9/27/2019

Meet the care team Minnesota Perinatal Physicians, Fetal Abdominal Abnormalities part of Allina Health, offers expert consultative care By: Heidi L Thorson, MD, FACOG for all maternal health concerns, September 27, 2019 complications and fetal abnormalities. In collaboration with Children’s Minnesota, we also provide care at Midwest Fetal Care Center –the only advanced fetal care center in the Upper Midwest.

Maternal‐fetal medicine experts available 24 hours a day Cassie Longtin, RN consultations: 612‐863‐4502 | patient transfers: 612‐863‐1000 | allinahealth.org/mnperinatal

Disclosures Objectives

• none • Recognize normal anatomy for GI system

• Recognize normal appearance of small and large bowel in second/third trimesters

• Recognize abnormal appearance for GI system

• Distinguish between gastroschisis and omphalocele and understand clinical importance between the two

Fetal Physiologic bowel herniation

• Normal appearance • 8‐11 weeks gestation • Stomach, liver, large and small bowel, abdominal cord insert (ventral wall) • CRL 19‐41mm • Abnormal • Herniated midgut 4‐7mm • Small or absent stomach • Echogenic bowel • GI obstruction • Ventral wall anomalies • Intraabdominal cysts • Liver anomalies • Intra‐abdominal calcifications

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Normal anatomy Situs – presentation, heart, stomach

Abdominal evaluation G1 at 37 weeks

• Stomach presence • Fluid collections • Normal level I ultrasound • Esophageal atresia • Dilated bowel loops • 30 weeks small stomach and subjectively increased AFI • Diaphragmatic hernia • Intraabdominal cysts • 34 weeks small stomach and polyhydramnios • Stomach location • Situs inversus • 37w for ultrasound and consult • Situs ambiguous

• Stomach size • Bowel obstruction

Situs – presentation, heart/stomach Abdominal circumference

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polyhydramnios Day of life

22 wks anatomy screen Esophogeal atresia

• Absence of segment of esophagus; Often associated with trachea‐esphageal fistula

• Proximal atresia with distal TEF most common

• May be difficult to define when stomach “small”

• Polyhydramnios –rare before 20 weeks

• IUGR in 40%

• >50% have other anomalies • VACTERL association in 30% • Vertebral anomalies, anal atresia, cardiac malformation, TEF/EF, renal anomalies, limb malformation • Genetic syndrome in 10% • Aneuploidy T18, T21

36 weeks 30 wks

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Differential diagnosis Types of

• Jejunoileal atresia • 1 in 400 to 1 in 5000 livebirths • • Incidence of associated chromosomal • Meconium & extra‐GI anomalies is low • Total colonic Hirschsprung’s disease • Genetic counseling indicated due to • Malrotation with/without volvulus risk of recurrence of type IV atresias • Bowel duplication • Parents who have • Intestinal hernia should be advised of 25% chance of • Other intra‐abdominal anechoic images recurrence to offspring • Duodenal atresia • Ovarian cyst • Hydronephrosis

Ventral wall Echogenic bowel defects Omphalocele Gastroschisis

Ultrasound • Second trimester –bright as bone

• Associated with • Cystic fibrosis Location Midline Right of midline • Intrauterine growth restriction Membrane Yes No • Trisomies 21 and 18 Bowel loops Usually normal Often dilated • Swallowed blood Polyhydramnios Usually rare Common • Infection IUGR 10 to 20% 60 to 70% Karyotype Abnormal in 30‐40% Rare Associated structural Up to 70% Rare defects Prognosis Good if isolated; poor if Generally good other anomalies present

Omphalocele

• Omphalocele has a peritoneo‐amniotic membrane covering the defect and the ABD size is significantly larger than the defect in gastroschisis

• ‐Defect in ventral abdominal wall characterized by absent abdominal muscles, fascia, and skin; defect covered by membrane that consists of peritoneum and amnion

• ‐Incidence is 1 in 4000 to 1 in 7000 livebirths omphalocele • ‐ insertion into membrane covering defect at a location distant from the abdominal wall

• ‐High incidence of associated malformations/chromosome abnormalities; Midline with umbilical prenatal karyotype is indicated; fetal echo recommended cord

• ‐Giant omphalocele or extracorporal liver – cesarean section Membrane covering contents

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Omphalocele Gastroschisis

Differential diagnosis

•Gastroschisis •Omphalocele •Ruptured omphalocele PATIENT •Hernia of the umbilical cord 17 weeks •Limb‐body wall complex

2.92 x 1.72 x 3.34 cm Mass extruding through gastroschisis abdominal wall

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Fetal gastroschisis CDC: Etiology: Trends in gastroschisis • Occurs due to incomplete closure of the lateral folds during 6th week of gestation prevalence Associated with young maternal age and smoking by maternal age • Age <20 y  associated with 4x increased risk • Smokers  2.1x greater risk of fetal gastroschisis than nonsmokers

Gastroschisis Intra‐abdominal cysts

• Most common congenital abdominal wall abnormality Evaluation: Differential diagnosis:

• 1 in 4000 births with increasing incidence • Cyst location • Gastrointestinal duplication cyst

• Most have uncomplicated neonatal course and recover well • Surrounding structures • Mesenteric or omental cyst • Subset with complicated course due to loss of intestine or atresias • Sex • Meconium cyst • Increased risk of in‐utero fetal demise • • Color Doppler Ovarian cyst • Delivery of gastroschisis patients prior to term • Choledochal cyst • Increase change of prematurity‐related morbidity • Hepatic cyst • No consensus about ideal time of delivery. • Splenic syst • One prior randomized study 36 weeks vs spontaneous labor • Renal cyst • Trend towards decreased length of stay, earlier enteral feeding. • Umbilical venous varix

Intra‐abdominal Calcifications Patient, Ultrasound Evaluation

• 22w5d scan: • Peritoneum • Male, 534g, AGA, AFV wnl • Meconium peritonitis • 1.5 x 1.2 x 1.3cm abdominal cystic finding with septation and • Infection calcification

• Liver/Gallbladder • 23w1d MRI: • 1.9 x 1.7 x 1.4cm intra‐abdominal meconium pseudocyst, “likely a • Hemangioendothelioma consequence of a distant healed intestinal perforation” • Infection • NIPS, CMV, TOXO sent • Vascular • Patient declined invasive testing • Stones • 26w0d scan: 1003g, AGA, AFV wnl, cyst measuring 2.1 x 1.9 x 1.7cm, no vascular flow, no echogenic or dilated bowel • 28w5d scan: 1392g, AGA, AFV wnl, cyst stable • 40w6d scan: 3862g, AGA, AFV wnl, cyst stable, planned for IOL

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Patient #1; Patient #2 –38w2d

22w5d 28w5d 36w0d

Patient #2 Meconium Peritonitis & Pseudocyst ‐ –38w2d Etiology • Two Proposed Mechanisms: • Peritoneal inflammatory process • Primary Ischemic Event • Bowel Abnormality

• In either case, meconium spills into the • Intraabdominal Ascites peritoneum leading to an intense inflammatory reaction • Adhesions lead to cyst formation • Calcification is secondary to inflammation • Cysts with wall calcifications

• Overall mortality in antenatal reports is 11%‐15% (Zangheri et al 2007) • Major factor in mortality is the underlying • Peritoneal calcification with cause resorption of cystic fluid • Lower mortality than meconium peritonitis diagnosed in the neonatal period • Less association with CF

Meconium Peritonitis & Pseudocyst – Thank you Ultrasound Findings

• Most common cause of fetal intra‐abdominal calcifications (Foster et al, 1987) Research on going • Pathognomonic Findings: Combination of ascites, calcifications and dilated bowel • Extraluminal abdominal calcifications • Present in 85% of cases, most specific finding

• Associated Findings: • Polyhydramnios • Fetal ascites (50% of cases) • Bowel dilation (27% of cases)

• Simple v Complex • Isolated calcifications w/o cysts or bowel involvement • Intra‐abdominal calcifications classify as complex

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Gastroschisis Outcomes of Delivery On‐going research with MWFCC (GOOD) Study Dilated Bowel

• Lead site –Medical College of Wisconsin (PI: Dr. Amy Wagner, MD) • Significance of Prenatally Dilated Bowel (DB) as Predicative Indicator of • 20+ participating sites Surgical Intervention • The MWFCC will be joining the study in 2020, currently awaiting finalization of IRB • No clear consensus on the relationship of dilated bowel findings and need for post‐birth oversight by MCW surgical intervention • the hypothesis that delivery at 35 0/7 ‐ 35 6/7 weeks in stable patients with gastroschisis • Study objective: describe prenatal sonographic findings of dilated bowel (DB) and the is superior to observation and expectant management with a goal of delivery at 38 0/7 ‐ association with postnatal intestinal diagnosis and surgery 38 6/7 weeks. • 4+ year retrospective chart review (9/17/12 –12/31/17) • The primary composite outcome will include , neonatal death prior to discharge, • 22 subjects with DB: 15 (68%) isolated DB, 7 (32%) both DB and echogenic bowel; all respiratory morbidity, and need for parenteral nutrition at 30 days. survived to delivery, 3 died in the postnatal period • Prenatal findings of DB, both isolated or when combined with subjects with both DB and echogenic bowel were significantly associated with a postnatally confirmed abdominal diagnosis subsequent surgical intervention (p<0.01, Fisher’s exact test, table 1) • Take home conclusion: findings of DB were associated with a confirmed post natal abdominal diagnosis and need for postnatal surgical correction

On‐going research with MWFCC On‐going research with MWFCC Echogenic bowel

Table 1. Summary of Patients with Prenatally detected DB • Echogenic bowel (EB) has been linked fetal demise (FD), however its relationship to Isolated DB Both DB and EB Combined N = 15 N= 7 N= 22 adverse outcomes or other abnormalities remains unclear Prenatal Assessment • Study objective: Describe prenatal sonographic findings of EB and the association with Maternal Age, years 28.3±7.9 31.6±3.5 29.4±7.0 fetal survival and other abnormalities at our center GA at Findings, weeks 30.5±4.6 29.8±8.1 30.25±5.7 Polyhydramnios, n (%) 3 (19) 1 (14) 4 (18) • 4+ year retrospective chart review (9/17/12 –12/31/17) Max Bowel Dilation, mm 18.5±8.7 16.7±5.4 17.9±7.9 • 49 subjects total: 35 (71%) isolated EB and 14 (29%) with both EB and dilated bowel IUGR, n (%) 3 (17) 0 (0) 3 (14) Fetal Demise, n (%) 0 (0) 0 (0) 0 (0) • Isolated EB findings ‐ association with IUFD (n = 10, p=0.04) not seen with EB and DB Delivery, Post‐natal Outcomes • Of the 10 FD with isolated EB, 3 were noted as IUGR, 4 cardiac abnormalities, and 2 had GA at birth, weeks 36.2±3.4 36.4±3.0 36.3±3.3 Birthweight, g 2581±1007 2871±735 2673±938 genetic diagnoses Intraabdominal diagnosis, n (%) 9 (60)* 7 (100)* 16 (73)* • Post‐birth, 5 infants from the isolated EB cohort met neonatal demise (NND) Neonatal Demise, n (%) 2 (13) 1 (14) 3 (14) Required Surgery Related to Intraabdominal Diagnosis, n (%) • GA at detection of isolated EB (21.4 weeks) compared to EB when found with gastroschisis 8 (62)* 6 (100)* 14 (67)* (29.3 weeks, p<0.001) or other intraabdominal findings (27.9 weeks, p=0.001) Overall Survival to Discharge, n (%) 13 (87)* 6 (86)* 19 (86)* • It is suggestive that prenatal isolated EB findings may be a subsidiary factor in determining *Statistical significance at α=0.05, Fisher’s exact test or t‐test as appropriate Abbreviations: IUGR = Intrauterine growth restriction, DB = dilated bowel, EB = echogenic bowel patients that may have a higher association with FD or NND

Thank you

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