Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis.

IF 1.6 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Organogenesis Pub Date : 2017-10-02 Epub Date: 2017-09-21 DOI:10.1080/15476278.2017.1358842

Ahter Tanay Tayyar, Ahmet Tayyar, Ahmet Eser, Çetin Kılıçcı, İlter Yenidede, Selçuk Selçuk

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Abstract

Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.

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通过ICSI和PGD获得的双胎妊娠的上肢偏瘫及其预后。

特纳氏综合征(TS)被描述为X染色体的全部或部分缺失，大约有1/2200的活产女性发生。通常，由于反复流产、多次体外受精(IVF)失败和畸形婴儿史，马赛克患者通过核型分析被诊断。本病例报告的目的是表明即使选择正常核型胚胎也可能导致嵌合TS的异常。一位32岁的患者在ICSI-PGD后接受IVF，诊断为45X/46XX核型。在12周的扫描中，其中一个胎儿有一只手臂上肢偏瘫，并且对该胎儿使用了杀胎剂。患者在妊娠第38周产下一名2980克的健康女婴。在马赛克TS妊娠中(即使是通过ICSI-PGD获得的妊娠)，胎儿异常的风险很高。因此，这些孕妇需要仔细的产前扫描。

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来源期刊

Organogenesis BIOCHEMISTRY & MOLECULAR BIOLOGY-DEVELOPMENTAL BIOLOGY

CiteScore

4.10

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Organogenesis is a peer-reviewed journal, available in print and online, that publishes significant advances on all aspects of organ development. The journal covers organogenesis in all multi-cellular organisms and also includes research into tissue engineering, artificial organs and organ substitutes. The overriding criteria for publication in Organogenesis are originality, scientific merit and general interest. The audience of the journal consists primarily of researchers and advanced students of anatomy, developmental biology and tissue engineering. The emphasis of the journal is on experimental papers (full-length and brief communications), but it will also publish reviews, hypotheses and commentaries. The Editors encourage the submission of addenda, which are essentially auto-commentaries on significant research recently published elsewhere with additional insights, new interpretations or speculations on a relevant topic. If you have interesting data or an original hypothesis about organ development or artificial organs, please send a pre-submission inquiry to the Editor-in-Chief. You will normally receive a reply within days. All manuscripts will be subjected to peer review, and accepted manuscripts will be posted to the electronic site of the journal immediately and will appear in print at the earliest opportunity thereafter.