I’ve been doing my best to understand what the likely outcomes are depending on what we find out.
Here’s an article that suggests that “Infants with associated anomalies and giant omphaloceles have the poorest outcomes”:
It notes:
· In approximately 50 percent of all cases, the defect contains liver.
· Smaller omphaloceles (that contain only bowel) are associated with chromosomal abnormalities.
· Sac rupture prior to delivery is reported in 10 to 18 percent of cases
· Giant omphaloceles have an abdominal wall defect >5 cm in diameter, and the abdominal cavity in these infants is usually small and underdeveloped due to the absence of intestinal viscera in the abdominal cavity to stimulate growth
· The amount of alpha-fetoprotein (AFP) secreted across the membrane is directly proportional to the size of the defect.
· Elective pregnancy termination occurs in 29 to 51 percent of cases.
· Omphaloceles that are 5 cm or less in diameter are usually good candidates for primary closure. This is a single procedure that closes the defective fascia in the operating room.
· 25% mortality rate for infants with giant omphaloceles and no other underlying anomalies
· 80% mortality rate for infants with omphaloceles and associated anomalies
· Survival rates for those with isolated omphaloceles are reported at 75 to 95 percent.
· Feeding problems, GER, asthma, bronchomalacia, and recurrent respiratory infections have been reported in 40 to 80 percent of cases of giant omphalocele
One study went through survival rates from 1985-2005 of 90 omphalocele pregnancies, depending on the location of the omphalocele:
Omphaloceles can be hypogastric (below the umbilicus), central [most common], or epigastric (above the umbilicus).
For 58 central omphaloceles:
· Abnormal karyotype in 40/58 (69%)
· 89% of the normal karyotype had other anomalies
· 38 (66%) were terminated and 12 (21%) died during pregnancy or after delivery
· Of eight survivals, only two were considered healthy while six had other anomalies and/or substantially impaired development
For 32 epigastric omphaloceles:
· Abnormal karyotype 4/32 (12.5%)
· 71% of the normal karyotype had other anomalies
· 11 (34%) were terminated and 8 (25%) died during pregnancy or after delivery
· Of 13 survivals, six were considered healthy and seven had other anomalies and/or substantial impairment
Trisomy 18 was the most frequent abnormality associated. The conclusion of the article was that central omphaloceles are more strongly associated with abnormal karyotype than are epigastric omphaloceles, and the survival rate was low for both.
Here’s another study on outcomes of 124 patients from 1998-2007:
· Omphalocele defects ranged from 2 to 13 cm. in diameter (average 4.5 cm.).
· 45% of the babies were born premature.
· 2 of the babies were born with their sac ruptured.
Of the 124 babies that were born, 67 (54%) survived:
· 8 babies passed away before treatment.
· 22 had severe associated anomalies that were suspected incompatible with life. They were conservatively treated by topical antiseptic therapy. 2 of the 22 (9%) survived.
· 33 had omphalocele defect larger than 6 cm. in diameter. They were managed by staged operations. 21 (63.6%) survived. The duration from closure to the first oral feeding for these patients ranged from 8 to 20 days.
· 61 had omphalocele defect from 2 to 6 cm. They were operated on via primary closure. Forty-four of the 61 patients (72%) survived. The duration from closure to the first oral feeding for these patients ranged from 7 to 14 days.
The article suggested that vaginal delivery may be appropriate unless it is a giant omphalocele with the liver in it.
Here’s another article giving a sense of outcomes of 65 cases from 1988-2002:
It broke them into three categories before birth:
(1) 14 isolated-no additional structural/karyotype anomalies
(2) 5 associated minor abnormality
(3) 46 major structural/karyotype abnormalities.
However, the article also noted that 1/4 of the cases with isolated or minor abnormalities, an additional major anomaly or BWS was identified after birth:
· cardiac anomalies (2 cases)
· tracheoesophageal atresia with cardiac anomaly (1 case)
· Beckwith-Wiedemann syndrome (BWS) (2 cases)
It also noted that one-third were delivered preterm with a 50% rate of demise. None of the full-term babies from (1) or (2) passed away.
Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay.
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