Thursday, December 01, 2022

First trimester cystic hygroma: diagnosis of congenital diaphragmatic hernia

The focus of care includes an OB/GYN, an MFM team, neonatologist, geneticist, pediatric surgeon, and a social worker. Photo: Dr. Dibe Marie Di Gregorio, Dr. Dibe Martin, Dr. Luis Mancilla.

This is the result of a clinical case where a patient with a 13-week gestation, in whom a transvaginal ultrasound after performing a transvaginal ultrasound, found the fetus to be translucent, with a large cystic hygroma, a displaced heart to the right and the detection of a heterozygous walked. Mass with peristalsis in left chest.

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

The procedure involves high-resolution ultrasonography—the area of ​​the baby’s neck where fluid accumulates physiologically and transiently at this stage of pregnancy (the first trimester), which 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 in Di George and Noonan syndromes.

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

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

Once fully evaluated, these children should be delivered to a tertiary care facility, a facility that can provide immediate respiratory support, along with surgical intervention (as needed) and using extracorporeal membrane oxygenation. can.

more diagnosis

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

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

About 1,600 babies, or 1 in 2,500 live births, are born with this defect every year. Ultrasound, a form of prenatal diagnosis, has helped detect more than 50% of congenital diaphragmatic hernias in pregnancies with an average 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 congenital diaphragmatic hernia.

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Although there have been advances in medicine and surgery for congenital diaphragmatic hernia treatment, children with this defect often spend a lot of time in the hospital because its management requires a multidisciplinary approach, and the morbidity rate is as high as 6 to 8%. Lives.

Isolated congenital diaphragmatic hernias tend to have a better prognosis than those diagnosed as part of a syndrome or presenting with multiple abnormalities. There are several associated syndromes; The most common include Cantrell’s pantology, Apert syndrome, Brachmann–Cornelia de Lange syndrome and Beckwith–Wiedemann syndrome. Chromosomal abnormalities have been reported in 16 to 37% of cases.

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

Access the case here.

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