Fetal gastrointestinal anomalies

Daniel Kamil, MD, MBA Section Head - Antepartum & Clinics Division of Maternal-Fetal Medicine

Sidra Medical and Research CenterDisclosure for Potential Conflicts of Interest:

High GI Tract Obstruction:

Low GI Tract Obstruction:

Defects in Abdominal Wall Closure

High GI Tract Obstruction: Esophageal , gastric, duodenal and sometimes jejunal obstruction

=> Polyhydramnios 80%

Low GI Tract Obstruction: jejunoileal atresia, malrotation, intestinal duplication or meconium ileus and Large-bowel obstruction

=> Polyhydramnios < 25%

Polyhydramnios

• 1–2% of pregnancies

• Etiology:

Idiopathic (50%) Fetal (20%): gastrointestinal anomalies, CNS anomalies, aneuploidy, hydrops Maternal (30%): Diabetes mellitus, infections, lithium

• Retrospective cohort study (2003 - 2008)

• AFI ≥ 25 cm or a MVP ≥ 8 cm (even in the presence of AFI < 25 cm)

• N = 524 cases

• < 25 cm but with MVP ≥ 8 cm; 25–29.9 cm; 30–34.9 cm; and ≥ 35 cm

• Diabetes, gestational or pre-existing, was more frequent in women with mild polyhydramnios

• Almost 80% of pregnancies with an AFI ≥ 35 cm are associated with a prenatal diagnosis of fetal structural anomalies

• All the pregnancies complicated by fetal trisomy had associated anomalies in addition to polyhydramnios

• Almost 70% had mild polyhydramnios

Gastrointestinal atresia 

▪Oesophageal atresia▪Duodenal atresia ▪ Jejuno-ileal atresia

Fetal intestinal volvulus

▪ Intestinal malrotation

Proximal gastrointestinal obstruction Congenital esophageal atresia

• 1/3500

• 50 % have other anomalies

• 25% cardiac anomalies

• Chromosomal anomalies in 6-10% (T18)

• VACTERL in 15%

Congenital esophageal atresiasign’s

• Polyhydramnion - after 20 weeks

• Small Stomach

• IUGR (in 2nd and 3rd trimester) - 40% A C

Prof. Dr. med. Karim Kalache Sidra's Division Chief of Maternal-Fetal Medicine

hypopharynx

Pouch Sign

Pouch Sign Pouch Sign Duodenal atresia

• 1-3/10,000

• 30 % have T21

• 5-15% of T21 will have DA

• 50-70% have other anomalies (cardiac, GI)

• Morality is 15-40%

Midgut Volvulus• The small bowel and

proximal colon twist around the superior mesenteric artery

• This leads to infarction of the involved intestine (Surgical emergency at birth!)

“Whirlpool sign“  Durand et al., Prenatal Diagnosis, 2008

“Coffee bean sign”

Park et al., World J of Gastroenetrology, 2008

Ultrasonographic Features of Midgut Volvulus

“Whirlpool sign“  Durand et al., Prenatal Diagnosis, 2008

“Coffee bean sign”

Park et al., World J of Gastroenetrology, 2008

Ultrasonographic Features of Midgut Volvulus

CF - small bowel obstruction

N = 29 Cases • Prenatal death: 4/28, 14% • Impaired neurological development:

4/28, 14%

1. Bradycardia/asystole following a vagal overactivity due to the distended esophagus, stomach, and cranial part of the duodenum

2. Raised levels of fetal serum bile acids

Relationship between Bowel Atresia & IUFT

3.

IOL @ 32 weeks if AF-bile acid > 10.0 mmol/L

Dead/IUFD: 9/16 Jejunal atresia: 8/16 Onset at 32-34 weeks: 9/16

? ▪ Omphalocoele (mainly polyhydramnios)

Abdominal wall defects

▪ Gastroschisis (mainly oligohydramnios)

Omphalocele Omphalocele = exomphalos

Intestines, liver, and occasionally other

organs remain outside in a sac (amnion

and peritoneum)

Abdominal contents herniates through

the umbilical cord = MIDLINE

Defect in the development of the

muscles of the abdominal wall

Omphalocelle

• 1/4000

• 50 % have other anomalies

• 25% mortality

• Genetic syndrome in 10%

• Chromosomal abnormalities in 60% (Non liver)

In week 8 (PM) abdominal cavity is too

small to contain all organs

Pathogenesis

Must disappear until week 12

Protrusion of intestine (never Liver!)

into the extracelomic space at the base

of umbilical cord = physiologic

herniation

The cause is unknown.Risk factors

under 20 years - OR 2,5

above 40 years - OR 8,5 !

Obese women

Male fetes

SSRI intake

Multi parity

Omphalocele

Cardiac anomalies (50%)

Neural tube defect (40%).

About15% of live-born have

chromosomal abnormalities.

Larger omphalocele are associated with

a higher risk of cardiac defects

50% will have other congenital defects

Omphalocele Diagnosis

Non liver - suspect aneuploidy

Liver containing can be diagnosed

before 12 weeks

alpha feto protein in maternal serum

High NT

Liver containing or not

Omphalocelle

• Always perform genetic testing

• Look for other anomalies / syndromes

• Heart

• NTD

• Genitourinary

• Cantrell / OEIS / Beckwith-Wiedemann…

Omphalocelle

• Overall survival 90%

• Recurrence risk:

• 1% - if trisomy

• Less than 1% if normal Karyotype

• No early delivery needed

• No caesarian section needed

Gastroschisis Gastroschisis

The umbilical cord is not involved.

The lesion is usually right of midline

Parts of organs may be free in the

amniotic fluid, and not enclosed in a

membranous (peritoneal) sac

Paraumbilical abdominal wall defect

Gastroschisis

In most cases we will expect:

OLIGOHYDRAMNIOS

Might also present as PolyhydramniosDisruption of blood supply to the

developing abdominal wall from the

omphalomesenteric duct artery by the 8.

week of gestation.

Incidence: 1 of 2500-3000 live births

Gastroschisis Aspirin quadruples the risk Change in paternity - Immun?

Young mothers = RR 7! (Cigarets, Alcohol,

drugs, Genitourinary infections…)

Slightly more males than femalesIUGR?

• IUGR facilitates apparition of

gastroschisis, or abdominal wall defect impairs fetal growth - not clear

Gastroschisis - Risk factors

90% No other malformations

10% GI and Cardial

Multifactorial determination with a

2-3% recurrence risk.

Stand-alone congenital defect

Gastroschisis

Gastroschisis

Gastroschisis

• Genetic testing NOT needed (when isolated)

• Look for IUGR (30-60%)

• CAVE:

• Premature birth (30-65%)

• Bowl dilatation and wall thickening

Gastroschisis

• No IUFD until 38 weeks if:

• good growth

• good AFV, BPP and NST

• Bowel appearance

• No early delivery needed (37 - 38 w)

• No caesarian section needed

Thank you very much