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Related Experiment Videos

Maternal age-specific risks for trisomies at 9-14 weeks' gestation

R J Snijders1, W Holzgreve, H Cuckle

  • 1Harris Birthright Centre for Fetal Medicine, King's College Hospital Medical School, London, U.K.

Prenatal Diagnosis
|July 1, 1994
PubMed
Summary

Maternal age significantly impacts fetal trisomy risks. Early screening reveals higher incidences of Down syndrome (trisomy 21), trisomy 18, and trisomy 13, which decrease by birth.

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Maternal-fetal medicine

Background:

  • Maternal age is a known risk factor for fetal chromosomal abnormalities.
  • First-trimester screening is crucial for early detection of trisomies.

Purpose of the Study:

  • To determine the incidence of fetal trisomies 21, 18, and 13 between 9-14 weeks' gestation.
  • To estimate maternal age-specific risks for these trisomies in women aged 20-45 years.

Main Methods:

  • Combined data from 15,793 singleton pregnancies undergoing first-trimester karyotyping.
  • Analyzed pregnancies where maternal age was the sole indication for karyotyping (age >= 35).

Main Results:

  • Incidence of trisomy 21 at birth is 54% lower than at 9-14 weeks' gestation.

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  • Relative frequency of trisomies 18 and 13 decreases from 30% at 9-14 weeks to 14% at birth.

    • Conclusions:

    • Fetal trisomy incidences decrease significantly from the first trimester to birth.
    • Early first-trimester screening provides crucial data for accurate risk assessment in pregnancies.