Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening

Po Jen Cheng*, Sheng Wen Shaw, Jin Chung Shih, Yung Kuei Soong

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

36 Scopus citations

Abstract

BACKGROUND: Chromosomal abnormality in one fetus of a monozygotic twin pregnancy is rare, and discussion of prenatal detection of such a case offers some insight into this clinical problem. CASE: A 28-year-old gravida 1 had ultrasound screening at 11 weeks of gestation that revealed a monochorionic, diamniotic twin pregnancy with increased nuchal translucency (7.7 mm) in one fetus. Subsequent evaluation showed one 45,XY,-21 karyotype and one normal male karyotype. The pregnancy was monozygous by DNA analysis. The affected neonate died 5 minutes after delivery of both twins by cesarean. CONCLUSION: Monochorionic twins discordant for fetal abnormalities can be evaluated with molecular analysis. Study of such cases may reveal the extent to which an early diagnosis can lead to therapeutic interventions to support survival of the viable twin.

Original languageEnglish
Pages (from-to)538-541
Number of pages4
JournalObstetrics and Gynecology
Volume107
Issue number2 II
DOIs
StatePublished - 02 2006

Fingerprint

Dive into the research topics of 'Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening'. Together they form a unique fingerprint.

Cite this