Antenatal Sonographic Diagnosis of Fetal Gastrointestinal Malformations

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of Fetal




A. Barss,



R. Benacerraf,

MD, and


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


We describe in this report our experience in 17

cases with antenatal detection of fetal

gastrointes-tinal malformations and their management and outcome.




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.


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).





















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




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>



7 16 25.5 Size>


8 39 24 Size> dates

9 28 29 Levell

11 31 28.5 Size< dates

12 35 35 Size>


14 31 29 Size>


15 30 33 Level I

Ectopia cordis, Therapeutic abortion at 21 wk. club foot Autopsy findings confirm


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


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


Polyhydramnios Diaphragmatic Cesarean section at term for

ce-hernia phalopelvic disproportion.




Case No.

Age (yr)

Gestational Age First



Reason for Referral

Amniotic Fluid Volume

Ultrasound Findings


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 >


Polyhydramnios Double bubble


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.


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.


1. Heinonen OP, Sloane D, Shapiro 5: Birth Defects and Drugs in Pregnancy. Littleton, MA, Publishing Sciences Group mc, 1977, p 31

2. Bergsma D (ed): Birth Defects Compendium, ed 2. New York, Alan R Liss, 1979

3. Jassani MN, Gauderer MWL, FanaroffAA, et al: A perinatal

approach to the diagnosis and management of

gastrointes-tinal malformations. Obstet Gynecol 1982;59:33

4. Lees RF, Alford BA, Brenbridge AN, et a!: Sonographic appearance of duodenal atresia in utero. AJR 1978;131:701 5. Youngblood JP, Franklin DW, Stein RT: Omphaloce!e: Early prenatal diagnosis by ultrasound. J Ciin Ultrasound


6. Chinn DH, Filly RA, Callen PW, et a!: Congenital diaphrag-matic hernia, diagnosed prenatally by ultrasound. Radiology 1983;148:119

7. Mercer LI, Petres RE, Smeltzer JS: Ultrasonic diagnosis of ectopia cordis. Obstet Gynecol 1983;61:523

8. Zemlyn 5: Prenatal detection of esophageal atresia. J Clin Ultrasound 1981;9:453

9. Schaffer RM, Barone C, Friedman AP: The ultrasono-graphic spectrum of fetal omphalocele. J Ultrasound Med


10. Giulian BB, Alvear DT: Prenatal ultrasonographic diagnosis of fetal gastroschisis. Radiology 1978;129:433

11. Boomsma JHB, Weemhoff RA, Polman HA: Sonographic

appearance of annular pancreas in utero. Diagn Imaging 1982;51:288

12. Lyren#{227}sS, Cnattingius 5, Lindberg B: Fetal jejunal atresia and intrauterine volvulus: A case report. J Perinat Med


13. Heinonen OP, Sloane D, Shapiro 5: Birth Defects and Drugs in Pregnancy. Littleton, MA, Publishing Sciences Group

mc, 1977, p 39

14. Toulahian RJ: Clinics in Perinatoiogy: Intestinal Atresia.

Philadelphia, WB Saunders Co, 1978, vol 5, p 3

15. Klaus MH, Fanaroff AA (edo): Care of the High-Risk

Neo-nate. Philadelphia, WB Saunders 6, 1979, p 135




Vanessa A. Barss, Beryl R. Benacerraf and Fredric D. Frigoletto, Jr

Antenatal Sonographic Diagnosis of Fetal Gastrointestinal Malformations


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Antenatal Sonographic Diagnosis of Fetal Gastrointestinal Malformations

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Fig 3.Framefromreal-timesonogramshowingfetalabdomenintransverseview.Notedistendedloopsofmeconiumandfluid-filledcolonindicatedbyarrowsinthiscaseof imperforateanus.(Case11).

Fig 3.Framefromreal-timesonogramshowingfetalabdomenintransverseview.Notedistendedloopsofmeconiumandfluid-filledcolonindicatedbyarrowsinthiscaseof

imperforateanus.(Case11). p.2
Fig 5.Framefromreal-timesonogramshowingtrans-verseviewthroughfetalabdomen.Thereis largeloopofdilatedjejunumandseverepolyhydramniosinthiscaseofjejunalatresia.(Case12).

Fig 5.Framefromreal-timesonogramshowingtrans-verseviewthroughfetalabdomen.Thereis

largeloopofdilatedjejunumandseverepolyhydramniosinthiscaseofjejunalatresia.(Case12). p.4
Fig 4.Framefromreal-timesonogramshowingmultipleloopsof bowel(arrows),free-floatingin surroundingam-nioticfluid,in thiscaseofgastroschisis.(Case6).

Fig 4.Framefromreal-timesonogramshowingmultipleloopsof

bowel(arrows),free-floatingin surroundingam-nioticfluid,in thiscaseofgastroschisis.(Case6). p.4


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