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 at 13 weeks gestation, in which the fetus was found to have nuchal translucency, after performing a transvaginal ultrasound which revealed a large cystic hygroma, a displaced heart to the right and a heterogeneous mass with peristalsis in the left chest.
A cystic hygroma is a large, fluid-filled area at the back of the developing baby’s neck and is diagnosed by measuring the nuchal translucency (NT) or nuchal fold.
This procedure consists of measuring -with a high resolution ultrasound- the region of the baby’s neck, where the liquid accumulates physiologically and transiently at this stage of pregnancy (first trimester) which can be detected and measured by ultrasound.
The 32-year-old underwent genetic counseling and chorionic villus sampling (CVS) among other negative tests which resulted in Di George and Noonan syndromes.
In utero diagnosis allows for in-depth assessment to assess other morbidities that may be associated with CDH, as well as early intervention that improves management of prenatal and postnatal care, which may lead to better neonatal management , family support and results .
They indicated that early diagnosis is essential to provide multidisciplinary consultation, in addition that this approach includes specialists in fetal surgeons, geneticists, neonatologists and nutrition consultants to provide accurate advice and prognostic information for these families, Puerto Rican specialists said.
Once fully assessed, these babies should be delivered in a tertiary care facility, a facility that can provide immediate respiratory support, as well as surgery (if needed) and the use of extracorporeal membrane oxygenation .
A congenital diaphragmatic hernia (CDH) is a defect found in the diaphragm that causes the contents of the abdominal cavity to shift or shift into the chest cavity.
The occupying effect of the abdominal mass contained in the fetal thorax prevents the development of the fetal lungs, resulting in pulmonary hypoplasia. The defect ranges from a small opening to a total absence of a diaphragm.
About 1,600 babies, or 1 in 2,500 live births, are born with this anomaly each year. median is 24 weeks.
Once the defect is diagnosed, three-dimensional ultrasound, fetal echocardiography, and fetal magnetic resonance imaging (MRI) can be used to assess the severity of congenital diaphragmatic hernia.
Although there have been advances in medicine and surgery for treatments for congenital diaphragmatic hernias, babies with this defect often spend a long time in the hospital because its management requires a multidisciplinary approach, and the rates morbidity remain high, ranging from 6 to 8%.
Isolated congenital diaphragmatic hernias have a better prognosis than those diagnosed as part of a syndrome or with multiple abnormalities. There are many associated syndromes; the most common include Cantrell’s pentalogy, Apert syndrome, Brachman-Cornelia De Lange syndrome, and Beckwith-Wiedemann syndrome. Chromosomal abnormalities were 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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