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因胚胎活检用于遗传性疾病植入前诊断而妊娠的产科结局。

Obstetric outcome of pregnancies resulting from embryos biopsied for pre-implantation diagnosis of inherited disease.

作者信息

Soussis I, Harper J C, Handyside A H, Winston R M

机构信息

Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.

出版信息

Br J Obstet Gynaecol. 1996 Aug;103(8):784-8. doi: 10.1111/j.1471-0528.1996.tb09874.x.

Abstract

OBJECTIVE

Pre-implantation diagnosis of inherited disease is now a viable option for some couples at risk of transmitting inherited disorders to their children. Since the pregnancy begins knowing that the embryo is not at risk, the need for repeated terminations is eliminated. Up to 25% of the embryo is removed during the procedure, and so it is important to study the resulting pregnancies. Here we report on the obstetric outcome of our first 16 pregnancies resulting from embryo biopsy and preimplantation diagnosis of inherited disease.

SETTING

Teaching hospital.

SAMPLE

The first 16 pregnancies (12 singletons and 4 twins) following pre-implantation diagnosis.

RESULTS

Three singleton pregnancies were lost in the first trimester. Of the remaining pregnancies, two had no prenatal diagnosis, six cases of X-linked disease had the sex confirmed by ultrasound and chorionic villus sampling was performed in the remaining five. All the singleton pregnancies had an uneventful antenatal course and the birthweights and Apgar scores of the babies were normal. The twin pregnancies presented obstetric complications but these were not unusual.

CONCLUSIONS

Fifteen healthy infants were born, but for the foreseeable future pre-implantation diagnosis pregnancies should be closely followed up.

摘要

目的

对于一些有将遗传性疾病传给子女风险的夫妇而言,植入前遗传病诊断如今是一种可行的选择。由于怀孕伊始就知道胚胎没有患病风险,也就无需反复进行终止妊娠。在该操作过程中会移除高达25%的胚胎组织,因此研究由此产生的妊娠情况很重要。在此,我们报告经胚胎活检和植入前遗传病诊断后的首批16例妊娠的产科结局。

地点

教学医院。

样本

植入前诊断后的首批16例妊娠(12例单胎和4例双胎)。

结果

3例单胎妊娠在孕早期流产。在其余妊娠中,2例未进行产前诊断,6例X连锁疾病通过超声确定胎儿性别,其余5例进行了绒毛取样。所有单胎妊娠的产前过程均顺利,婴儿出生体重和阿氏评分均正常。双胎妊娠出现了产科并发症,但这些并发症并不罕见。

结论

15名健康婴儿出生,但在可预见的未来,应对植入前诊断的妊娠进行密切随访。

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