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Related Experiment Videos

Triply discordant triplets: probability, management options, and risks.

P G Pryde1, N B Isada, M P Johnson

  • 1Department of Ob/Gyn, Hutzel Hospital/Wayne State University, Detroit, Michigan 48201.

American Journal of Medical Genetics
|October 1, 1992
PubMed
Summary

Assisted reproductive technologies increase triplet pregnancies, raising the risk of major fetal malformations. This case highlights the rare occurrence of three distinct major malformations in an ovulation-stimulated triplet pregnancy.

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Area of Science:

  • Perinatology
  • Medical Genetics
  • Reproductive Medicine

Background:

  • Multifetal gestations, particularly triplets, are increasingly common due to assisted reproductive technologies.
  • The baseline risk for major malformations in a single fetus is approximately 3%.
  • In triplet pregnancies, the probability of at least one fetus having a major malformation is around 9%.

Observation:

  • This report details the first known case of an ovulation-stimulated triplet pregnancy with three-way discordance for major congenital malformations.
  • Diagnosed via ultrasound in the late second trimester, the malformations were unique to each fetus.
  • Fetus A had congenital diaphragmatic hernia and trisomy 21; Fetus B presented with encephalocele, midline facial defect, and cleft palate; Fetus C had a unilateral claw hand.

Findings:

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  • Fetus A spontaneously demised at 19 weeks gestation.
  • Selective termination of Fetus B was performed due to its complex malformations.
  • Fetus C had a unilateral claw hand but otherwise appeared normal on fetal survey.

Implications:

  • A major malformation in one fetus of a multifetal gestation necessitates a thorough examination of all fetuses.
  • Multiple selective terminations should be considered in cases of multifetal gestations with multiple affected fetuses.
  • This case underscores the complexities and considerations in managing selective termination for abnormal fetuses in multifetal pregnancies.