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Related Experiment Videos

First-trimester simple hygroma: cause and outcome

M P Johnson1, A Johnson, W Holzgreve

  • 1Department of Obstetrics and Gynecology, Hutzel Hospital/Wayne State University, Detroit, MI 48201.

American Journal of Obstetrics and Gynecology
|January 1, 1993
PubMed
Summary

First-trimester nuchal hygromas in fetuses indicate a high risk for aneuploidy. However, fetuses with normal karyotypes often see hygroma resolution and normal birth outcomes.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • First-trimester nuchal hygromas differ from midgestation cystic hygromas in chromosomal abnormalities and prognosis.
  • Simple nuchal hygromas in early pregnancy require distinct evaluation.

Purpose of the Study:

  • To differentiate the characteristics of first-trimester simple nuchal hygromas.
  • To assess the karyotype abnormalities and long-term outcomes for fetuses with first-trimester simple nuchal hygromas.

Main Methods:

  • Ultrasound evaluation and karyotyping of 68 fetuses with simple nuchal hygromas (10-14 weeks' gestation).
  • Monitoring of fetuses with normal karyotypes for hygroma resolution throughout pregnancy.

Main Results:

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  • 41 of 68 fetuses had karyotype abnormalities, with trisomy 21 being most common.
  • 23 of 27 fetuses with normal karyotypes showed hygroma resolution within 4 weeks.
  • Fetuses with resolved hygromas were phenotypically normal at birth.

    • Conclusions:

    • First-trimester simple nuchal hygromas are associated with a high risk of aneuploidy, necessitating prenatal testing.
    • Normal karyotype fetuses with first-trimester hygromas typically experience resolution by 18 weeks' gestation.
    • Most fetuses with resolved hygromas and normal karyotypes have favorable birth outcomes.