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Congenital diaphragmatic hernia

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Introduction

A congenital diaphragmatic hernia (CDH) is a hole in the diaphragm that prevents the separation of  the abdomen from the chest during prenatal development. The diaphragm is thin or slightly developed, creating an aperture. The aperture allows the movement of abdominal contents into the chest region affecting the growth and development of the lungs.

As the growth of the lung is affected, it will be smaller. The mobility of the abdominal contents to the chest region results in breathing difficulty that is apparent by birth.

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What are Congenital diaphragmatic hernia?

A congenital diaphragmatic hernia is a significant congenital disease that occurs in every 1 of every 2500 to 3000 live births. Neonates with congenital diaphragmatic hernia need utmost care at delivery. So, early care and diagnosis are of prime importance. It is important to create awareness about the disease helping people with early diagnosis.

What causes Congenital Congenital diaphragmatic hernia?

The exact cause of the disease is unknown, it may be because of other genetic abnormalities contributing to it. Various research projects are working towards understanding the cause. Genetic researchers are innovative in understanding the potential underlying aetiology of congenital diaphragmatic hernia. Genetic counselling for the families affected is possible once doctors unveil the genetic cause of the disease.

The congenital diaphragmatic hernia has varied causes affecting 10-15% of individuals. It is a disorder affecting many organ systems known as a syndrome. The organ systems affected are the heart, brain skeleton, intestine, genitals, kidneys, or eyes. The disease has no known genetic syndrome or chromosomal abnormality. The genes responsible for congenital diaphragmatic hernia are studied for the possible cause of the disease. Genes provide instructions to manufacture proteins are transcription factors enabling the control of gene expression. Environmental factors before birth are known to influence.

What are the symptoms of Congenital diaphragmatic hernia?

Prenatal ultrasound is effective in detecting congenital diaphragmatic hernia. The sonographer feels the stomach, intestine, or liver in the position of the lungs. The external organs of the chest gently flank the heart to one side.

  • ● Breathing difficulties
  • ● Pain in the abdomen
  • ● Intestinal protrusion in the chest cavity
  • ● As the disease is asymptomatic, medical imaging helps in detecting.

A congenital diaphragmatic hernia is of two types – Bochdalek hernia and Morgagni hernia.

Bochdalek hernia is the defect in the lateral diaphragm and posteriorly. Morgagni hernia is a defect involving the frontal part of the diaphragm. 2% of the congenital hernia are of this type and 80-90% of the congenital hernia are of Bochdalek type. Environmental factors at the time of the disease may amplify the chance of congenital diaphragmatic hernia.

What are the diagnosis of Congenital diaphragmatic hernia?

The imaging specialist plays a pivotal role in cutting-edge technologies and prenatal imaging techniques confirming the baby’s diagnosis.

High-resolution fetal ultrasound evaluates congenital diaphragmatic hernia and fetal anatomy in the entirety

Ultrasound fetal MRI provides anatomic information about the congenital diaphragmatic hernia along with measuring lung volumes. Fetal echocardiogram enables evaluation of fetal heart structure and function.

These tests help in identifying the side of the diaphragm affected, the left, right, and the sides and the organs in the chest while measuring the lung volume to inform about how the baby could get affected during birth.

How to manage congenital diaphragmatic hernia during pregnancy?

The potential outcomes and the treatment options are made available after reviewing the image and test results. During ultrasound follow-ups in pregnancy, lung measurement and baby’s growth is monitored, and the amniotic fluid around the baby is measured.

Tests are performed at 34 weeks for monitoring fetal well-being.

A congenital diaphragmatic hernia can be a severe form of illness resulting in death. In such cases, treatment before birth enables the growth of lungs before birth so these children can survive and thrive. Precautionary measures are taken at the time of delivery ensuring the safety of the baby.

What is the Treatment for Congenital diaphragmatic hernia?

congenital diaphragmatic hernia affects 50 babies in a year in the US.  A multidisciplinary team with optimum care guidelines has been effective in safeguarding babies. In the case of surgical repair, oscillator ventilator, heart-lung machine, or nitric oxide. Once babies respond to initial ventilation and then transition to high-frequency oscillatory ventilation that delivers breaths and pressure differently.

What are the Risks associated with Congenital Diaphragmatic Surgery:?

Risks associated with surgery are less known as the babies are ventilated by facilitating oxygen to the lungs and removing carbon dioxide. Your baby may experience discomfort from medications administered and inhalation therapy.  A breathing tube is inserted in your baby in the ventilator, with a tube in the mouth and the nose to decompress the stomach,  so that lungs can expand while breathing.

Your babies are treated with gentle ventilation, a specific mechanism providing breathing support to the babies.

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FAQ's

Can Babies with CDH Survive and Prognosis for your Babies with a Congenital Diaphragmatic Hernia?

Babies are diagnosed with Congenital Diaphragmatic Hernia location of the liver is the best indication and the prognosis includes measurements taken during ultrasound and MRI tests. Factors that contribute to the disease are genetic factors and environmental influences.

What are the Consequences When your Baby is Diagnosed with a Congenital Diaphragmatic Hernia?

When a baby is born with Congenital Diaphragmatic Hernia they are handed over to the Newborn infant stabilisation team adjacent to the resuscitation room. They insert a tube into the baby’s airway, and then another tube is inserted into the baby’s nose, mouth descending to the stomach keeping the space for fluid and air.
This enables the baby’s lungs further for expansion. Intravenous lines are situated on the baby’s hands, feet, or umbilical cord to administer medications, fluid while monitoring specific blood levels.

What is Meant by the Term Gentle Ventilation?

Gentle ventilation is providing breathing support to babies with Congenital Diaphragmatic Hernia minimizing the oxygen percentage, the number of breaths, and amount of pressure preventing secondary damage.

What is the Significance of Involving Cardiac and Pulmonary Terms in Caring for your Baby?

A pediatric cardiologist performs an echocardiogram for detecting high blood pressure in the lungs immediately after the baby arrives at N/ICU. The echo is taken at frequent intervals for the baby’s response to medicines and for treating pulmonary hypertension effectively. In severe cases, cardiac catheterization is done.

When is the Right time for Performing Congenital Diaphragmatic Hernia Repair?

Treating a stable baby is safe and stability is set on the parameters of pulmonary hypertension, ventilator settings, blood gases, blood pressures, diuresis.

What Sets on a Baby with a Patch for Congenital Diaphragmatic Hernia Repair?

When a hole in the diaphragm is enlarged, closing it with a suture becomes difficult. The patch is positioned in a way preventing interference from the baby’s long term growth.

How Long will a Baby with Congenital Diaphragmatic Hernia be in the Hospital?

The baby will have to be there in the hospital for around 2 to 3 months.

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