Anemia of Prematurity - Portal Neonatal

Frequency: Internationally: CDH occurs in 1 of every 2000-4000 live births and accounts for 8% of
all major congenital anomalies. The risk of recurrence of isolated CDH for future siblings is
approximately 2%. Familial CDH rarely occurs and may be due to a multifactorial/threshold
inheritance pattern or, in some cases, an autosomal recessive pattern. CDH can also occur as a
part of Fryns syndrome, an autosomal recessive disorder with variable features, including
diaphragmatic hernia, cleft lip or palate, and distal digital hypoplasia.
Mortality/Morbidity:
• Mortality is difficult to determine. This is partially because of the hidden mortality for this
condition. Hidden mortality refers to infants with CDH who are so severely affected that they
die prior to transfer to a surgical site. This bias may be especially important when evaluating
institutional reports of outcome.
• Population-based studies report survival rates ranging from 25-60%. Infants with multiple
anomalies have much lower survival rates than those with isolated defects.
Sex: Most studies report a male preponderance for isolated posterolateral CDH (male-to-female
ratio of approximately 1.5:1).
Age:
• While CDH is most commonly a disorder of the newborn period, as many as 10% of patients
may present after the newborn period and even during adulthood.
• Outcome in patients with late presentation of CDH is extremely good, with low or no
mortality.
History:
CLINICAL Section 3 of 10
• Infants may have an antenatal history of polyhydramnios.
• Infants most commonly present with a history of cyanosis and respiratory distress in the first
minutes or hours of life, although a later presentation is possible.
Physical:
• Frequently, infants exhibit a scaphoid abdomen, respiratory distress, and cyanosis.
• In left-sided posterolateral hernia, auscultation of the lungs reveals poor air entry on the left,
with a shift of cardiac sounds over the right chest.
Causes:
• The cause of CDH is largely unknown. No single gene mutation has been identified as
producing or contributing to this anomaly.
• Posterolateral hernia may occur as an isolated defect or in association with other congenital
anomalies. CDH can occur as part of a multiple malformation syndrome in up to 40% of
infants, principally with cardiovascular, genitourinary, and gastrointestinal malformations.
Lethal anomalies are present in up to 16% of infants.
• Karyotype abnormalities have been reported in 4% of infants with CDH, and CDH may be
found in a variety of chromosomal anomalies including trisomy 13, trisomy 18, and
tetrasomy 12p mosaicism. CDH may be associated with nonchromosomal disorders such as
the de Lange syndrome.
• Retrosternal hernias are also associated with cardiovascular, genitourinary, and
gastrointestinal malformation.