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Related Experiment Videos

'Identical' twins with discordant karyotypes.

A Nieuwint1, R Van Zalen-Sprock, P Hummel

  • 1Department of Clinical Genetics, University Hospital Vrije Universiteit, Amsterdam, The Netherlands. a.nieuwint@azvu.nl

Prenatal Diagnosis
|March 12, 1999
PubMed
Summary

Heterokaryotypic twin pregnancies, where one fetus has a chromosomal abnormality, are rare. Even in monochorionic twins, genetic testing of both fetuses is crucial due to potential placental mosaicism.

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Area of Science:

  • Genetics
  • Maternal-Fetal Medicine
  • Prenatal Diagnosis

Background:

  • Monochorionic twin pregnancies can present with chromosomal abnormalities in one fetus.
  • Detecting such discordance is critical for accurate prenatal assessment.

Observation:

  • Two cases of heterokaryotypic monozygotic twin pregnancies were identified.
  • Ultrasound detected abnormalities in one fetus in each pair.
  • Chromosomal analysis revealed discordance for trisomy 21 and 45,X.

Findings:

  • DNA studies confirmed monozygotic twins, despite differing karyotypes.
  • Placental biopsies showed chromosomal mosaicism.
  • No direct correlation was found between placental karyotype near the umbilical cord and fetal karyotype.

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Implications:

  • Sampling amniotic fluid from both sacs is recommended for diamniotic twins with fetal abnormalities, even if seemingly monochorionic.
  • Highlights the complexity of diagnosing chromosomal abnormalities in monozygotic twins.