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Non-Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First

Michelle Joy Wang1, Maria Bazan1, Davia Schioppo1

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Outcomes for fetuses with cystic hygromas (CH) depend on non-invasive prenatal testing (NIPT) results, nuchal translucency (NT) size, and spontaneous regression. These factors modify the risk of genetic abnormalities and adverse pregnancy outcomes.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Cystic hygromas (CH) are common fetal abnormalities detected in early pregnancy.
  • Understanding the prognostic factors for CH is crucial for accurate genetic counseling and management.

Purpose of the Study:

  • To evaluate the outcomes of fetuses diagnosed with cystic hygromas (CH).
  • To assess the influence of non-invasive prenatal testing (NIPT) results, nuchal translucency (NT) size, and spontaneous hygroma regression on fetal outcomes.

Main Methods:

  • Retrospective cohort study of 294 fetuses with CH diagnosed via first-trimester ultrasound over 9 years.
  • Primary outcomes included pathogenic genetic abnormalities, structural malformations, and perinatal loss.
  • Secondary outcomes encompassed pregnancy termination and live birth rates.

Main Results:

  • 184 fetuses (64%) had genetic abnormalities. Among those without a genetic diagnosis, 26% had structural anomalies.
  • A low-risk NIPT result still carried a 19% residual risk of genetic findings. Adverse outcomes increased with larger NT size.
  • Spontaneous CH resolution by the second trimester was associated with a lower incidence of genetic abnormalities (13%).

Conclusions:

  • Non-invasive prenatal testing (NIPT) results, nuchal translucency (NT) size, and early hygroma resolution are significant modifiers of first-trimester cystic hygroma outcomes.
  • These factors aid in predicting the risk of genetic abnormalities and adverse pregnancy outcomes.