[Prenatal diagnosis of triploidy: the experience of Assaf-Harofe Medical Center]

Maya N.aor Dovev, Zvi Vaknin, Rimona Keidar, Orit Reish, Ya'akob Meltzer, Ron Maymon

Research output: Contribution to journalArticlepeer-review

Abstract

INTRODUCTION: Triploidy (69 chromosomes) is the most common chromosomal anomaly encountered in human gestation, occurring in 1% of all conceptions. Most triploidies abort spontaneously during the 1st trimester. In cases that last, it is usually associated with fetal distress that can Lead to many obstetric complications.

OBJECTIVE: To assess the indications for prenatal karyotyping of triploidy during pregnancy in our medical center.

METHODS: This retrospective cohort study involved all singleton pregnancies diagnosed or referred to our institute because of triploidy, during the years 1998-2011.

RESULTS: There were 1879 cases of termination of pregnancies (TOPs). During this period 8 cases of triploidy were aborted. The main indications for prenatal karyotyping in our study group were abnormal sonographic findings during anomaly scans. In addition, in all of the triploidy cases, the NT test was normal. Also, the 1st or 2nd trimester serum markers tests for early diagnosis of trisomy 18 predicted all of the triploidy cases that performed the tests.

DISCUSSION: Our findings corresponded with other studies and show that the 1st or 2nd trimester serum markers tests for early diagnosis of trisomy 18, can lead to identification of triploidy pregnancies.

CONCLUSIONS: The routine screening tests applied in Israel INT, serum markers tests and 2nd trimester anomaly scans) were highly effective in the identification of triploidy pregnancies.

Original languageEnglish
Pages (from-to)559-521
Number of pages39
JournalHarefuah
Volume153
Issue number9
StatePublished - 1 Sep 2014

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