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Diagnosis of congenital diaphragmatic hernia

The focus of care includes an OB/GYN, an MFM team, neonatologists, geneticists, pediatric surgeons, and a social worker. Photo: Dr. Dibe Marie Di Gregorio, Dr. Dibe Martin, Dr. Luis Mansilla.

This is the result of a clinical case where a patient with 13 weeks of gestation, in which the fetus was found to have a nuchal translucency, after performing a transvaginal ultrasound that revealed a large cystic hygroma, a heart displaced to the right and a heterogeneous mass with peristalsis in the left chest.

A cystic hygroma is a large fluid-filled area at the nape of the developing baby’s neck, and is diagnosed by nuchal translucency (NT) or nuchal fold measurement.

This procedure consists of measuring -with high-resolution ultrasonography- the region of the baby’s neck, where fluid accumulates physiologically and transiently at this stage of pregnancy (first trimester) that can be detected and measured on ultrasound.

The 32-year-old woman underwent genetic counseling and chorionic villus sampling (CVS) among other negative tests that resulted for Di George and Noonan syndromes.

In utero diagnosis allows for a thorough evaluation to assess for other morbidities that may be associated with CDH, as well as for early intervention which improves the management of prenatal care and postnatal care, which may lead to better neonatal management. , family support and results.

They indicated that early diagnosis is essential in providing a multidisciplinary consultation, in addition that this approach includes specialists in fetal surgeons, geneticists, neonatologists and nutrition consultants in order to provide accurate advice and prognostic information for these families, indicated Puerto Rican specialists.

Once fully evaluated, these babies should be delivered in a tertiary care facility, a facility that can provide immediate respiratory support, as well as surgical intervention (as needed) and the use of extracorporeal membrane oxygenation.

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More of the diagnosis

A congenital diaphragmatic hernia (CDH) is a defect found in the diaphragm that causes the contents of the abdominal cavity to move or shift into the chest cavity.

The occupying effect of the abdominal mass contained in the fetal thorax prevents the fetal lungs from developing, leading to pulmonary hypoplasia. The defect ranges from a small opening to a complete absence of the diaphragm.

Approximately 1,600 babies, or 1 in 2,500 live births, are born with this defect each year. Ultrasound, a form of prenatal diagnosis, has helped detect more than 50% of congenital diaphragmatic hernias in pregnancies with a median gestational age of 24 weeks.

Once the defect has been diagnosed, three-dimensional ultrasound, fetal echocardiography, and fetal magnetic resonance imaging (MRI) can be used to assess the severity of the congenital diaphragmatic hernia.

Although there have been advances in medicine and surgery for congenital diaphragmatic hernia treatments, babies with this defect often spend a lot of time in the hospital because its management requires a multidisciplinary approach, and morbidity rates remain high, ranging from 6 at 8%.

Isolated congenital diaphragmatic hernias have a better prognosis than those diagnosed as part of a syndrome or that are present with multiple anomalies. There are many associated syndromes; the most common include Pentalogy of Cantrell, Apert Syndrome, Brachman-Cornelia De Lange Syndrome, and Beckwith-Wiedemann Syndrome. Chromosomal abnormalities have been reported in 16 to 37% of cases.

Specialists indicate that for this type of condition there is a survival rate of 65% if the defect is isolated, adding that mortality rates vary from 7 to 57% if it is not isolated. They recalled that defects that appear later in pregnancy and those associated with “slipping” intra-abdominal contents also tend to have a better prognosis, as there is less association with lung changes.

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Access the case here.

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