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1994-02-28-20 Gastroschisis, familial recurrence © Maness  www.thefetus.net/


Gastroschisis, familial recurrence

Kimberly J. Maness, BA, John A. Phillips, MD, Melinda P. Cohen, MS

Address correspondence to: John A. Phillips, III, MD, Vanderbilt University School of Medicine, Division of Genetics, DD-2205 Medical Center North, Nashville, TN 37232-2578. Ph: 615-322-7601 Fax 615-343-9951 ¶Department of Pediatrics, University of Cincinnati College of Medicine.

Synonyms: Paraomphalocele, laparoschisis, abdominoschisis1.

Definition: A congenital fissure of the abdominal wall not involving the site of insertion of the umbilical cord and usually accompanied by protrusion of the small and part of the large intestine4. Other viscera can be herniated too.

Incidence: 0.5-0.8:10,000 births2,3.

Etiology: Unknown environmental and genetic factors may cause an obstruction of the omphalomesenteric artery and secondary breakdown of the abdominal wall5. Aside from the more common sporadic occurence, gastroschisis may be part of of chromosomal and at least three inherited syndromes.

Pathogenesis: Associated with anatomic and histologic changes in the herniated intestine including shortening which is due to the exposure of the bowel to the amniotic fluid, edema, volvulus and infarction6,7, a pleiotrophic effect of the gene causing the primary abnormality or extended, collateral effects of the environmental agent leading to the defect..

Associated anomalies: Congenital cardiopathy, diaphragmatic, spinal and sternal defects8. When part of a syndrome, associated anomalies of the syndrome should be sought.

Differential diagnosis: Omphalocele, amniotic band syndrome, and bladder (cloacal) exstrophy8.

Prognosis: Good if non-syndromic.

Recurrence risk: 3-5% for siblings9 when non-syndromic.

MESH Gastroschsis ICD9 756.7 BDE 0405 CDC 756.710

Introduction

Gastroschisis is a rare congenital lateral abdominal wall defect through which part of the intestines and possibly other abdominal organs protrude. Abnormal chromosome studies or other anomalies are not usually associated with gastroschisis. Occurrence is predominately in infants of mothers who are less than 25 years of age, and familial recurrence is rare, with Torfs and Curry finding only six published reports of familial recurrence of gastroschisis10. Prenatal diagnosis is possible via obstetrical ultrasonography, and since prognosis depends mainly on the condition of the bowel at birth, earlier detection can improve prognosis11,12.

 Cases report

Family A (pedigree A, fig. 1).

Figure 1: Pedigree of family A.

The patient is a 17-year-old G2P1000 woman. Her first pregnancy at age 16 ended with a fetal demise at 36 weeks gestation. This first pregnancy was uneventful until exam at 29 weeks revealed possible intrauterine growth retardation. At this time an ultrasound was obtained which was consistent with 27 weeks, and revealed borderline intrauterine growth retardation and a soft tissue density adjacent to one of the fetal knees. A repeat ultrasound revealed a large abdominal wall defect. An ultrasound evaluation of the pregnancy at approximately 34 weeks gestation showed severe oligohydramnios, evidence of a ventral wall defect and fetal demise. The 2110g female infant was born via spontaneous vaginal delivery. The autopsy did not reveal the exact cause of death, but it did determine that the fetus had gastroschisis. This decision was based on the fact that the umbilical cord was separate and not involved in the anomaly. No other anomalies were found.

Her second pregnancy at age 17 was complicated by fetal gastroschisis and decreased amniotic fluid noted on 27 week ultrasound (fig. 2). Fetal blood obtained by percutaneous umbilical sampling (PUBS) performed at 27 weeks showed a normal 46,XX karyotype. She had biweekly non-stress testing through pregnancy. She presented at 36 weeks gestation in active labor and progressed to completion. A 2226g female infant was born via spontaneous vaginal delivery augmented with pitocin. Meconium was suctioned and Apgars were 6 at 1 minute and 8 at 5 minutes. The infant was normal except for presence of gastroschisis, which was repaired without complications.

Figure 2: The herniated loops of bowel in front of the abdomen are characteristic of gastroschisis.

 Family B (pedigree B, fig. 3).

Figure 3: Pedigree of family B.

In this family a common father conceived two affected children with two different women. The first pregnancy was to a 19-year-old gravida 1 woman who was referred for ultrasound for elevated maternal serum a fetoprotein (5.4 MOM). The pregnancy was uneventful until an ultrasound at 20 weeks showed multiple loops of bowel located outside of the abdomen and distended and thickened loops of bowel within the abdominal cavity. These findings were consistent with gastroschisis with obstruction. No other anomalies were identified. The infant was born at 35-36 weeks gestation by induced vaginal delivery. The male infant weighed 1,927g and required intubation and suctioning in the delivery. There was scant, thin meconium. No other anomalies were noted at birth. The infant underwent surgical repair of the gastroschisis. The postoperative course was complicated by central line infection, sepsis, and adhesions. He was discharged to home at 39 days of age.

The second pregnancy was to a different unrelated 22-year-old woman in her first pregnancy. As discussed above, her husband has a son by a previous marriage who was born with gastroschisis, rudimentary left testicle, and hearing loss on the right side. This patient was referred for ultrasound scan due to the previous history of anomalous infant. A single fetus was observed at 19 weeks gestation as dated by BPD, femur and humerus length. Abdominal perimeter measured 123mm and showed evidence of gastroschisis. (fig. 4, 5). No other anomalies were noted, and heart motion showed normal rhythm. The pregnancy is currently progressing and is being followed by serial ultrasounds.

Figure 4: Axial view of the gastroschisis.

Figure 5: Longitudinal view of the gastroschisis.

Discussion

Gastroschisis is typically thought to have a low empiric recurrence rate on the order of 3.5% for siblings. To our knowledge there are seven published reports of familial occurrence8,13-18. In these families recurrences occured in sibs, half sibs, first cousins, second cousins once removed, and great uncle and nephew. In these families, all affected members were related through maternal lines. Herein we report two more cases of familial occurrence of gastroschisis, both of which were diagnosed via ultrasonography in which the relationships are full sibs and half sibs who share the same father. To our knowledge, this is the first reported case of familial occurrence in a paternal half sib. Since all reported cases prior to this have been via maternal transmission, one might speculate that imprinting could play a role in the genetic transmission of this disease. However, our observation of a case of paternal transmission makes this less likely.

Both of our reported cases were diagnosed prenatally via ultrasonography. Sonographic diagnosis is based on visualization of a mass containing viscera seen projecting from the anterior abdominal wall of the fetus. Differentiation of omphalocele from gastroschisis has been based on the site of cord insertion, presence of covering membrane, and type of viscera protruding into the defect19-22. Bair et al found that differentiation between omphalocele and gastroschisis occurred correctly in 75% of cases23. This study dates back from 1986, and it is likely that the accuracy is now close to 100%. The distinction is important to make in early pregnancy because of the higher incidence of other anomalies and chromosomal defects in omphalocele, and because of the good prognosis of infants with gastroschisis with proper management in the neonatal period24. Etiologies for gastroschisis which have been proposed include intrauterine rupture of omphalomesenteric artery5 and early intrauterine rupture of an omphalocele with resorption of the sac25.

It is our conclusion that although reported risks for familial recurrence of gastroschisis are low (3.5%), careful family history and evaluation by ultrasound are clearly indicated. We also conclude that both the maternal and paternal family histories are significant since we found that transmission can be via either line. Since prognosis appears to depend mainly on the condition of the bowel at birth, early diagnosis and management are extremely important. Therefore, since ultrasound is a non-invasive, safe procedure which can identify gastroschisis, we recommend all families with history of gastroschisis be carefully evaluated by ultrasonography.

References

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2. Baird PA, MacDonald EC: An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 33:470-478, 1981.

3. Rickett LK: Gastroschisis, Birth Defects Compendium, 2nd ed, edited by Bergsma D, The National Foundation-March of Dimes, New York, Alan R. Liss, 1979.

4. Dorlands Illustrated Medical Dictionary, 27th edition, 1988 W.B. Saunders Company, page 682.

5. Hoyme EH, Higginbottom MC, and Jones KL: The vascular pathogenesis of gastroschisis: Interuterine interruption of the omphalomesenteric artery. J Pediatr 98:228-231, 1981.

6. Birth Defects Encyclopedia, Mary Louise Buyse, MD Editor in Chief, 1990, Blackwell Scientific Publications, Inc., pp. 768-769.

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