Antenatal
Sonographic
Diagnosis
of Fetal
Gastrointestinal
Malformations
Vanessa
A. Barss,
MD,
Beryl
R. Benacerraf,
MD, and
Fredric
D. Frigoletto,
Jr, MD
From the Department of Obstetrics and Gynecology, Brigham and Women’s Hospital, Boston
ABSTRACT. Fetal gastrointestinal abnormalities are
readily detected by ultrasonography. The presentation,
management, and outcome of 17 cases of fetal
gastroin-testinal and associated anomalies are presented.
Ante-natal knowledge of these abnormalities can potentially
decrease neonatal morbidity and mortality because the
appropriate preparations can be made in advance of
delivery. Pediatrics 1985;76:445-449; fetal ultrasonogra-phy, gastrointestinal malformation, fetus, abdomen.
Fetal gastrointestinal malformations occur with
an approximate incidence of 6/1000 births’ and can
often be diagnosed antenatally by ultrasound.2 The
ability to diagnose fetal gastrointestinal malfor-mations in utero has three potential benefits: (1)
The appropriate neonatal and surgical teams can be mobilized in advance of the delivery of a sick neonate, (2) shock and confusion both in parents
and physicians can be avoided in the delivery room,
and (3) parents have the opportunity to terminate electively an early pregnancy because of severe
malformations.3
We describe in this report our experience in 17
cases with antenatal detection of fetal
gastrointes-tinal malformations and their management and outcome.
MATERIALS
AND
METHODS
Fetal gastrointestinal abnormalities were
de-tected ultrasonographically in 17 patients between
January 1982 and March 1984. The indications for
Received for publication July 26, 1984; accepted Sept 27, 1984. Reprint requests to (V.A.B.) Department of Obstetrics and Gynecology, Brigham and Women’s Hospital, 75 Francis St, Boston, MA 02115.
PEDIATRICS (ISSN 0031 4005). Copyright © 1985 by the American Academy of Pediatrics.
sonography included uncertain dates, fetal biophys-ical assessment, size-dates discrepancy, elevated maternal serum a-fetoprotein, and referral from a level I ultrasound facility. A level I ultrasound includes an assessment of gestational age and a description of fetal lie and placental position. Son-ograms were performed using ATL, Acuson, and Technicare real-time equipment, using a 3-MHz, a 3.5-MHz, and a 5-MHz transducer, respectively.
During the scanning, complete fetal structural surveys were performed, including evaluation of all organ systems. This included views ofthe abdomen, both on a longitudinal and transverse plane. The diagnosis of gastrointestinal anomaly was based on
the appearance (dilation or absence) of the stomach
bubble, the presence of other abnormal fluid-filled
loops ofbowel, disruption ofthe anterior abdominal
wall, and disruption of the diaphragm. The amount
of amniotic fluid present was also noted.
Follow-up was available in all cases, either
through surgical, pathologic, or pediatric evalua-tion.
RESULTS
Clinical data from the 17 patients is presented in
the Table. Nine of the fetuses had malformations
involving organ systems other than the gastrointes-tinal tract. These included two complete ectopia cordis; one omphalocele in conjunction with a cleft palate and club foot (Fig 1); one diaphragmatic hernia with hypoplastic lungs; one gastroschisis in an infant with tnisomy 13 associated with an ab-normally shaped head, cleft lip and palate; and three fetuses with duodenal atresia and Down
syn-drome (Fig 2). The ninth fetus had severe ascites
and dilated loops of bowel due to an imperforate anus, with multiple other abnormalities involving the genitouninary tract (Fig 3).
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Fig 1. Top, Frame from real-time sonogram showing
large omphalocele, including both bowel and liver,
inch-cated by straight arrows. Note that umbilical cord is
visible adjacent to omphalocele (curved arrow). (Case 3).
Middle, Frame from real-time sonogram showing large
omphalocele (small arrows) with marked
polyhydram-nios. Note stomach bubble partly in omphalocele, as
shown by large arrow. (Case 4). Bottom, Frame from
real-time sonogram showing large omphalocele containing
entire liver (arrows). Note severe ascites in peritoneal cavity. (Case 8).
Fig 2. Frame from real-time sonogram showing trans-verse view through fetal abdomen with two fluid-filled structures consistent with duodenal atresia. Note severe polyhydramnios. (Case 5).
Fig 3. Frame from real-time sonogram showing fetal abdomen in transverse view. Note distended loops of meconium and fluid-filled colon indicated by arrows in this case of imperforate anus. (Case 11).
gastrointestinal abnormalities. These included two additional cases of omphalocele (Fig 1), one gas-troschisis (Fig 4), one jejunal atresia (Fig 5), one esophageal atresia, one annular pancreas with
per-forated viscus, and one diaphragmatic hernia. The
eighth fetus was examined at 42 weeks for
Case Age Gestations! Reason for Amniotic Fluid Ultrasound Outcome
No. (yr) Age First
Scanned (wk)
Referral Volume Findings
1 32 20 Level I Normal
2 26 35.5 Level I
3 23 33 Level I Normal
6 20 20 Elevated Normal maternal
serum
a-Normal
Normal
10 19 Postterm Biophysical Normal, meconium Dilated stom- Fetal distress, meconium in
stom-profile ach.
13 38 23 Twins Normal
TABLE. Clinical Data
4 22 35 Size> dates
5 31 32 Size>
dates
feto-pro-thin
7 16 25.5 Size>
dates
8 39 24 Size> dates
9 28 29 Levell
11 31 28.5 Size< dates
12 35 35 Size>
dates
14 31 29 Size>
dates
15 30 33 Level I
Ectopia cordis, Therapeutic abortion at 21 wk. club foot Autopsy findings confirm
ul-trasound.
Polyhydramnios Ectopia cordis Premature labor at 35.5 weeks.
Vaginal delivery. Bowel, liver, spleen, bladder, heart, and left
lung all external to body. Omphalocele, Term delivery. Neonatal death.
club foot, cleft Ultrasound findings confirmed
palate at autopsy.
Polyhydramnios Omphalocele Term delivery. Operated on at birth with good neonatal out-come.
Polyhydramnios Duodenal atre- Term delivery. Down syndrome, sia duodenal atresia. Operated on
at birth with good neonatal
outcome.
Gastroschisis Term delivery. Surgery at birth with good neonatal outcome.
Polyhydramnios Duodenal atre- Spontaneous rupture of
mem-sia branes at 30 wk. Down
syn-drome. Repair of duodenal atresia at birth with good
neo-natal outcome. Omphalocele Stillbirth at term.
with ascites
Diaphragmatic Cesarean section at term,
neo-hernia natal death secondary to
pul-monary hypoplasia.
ach, meco-nium in stom-ach
Oligohydramnios Ascites, dilated Intrauterine fetal death at 30 wk. loops of bowel Imperforate anus. Absent left
kidney, left ureter, left horn of uterus, and left common iliac
artery; dilated bladder, absent gallbladder, cystic right kidney,
single umbilical artery, dilation
of gut.
Polyhydramnios Jejunal atresia Term delivery. Surgery at birth with good neonatal outcome. Duodenal atre- Down syndrome, one twin.
Ther-sia of one apeutic abortion at 23 wk. twin
Polyhydramnios Absent gastric Cesarean section at 35.5 wk.
bubble, di- Abruption, esophageal atresia. lated bowel
loops
Polyhydramnios Diaphragmatic Cesarean section at term for
ce-hernia phalopelvic disproportion.
-,
TABLE-Continued
Case No.
Age (yr)
Gestational Age First
Scanned
(wk)
Reason for Referral
Amniotic Fluid Volume
Ultrasound Findings
Outcome
16 30 35 Cardiac ar-rythmia
Oligohydramnios Dilated stomach and bowel, bow-shaped head
Cesarean section at term. Tn-somy 13, gastroschisis, cleft palate, neonatal death.
17 23 38 Size >
dates
Polyhydramnios Double bubble
sign
Repeat caesarean section at term.
Annular pancreas, perforated
viscus with meconium penitoni-tis. Surgery at birth with good neonatal outcome.
Fig 4. Frame from real-time sonogram showing multiple
loops of bowel (arrows), free-floating in surrounding am-niotic fluid, in this case of gastroschisis. (Case 6).
day because of fetal distress. Abundant meconium
was noted in the amniotic fluid and presumably the
fetus had swallowed meconium antenatally, as
noted on the sonogram; the outcome was good. The overall accuracy of diagnosis of the
abnor-malities described above was 16 out of 17. All of the
abnormalities were correctly diagnosed except for one fetus with gastroschisis. The ventral wall defect and gastroschisis could not be well seen because of
the severe oligohydramnios with virtually absent amniotic fluid; however, the abnormally shaped
head and severely dilated stomach were appreci-ated.
Of the 17 cases, there were two therapeutic
abor-tions, five cases of stillbirth or immediate peninatal
death, and ten survivors. One infant with diaphrag-matic hernia died shortly after corrective surgery because of severely hypoplastic lungs. Eight infants had corrective surgery performed after birth and
survived to leave the nursery.
Eight of the 17 sonograms revealed
polyhydram-Fig 5. Frame from real-time sonogram showing
trans-verse view through fetal abdomen. There is large loop of
dilated jejunum and severe polyhydramnios in this case
ofjejunal atresia. (Case 12).
nios, two had oligohydramnios, and seven had a normal amount of amniotic fluid.
DISCUSSION AND CONCLUSIONS
Fetal gastrointestinal malformations are among the most common types of birth defects and those most easily corrected surgically. The literature con-tains a multitude of single-case reports or short series of cases in which the prenatal diagnosis of gastrointestinal abnormalities was made.4’2 This series contains a cross-section of abnormalities in-volving the gastrointestinal tract detected prena-tally by ultrasound. Although gastrointestinal
mal-formations may be diagnosed antenatally with the
use of ultrasound, a definite benefit of routine son-ographic screening of every pregnant woman has not yet been demonstrated.
Polyhydramnios occurs with many gastrointes-tinal abnormalities, either because of regurgitation
obstruction or, possibly, through transudation across an open or membranous fetal abdominal
wall. Polyhydramnios occurred in 47% of our cases, and the resulting secondary uterine distention
fre-quently prompted the initial examination with ul-trasound.
Gastrointestinal anomalies occur in isolation
71% of the time.’3 Multiple organ systems are
in-volved in the remaining 29% of cases with the following frequency: CNS 8.3%, cardiovascular
13.9%, musculoskeletal 8.6%, respiratory 11%, gen-itourinary 13%, eye/ear 1.3%, syndromes 6.3%, and
tumors 1.4%.13 Although our series is too small to
calculate the frequencies of multiple associated ab-normalities, it is clear that they occur and should
be carefully looked for. This information is crucial
in diagnosing fetal condition and determining fetal prognosis and management. In addition, genetic amniocentesis should be considered when duodenal atresia is suspected sonographically, because tn-somy 21 may be present in 30% of these cases.’4
Antenatal diagnosis of diaphragmatic hernia may
be helpful in the management of these critically ill
infants. Prior knowledge of fetal gastrointestinal
tract obstruction may also influence immediate neonatal management. These infants should be
carefully suctioned to avoid aspiration of large amounts of stomach contents and, therefore, these
babies would not be candidates for breast feeding on the delivery room table.’5”6
The cases of ectopia cordis illustrate the benefits of antenatal knowledge of congenital abnormalities in which there is no hope for neonatal survival. Only one case was diagnosed early enough for ten-mination of pregnancy, although the parents could
be prepared for the poor outcome of the second
case. Although one of the cases of gastroschisis was diagnosed at 20 weeks sonographically, the parents
opted to continue the pregnancy, and their neonate
had an excellent outcome after surgery. This case illustrates that not all of the gastrointestinal ab-normalities, severe as they may seem, are hopeless
and that with neonatal-pediatric surgical expertise,
intervention can be successful after birth.
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