, Laperelle J, Sonigo P, Levaillant JM,
Frydman R, Senat MV (2007) Fetal magnetic resonance imaging in the antenatal diagnosis and management of hydrocolpos. Ultrasound Obstet Gynecol
30(1):105–109
12. Mori M, Matsubara K, Abe E, Matsubara Y,
Katayama T, Fujioka T, Ito M (2007) Prenatal diagnosis of persistent cloaca associated with VATER
(vertebral defects, anal atresia, tracheo-esophageal
fi stula, and renal dysplasia). Tohoku J Exp Med
213(4):291–295
13. Baier SR, Tank ES, Watson PT (2001) Persistent
cloaca: prenatal diagnosis of hydrometrocolpos. J Diagn Med Sonog 17(4):220–224.
10.1177/87564790122250471
doi:
14. Suzumori N, Obayashi S, Hattori Y, Kaneko S, Suzuki
Y, Sugiura-Ogasawara M (2009) Prenatal diagnosis of
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persistent cloaca. Congenit Anom (Kyoto) 49(3):116–
117. doi:
15. Warne S, Chitty LS, Wilcox DT (2002) Prenatal diagnosis of cloacal anomalies. BJU Int 89(1):78–81
16. Cilento BG Jr, Benacerraf BR, Mandell J (1994)
Prenatal diagnosis of cloacal malformation. Urology
43(3):386–388
17. Cacciaguerra S, Lo Presti L, Di Leo L, Grasso S,
Gangarossa S, Di Benedetto V, Di Benedetto A (1998)
Prenatal diagnosis of cloacal anomaly. Scand J Urol
Nephrol 32(1):77–80
18. Morikawa M, Yamada T, Cho K, Yamada H,
Minakami H (2006) Prenatal diagnosis and therapy of
persistent cloaca: a case report. Fetal Diagn Ther
21(4):343–347. doi:
19. Bischoff A, Calvo-Garcia MA, Baregamian N, Levitt
MA, Lim FY, Hall J, Pena A (2012) Prenatal counseling for cloaca and cloacal exstrophy-challenges faced
by pediatric surgeons. Pediatr Surg Int 28(8):781–
788. doi:
10.1111/j.1741-4520.2009.00236.x
10.1159/000092463
10.1007/s00383-012-3133-3
Neonatal Management
4
4.1 Introduction
In dealing with most congenital anomalies, errors
that occur during the fi rst few hours or days of
life may have serious consequences and sequelae.
Early accurate diagnoses, as well as adequate
therapeutic decisions, require a high index of suspicion from pediatricians, neonatologists, pediatric surgeons, pediatric urologists, nurses, and
other physicians and surgeons who take care of
neonatal babies with congenital anomalies.
Our eyes only see what our mind suspects.
It is hard to believe that in this twenty-fi rst century in developed countries, we still hear of
patients born with imperforate anus that were sent
home as “normal babies.” Subsequently, it was the
mother who made the diagnosis or the babies suffer from bowel perforation and some of them die
[
1 – 9 ]. We cannot overemphasize the importance
of the anorectal examination during the fi rst physical examination of a neonate. In addition, it is also
true what is written in the very old textbooks of
pediatric surgery; it is not enough by looking at the
external appearance of the anus, but it is rather
necessary to introduce a little catheter or thermometer to be sure that the anus is patent. There is one
specifi c type of defect in which the babies have a
normal-looking anus externally, a normal anal
canal, approximately 1–2 cm deep, and then an
atresia. That type of defect is the one that can only
be diagnosed by trying to pass a thermometer,
catheter, or an instrument through the anus. That
particular malformation only occurs in 1 % of all
patients born with anorectal malformations [ 10 ].
4.2 Most Common Scenario
As pediatric surgeons, we are called to see a baby
that is just born and has no anus. There are two
very important questions to be answered.
1. Does the baby have a serious associated defect
that may kill him/her within the next few
hours or days of life?
2. Does the baby need some sort of primary anal
repair or a colostomy?
These questions should be answered in the
same order that they are presented here. In other
words, the surgeon must refrain from jumping
into trying to fi nd the answer of the second question but rather concentrate during the fi rst 24 h of
life in trying to answer the fi rst question.
4.3 Answering the Two Most
Important Questions
At this point, the neonatologist and the surgeon
should remember that about 30 % of all babies with
anorectal malformation have some sort of cardiovascular condition [ 11 ]. However, only one third of
that 30 % have serious hemodynamic repercussions that mandate to implement some sort of medical or surgical treatment [ 11 ]. The most common
cardiac congenital anomalies seen in these cases
A. Peña, A. Bischoff, Surgical Treatment of Colorectal Problems in Children,
DOI 10.1007/978-3-319-14989-9_4, © Springer International Publishing Switzerland 2015
33
34
4 Neonatal Management
are patent ductus arteriosus, atrial septal defect,
ventricular septal defect, and tetralogy of Fallot,
and then other more serious conditions are more
rarely seen. The presence of cyanosis or respiratory
distress should alert the clinician to investigate for
the presence of these conditions. At the present
time, most neonatal centers have a pediatric cardiologist and an echocardiogram machine which
allows ruling out most of these conditions.
Eight percent of babies with anorectal malformations are born with esophageal atresia [ 12 ].
Part of the physical examination of the neonate
includes the passing of a nasogastric no. 8 feeding tube through the nostril to confi rm that the
esophagus is patent. When the clinician feels
resistance in the passing of the tube about
8–10 cm from the nostril, it is possible that the
baby has an esophageal atresia (Fig. 4.1 ). In addi-
tion, babies with esophageal atresia cannot swallow their saliva; this represents a risk of aspiration.
The saliva accumulates in their mouth as foam.
Approximately 3 % of babies with anorectal
malformations suffer from duodenal atresia [ 12 ].
A simple abdominal fi lm shows a classic “double
bubble” image (Fig. 4.2 ). The “double bubble”
represents the stomach and the duodenum full of
gas: in addition, there is a conspicuous absence
of gas in the rest of the abdomen. Approximately
50 % of all patients with anorectal malformations
are born with an associated urologic condition
[ 13 ]. The most serious of these are hydronephro-
sis, vesicoureteral refl ux, absent kidney, and
megaureters. One specifi c group of patients has a
very high risk of having kidney damage; those
are patients born with a single kidney, hydronephrosis, vesicoureteral refl ux, and megaureter. In
those cases, we must remember that the single
kidney has been suffering in utero, and therefore,
we must expect a serious functional limitation.
Every effort should be done to protect the damaged kidney. For this, it is mandatory to do a kidney and bladder ultrasound in all babies with
anorectal malformation. If the ultrasound shows
abnormalities such as hydronephrosis, then the
baby will need a full urologic evaluation including, of course, a voiding cystourethrogram. If the
kidney ultrasound is normal and the patient is
passing urine without diffi culty, we must assume
Fig. 4.1 Radiologic image of a baby with esophageal
atresia. Arrow shows the blind end of the esophagus
Fig. 4.2 Characteristic radiologic image known as “dou-
ble bubble” in a baby with duodenal atresia
4.4 Physical Examination
a b
Fig. 4.3 X-ray fi lms of a normal sacrum in a baby with an anorectal malformation. ( a ) AP view. ( b ) Lateral view
35
that most likely his urinary tract is otherwise
healthy.
Taking a baby to the operating room to repair
an anorectal malformation or to open a colostomy
only to fi nd that the baby gets very sick during
the operation because he has a serious cardiac,
esophageal, or kidney problem is an undesirable
and preventable experience.
All babies with anorectal malformations must
have an abdominal x-ray fi lm that shows the degree
of bowel dilatation, the characteristics of the spine,
and the characteristics of the sacrum. The presence
of intraluminal calcifi cations in the rectosigmoid
most likely is due to the passing of urine to the
bowel. Urine mixed with meconium may produce
calcifi cations [
14 , 15 ]. The sacral fi lms must
include AP and lateral views (Figs. 4.3 and 4.4 ).
The characteristics of the sacrum are extremely
important in order to determine the future functional prognosis for bowel control, urinary control,
and sexual function. Traditionally, we evaluated
the sacrum by counting the number of vertebrae.
We found this to be a rather limited nonuseful way,
and therefore, we created what we call the sacral
ratio (Figs. 4.5 and 4.6 ) (see Chap. 6 ).
Taking x-ray fi lms of the sacrum is mandatory
also because we must rule out the presence of a
hemisacrum, which means that the patient has a
presacral mass; this fi nding has important therapeutic and prognostic implications.
An ultrasound of the lower sacrolumbar spine
is extremely useful and must be done during the
fi rst hours of life to determine whether or not the
baby has tethered cord (Fig. 4.7 ). This is also
important to determine the functional prognosis
for bowel and urinary control.
All these studies can be done during the fi rst
24 h of life. Babies with anorectal malformations
are usually not born with a distended abdomen. It
takes a few hours for the abdomen to start becoming distended. It is after 24 h of life that the
abdominal distention becomes critical, and a
management decision must be taken.
4.4 Physical Examination
4.4.1 Male Patients
During our fi rst contact with the baby with anorectal malformation, we should dedicate a special
time for a meticulous detailed examination of
the baby’s perineum. Babies with anorectal
36
a b
4 Neonatal Management
Fig. 4.4 X-ray fi lms of an abnormal sacrum in a baby with an anorectal malformation. ( a ) AP view. ( b ) Lateral view
malformations have different external appearances of their perineum, and they have very
important clinical signifi cance.
The presence of a fl at bottom, meaning
absence of the normal midline groove that all
human beings have between both buttocks, is
usually associated with malformations with bad
prognosis and very highly located rectum
(Fig.
4.8 ). In addition, most patients with anorec-
tal malformations have an anal dimple that represents the point in the perineum where the patients
have the largest concentration of sphincter fi bers
(Fig. 4.9 ). The more prominent the anal dimple,
the better the quality of the sphincter and therefore the prognosis. The absence of an anal dimple
is a very bad sign, usually present in poor prognosis type of defects. The location of the anal
dimple varies from patient to patient. The closer
the anal dimple to the scrotum, the worse the
prognosis (Fig. 4.10 ). The longer the distance
between the tip of the coccyx and the anal dimple, the poorer the prognosis, either because the
anal dimple is located too anteriorly or because
the sacrum is very short or both. We call it a
“good-looking perineum” when the baby has a
well-formed midline groove and a well-located
anal dimple (Fig. 4.9a ). Even by touching that
area, one can see the contraction of the sphincter
of the anal dimple.
The most “benign” of all anorectal malformations is called “perineal fi stula.” The rectum
opens into the perineum, anterior to the sphincter
in a rather narrow orifi ce. This malformation is
also known as a “low defect.”
A perineal fi stula in a male patient may have
different external manifestations. A common one
is the presence of a malformation called “bucket
handle” (Fig. 4.11 ) which is a prominent skin
band under which we can pass a mosquito clamp.
Another external manifestation of a perineal