Congenital Diaphragmatic Hernia- A Baby of Early Preterm (i.e., 30 weeks)

The Rare Case

A baby of early preterm (i.e.) 30 weeks was born in our hospital weighing 1.45 kgs at the time of birth. The baby was diagnosed with Congenital Diaphragmatic Hernia (CDH) in an anomaly scan during the 25th week of gestation.

This baby was very special to the family as the parents conceived him after eight years of marriage. In the 30th week, the mother was in labour and was admitted to the hospital. The baby was soon delivered and shifted to a ventilator for five days. On the fifth day, surgery was performed to repair the CDH. Today, the baby is healthy and doing perfectly fine without ventilator support.

What is a Congenital Diaphragmatic Hernia?

Congenital Diaphragmatic Hernia (CDH) is a condition characterised by a hole in the diaphragm (the dome-shaped muscle just below the lungs, separating the chest and abdominal cavities) that causes the intestines to enter the chest cavity.

This rare congenital anomaly occurs in just 1 in 5,000 babies, with a meagre survival rate. The mortality rate for diaphragmatic hernia is very high, where just 3 in 10 babies can survive. Due to the abnormal positioning of the organs, CDH increases the pressure in blood vessels to the lungs, causing pulmonary hypertension. Due to this condition, these babies also have broad chests and flat stomachs.

What Causes Congenital Diaphragmatic Hernia?

Diaphragm development is completed in the 10th week of gestation in a normal scenario. However, in the case of a congenital diaphragmatic hernia, the process of diaphragm development is disrupted, resulting in the formation of a hole in this muscular sheet. The chest contents can move into the abdominal cavity via this hole in the diaphragm, a phenomenon called herniation.

With the advancing pregnancy, the foetal activities and breathing motions increase, causing herniation to aggravate.

A congenital Diaphragmatic Hernia may be genetic, which means there may be an issue with the baby's chromosomes. Often, the baby may have other medical conditions or abnormalities in their organs that may be characteristic of a syndrome. However, CDH may also occur due to an unidentifiable genetic cause. In most cases of CDH, genetic testing is recommended to determine the cause and if it is genetic.

Few Signs of Congenital Diaphragmatic Hernia

Preterm congenital diaphragmatic hernia is usually diagnosed only on prenatal ultrasound when the doctor detects the stomach, liver and intestine in the baby's chest where the lungs are expected to be. The baby's heart may also be pushed to one side due to herniation of the abdominal organs in the chest.

How is Congenital Diaphragmatic Hernia Diagnosed?

Early preterm congenital diaphragmatic hernia is usually detected in a routine 10th-week ultrasound by looking at the excessive amniotic fluid or abdominal contents in the foetal chest cavity. So, if the prenatal diagnosis shows an anomaly, we recommend a detailed ultrasound and genetic test on the baby's chromosomes. We perform the genetic testing using amniocentesis, and the doctors also focus on identifying any syndrome that may have caused the CDH.

We also measure the foetus' lung size and compare it to what is expected at the specified stage of pregnancy. This is done by measuring the lung area to the head circumference ratio. At this stage of diagnosis, it is essential to determine the position of the liver and if it has been pushed into the chest.

We use all these measurements to grade the severity of CDH. MRI or other specialised imaging techniques may be recommended based on the case. In a few cases, a congenital Diaphragmatic Hernia may also be diagnosed after birth when a newborn has trouble breathing.

What are the Treatment Options for Congenital Diaphragmatic Hernia?

The ideal treatment for a congenital Diaphragmatic Hernia is the successful surgical closure of the defect after delivery. However, surgery cannot treat or manage the harm that has already occurred in the lungs. So, depending upon where in the severity spectrum the CDH lies, in some cases, a foetal intervention may be required.

To minimise lung damage, foetal therapeutic measures are recommended in these high-risk cases during pregnancy.

CDH treatment in the foetus includes:

• Foetal tracheal occlusion (FETO)

• Foetal surveillance and delivery planning

Key Takeaway

When we diagnose a congenital Diaphragmatic Hernia in a foetus, we ensure a strong, robust and experienced team of doctors is there to attend to the mother and the baby throughout the pregnancy, at the time of delivery and post-delivery. It is important to deliver CDH babies in hospitals that offer high-quality postnatal care to ensure the baby and mother are in the best health and safe hands. A team of paediatric neonatologists are an integral part of the patient care team to ensure the baby's CDH is operated upon and other complications, if any, are taken care of immediately.

For expert paediatric, obstetric and gynaecological care and treatments, contact us at the best paediatrics hospital in Chennai, Gleneagles Global Health City in Perumbakkam. at 044 44777000 today!