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Related Experiment Videos

Triploidy identified through second-trimester serum screening.

Tianhua Huang1, Eva Alberman, Nicholas Wald

  • 1Genetics Program, North York General Hospital, Toronto, Ontario, Canada. thuang@nygh.on.ca

Prenatal Diagnosis
|March 26, 2005
PubMed
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Maternal serum screening for Down syndrome, neural tube defects, and trisomy 18 can detect triploidy in 90% of cases. This study details triploidy serum marker patterns and prevalence.

Area of Science:

  • Prenatal Diagnosis
  • Maternal Serum Screening
  • Genetics

Background:

  • Triploidy is a rare chromosomal abnormality with significant fetal implications.
  • Maternal serum screening (MSS) is a common method for assessing fetal aneuploidy risk during pregnancy.

Purpose of the Study:

  • To characterize maternal serum marker patterns in triploid pregnancies.
  • To estimate the second-trimester prevalence of triploidy.
  • To evaluate the detection rate of triploidy using standard MSS panels.

Main Methods:

  • Analysis of 42 triploidy cases across six international serum screening programs.
  • Review of serum screening results for Down syndrome, trisomy 18, and open neural tube defects.
  • Calculation of triploidy prevalence based on 22 cases in 599,934 pregnancies.

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Main Results:

  • The second-trimester prevalence of triploidy was observed at 0.37 per 10,000 fetuses.
  • Two distinct maternal serum marker patterns were identified: very high or very low hCG levels.
  • A significant proportion of triploid pregnancies (90%) yielded a screen-positive result for at least one condition (Down syndrome, trisomy 18, or neural tube defects).

Conclusions:

  • Simultaneous maternal serum screening for common aneuploidies effectively identifies a high percentage of triploidy cases.
  • Distinct serum marker profiles in triploidy may aid in interpretation.
  • MSS plays a crucial role in detecting chromosomal abnormalities like triploidy.