Dovev Maya Naor, Vaknin Zvi, Keidar Rimona, Reish Orit, Melcer Ya'akob, Maymon Ron
Harefuah. 2014 Sep;153(9):518-21, 559.
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.
To assess the indications for prenatal karyotyping of triploidy during pregnancy in our medical center.
This retrospective cohort study involved all singleton pregnancies diagnosed or referred to our institute because of triploidy, during the years 1998-2011.
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.
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.
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.
三倍体（69条染色体）是人类妊娠中最常见的染色体异常，在所有妊娠中发生率为1%。大多数三倍体在孕早期自然流产。在持续存在的病例中，通常与胎儿窘迫相关，可导致许多产科并发症。
评估我们医疗中心孕期三倍体产前核型分析的指征。
这项回顾性队列研究纳入了1998年至2011年期间因三倍体在我们研究所被诊断或转诊的所有单胎妊娠。
有1879例妊娠终止（TOPs）。在此期间，有8例三倍体妊娠流产。我们研究组产前核型分析的主要指征是在畸形扫描期间超声检查结果异常。此外，在所有三倍体病例中，颈部透明带（NT）检测均正常。而且，用于18三体早期诊断的孕早期或孕中期血清标志物检测预测了所有进行检测的三倍体病例。
我们的研究结果与其他研究一致，表明用于18三体早期诊断的孕早期或孕中期血清标志物检测可导致三倍体妊娠的识别。
以色列应用的常规筛查试验（血清标志物检测和孕中期畸形扫描）在识别三倍体妊娠方面非常有效。
