Diagnosis of congenital hiatal hernia

The focus of care includes the OB/GYN, the MFM team, neonatologists, geneticists, pediatric surgeons, and the social worker. Photography: Dr. Depp Marie de Gregorio, d. Deb Martin, Dr.; Luis Mancilla.

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

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

This procedure consists of measuring – using high-resolution ultrasound – the area of ​​\u200b\u200bthe baby’s neck, physiological and transient fluid accumulation at this stage of pregnancy (first trimester) that can be detected and measured by ultrasound.

The 32-year-old underwent genetic counseling and chorionic villus sampling (CVS) among other negative tests that led to DiGeorge and Noonan syndromes.

Diagnosis in utero allows for comprehensive evaluation to assess other pathologies that may be associated with CDH, as well as for early intervention that improves management of prenatal and postnatal care, which may lead to better management of the newborn. Family support and results.

They noted that early diagnosis is essential in providing multidisciplinary counseling, in addition to that this approach includes specialists in fetal surgeons, geneticists, neonatologists and nutrition consultants in order to provide accurate advice and prognostic information to these families, as noted by specialists in Puerto Rico.

Once fully assessed, 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 diagnosis

Congenital hiatal 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 effect of occupying the abdominal mass located in the fetal chest prevents the fetal lungs from developing, resulting in pulmonary hypoplasia. The defect ranges from a small opening to the 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 hiatal hernias in pregnancies with an average gestational age of 24 weeks.

Once the defect is diagnosed, 3D ultrasound, fetal echocardiography, and fetal magnetic resonance imaging (MRI) may be used to assess the severity of a congenital diaphragmatic hernia.

Despite advances in medicine and surgery in treatments for congenital hiatal hernias, children with this defect often spend a significant amount of time in the hospital because managing it requires a multidisciplinary approach, and morbidity rates remain high, ranging from 6 to 8%.

Isolated congenital hiatal hernias have a better prognosis than those diagnosed as part of a syndrome or present with several anomalies. There are many syndromes associated with it. 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 note that the survival rate for this type of condition is 65% if the defect is isolated, adding that mortality rates range from 7 to 57% if it is not isolated. They noted that defects that appear later in pregnancy and those associated with intra-abdominal contents slipping also tend to have a better prognosis, as there is less association with pulmonary changes.

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