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Increased nuchal translucency and diaphragmatic hernia. A case report
Clinical and Experimental Obstetrics & Gynecology
|June 10, 2015
Summary
Increased nuchal translucency (NT) thickness, a marker in early pregnancy scans, is linked to fetal diaphragmatic hernia. This finding highlights the importance of mid-trimester screening for structural anomalies.
Area of Science:
- Prenatal Diagnosis
- Fetal Medicine
- Medical Imaging
Background:
- Increased nuchal translucency (NT) is a recognized marker in first-trimester screening for chromosomal abnormalities.
- Its association with structural fetal anomalies, including diaphragmatic hernia, requires further investigation.
Observation:
- A case study involving a 33-year-old nulliparous woman with a fetus exhibiting increased NT (2.3 mm) at 12 weeks.
- Biochemical markers (PAPP-A and b-hCG) were abnormal, but fetal karyotype was normal.
- A left-sided diaphragmatic hernia was diagnosed at 18 weeks gestation.
Findings:
- Increased NT was observed in 40% of fetuses with diaphragmatic hernia, with a higher incidence in non-survivors.
- The elevated NT in this case, despite a normal karyotype, was attributed to venous congestion from mediastinal compression by herniated viscera.
- Pulmonary hypoplasia can result from prolonged lung compression.
Implications:
- Increased NT in the presence of a normal karyotype should prompt thorough screening for structural anomalies like diaphragmatic hernia.
- Mid-trimester ultrasound (16-18 weeks) is crucial for diagnosing such conditions.
- Early detection allows for timely counseling and management decisions.
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