en تولد یک نوزاد بدون بیماری آتروفی عضلانی نخاعی از والدین در معرض خطر ژنتیکی پس از غربالگری ژنتیکی قبل از لانه گزینی: گزارش مورد Reproductive Genetics Case Report Case Report <div style="text-align: justify;"><span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">مقدمه:</span></span></b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:"> آتروفی عضلانی نخاعی (</span></span><span dir="LTR" style="font-size:10.0pt">SMA</span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">) با حذف هموزیگوت ژن بقای نورون حرکتی-1 مشخص می</span></span><span dir="LTR" style="font-size:11.0pt"><span arial="" style="font-family:">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">شود. آزمایش ژنتیکی قبل از لانه</span></span><span dir="LTR" style="font-size:11.0pt"><span arial="" style="font-family:">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">گزینی برای بیماری</span></span><span dir="LTR" style="font-size:11.0pt"><span arial="" style="font-family:">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">های تک</span></span><span dir="LTR" style="font-size:11.0pt"><span arial="" style="font-family:">&shy;</span></span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">ژنی از طریق برنامه لقاح آزمایشگاهی برای ارائه یک روش تشخیصی ژنتیکی قابل اعتماد برای </span></span><span dir="LTR" style="font-size:10.0pt">SMA</span> <span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">طراحی شده است.</span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">مورد:</span></span></b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:"> زوجی که به عنوان ناقل </span></span><span dir="LTR" style="font-size:10.0pt">SMA</span> <span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">تأیید شده بودند، به کلینیک </span></span><span dir="LTR" style="font-size:10.0pt">Morula IVF</span><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">، جاکارتا، اندونزی مراجعه کردند تا از کمک متخصص لقاح آزمایشگاهی در رابطه با آزمایش ژنتیکی قبل از لانه&shy;گزینی برای </span></span><span dir="LTR" style="font-size:10.0pt">SMA</span> <span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">استفاده نمایند. با استفاده از واکنش زنجیره‌ای پلیمراز و تکنیک پلی‌مورفیسم طول قطعه حاصل از برش آنزیم محدودالاثر، ما با موفقیت جنین‌های سالمی را که در آنها به طور طبیعی اگزون 7-8 ژن بقای نورون حرکتی-1 و اگزون 7-8 ژن بقای نورون حرکتی-2 وجود داشت، غربال کردیم. جنین&shy;های سالم منجمد و متعاقباً منتقل شد و یک نوزاد دختر سالم بدون وجود حذف شناخته شده ژن بقای نورون حرکتی-1 به دنیا آمد.</span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">نتیجه &shy;گیری:</span></span></b><span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:"> این مورد موفق غربالگری قبل از لانه‌گزینی جنین می‌تواند به طور بالقوه به زوج‌های در معرض خطر ژنتیکی نگران باردار شدن فرزندی با اختلالات تک&shy;ژنی مانند </span></span><span dir="LTR" style="font-size:10.0pt">SMA</span> <span lang="FA" style="font-size:11.0pt"><span b="" mitra="" style="font-family:">کمک کند.</span></span><span dir="LTR" style="font-size:11.0pt"><span style="font-family:"Arial","sans-serif""></span></span></span></span></span></span></span><br> <span style="font-size:12pt"><span style="text-justify:inter-ideograph"><span style="direction:rtl"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><span dir="LTR" style="font-size:11.0pt"><span style="font-family:"Arial","sans-serif""></span></span></span></span></span></span></span></div> <h1 style="text-align: justify;"><span style="font-size:11pt"><span style="line-height:normal"><span sans-serif="" style="font-family:Arial,"><b><span lang="EN-ID" style="font-size:12.0pt"><span style="background:white"><span new="" roman="" style="font-family:" times="">Background:</span></span></span></b><span lang="EN-ID" style="font-size:12.0pt"><span style="background:white"><span new="" roman="" style="font-family:" times=""> Spinal muscular atrophy (SMA) is characterized by the homozygous deletion of the survival motor neuron-1 gene. Pre-implantation genetic testing for monogenic diseases through <a name="_Hlk98508778">in-vitro<i> </i>fertilization program</a> was developed to provide a reliable genetic diagnostic method for SMA. </span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span sans-serif="" style="font-family:Arial,"><b><span lang="EN-ID" style="font-size:12.0pt"><span style="background:white"><span new="" roman="" style="font-family:" times="">Case presentation:</span></span></span></b> <span lang="EN-ID" style="font-size:12.0pt"><span new="" roman="" style="font-family:" times="">The couple who was confirmed as carriers of SMA visited the Morula IVF Clinic, Jakarta, Indenesia seeking for an in-vitro fertilization expert opinion in relation to the <span style="background:white">pre-implantation genetic testing for </span>SMA.<span style="background:white"> Utilizing polymerase chain reaction-restriction fragment length polymorphism, we have successfully screened for unaffected embryos that were characterized by a normal presence of the survival motor neuron-1 exon 7-8 and survival motor neuron-2 exon 7-8. The frozen embryo was subsequently transferred and a healthy unaffected female baby was born with undetected deletion of the survival motor neuron-1 gene.</span> </span></span></span></span></span><br> <span style="font-size:11pt"><span style="line-height:normal"><span sans-serif="" style="font-family:Arial,"><b><span lang="EN-ID" style="font-size:12.0pt"><span style="background:white"><span new="" roman="" style="font-family:" times="">Conclusion:</span></span></span></b><span lang="EN-ID" style="font-size:12.0pt"><span style="background:white"><span new="" roman="" style="font-family:" times=""> This successful embryo pre-implantation screening case could potentially accommodate the demands of genetically at-risk couples who are apprehensive about conceiving a child who might inherit monogenic disorders such as SMA. </span></span></span><span style="font-size:10.0pt"><span style="font-family:"Times New Roman","serif""></span></span></span></span></span><br> &nbsp;</h1> لقاح آزمایشگاهی, آتروفی عضلانی نخاعی, تشخیص قبل از لانه­ گزینی. In-vitro fertilization, Spinal muscular atrophy, Preimplantation diagnosis. 779 786 http://ijrm.ir/browse.php?a_code=A-10-1821-1&slc_lang=en&sid=1 Arie Adrainus Polim polim.arie@irsi-bunda.org 0000-0001-5876-4968 Yes Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Obstetrics and Gynecology, School of Medicine and Health Sciences, Atmajaya Catholic University of Indonesia, Jakarta, Indonesia. Nining Handayani nining.handayani@irsi-bunda.org, 0000-0001-8123-1203 No Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Dian Kesumapramudya Nurputra dian.k.nurputra@ugm.ac.id 0000-0001-6262-3586 No Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, D.I.Y Jogjakarta, Indonesia. Graduate Program of Clinical Medicine Science, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, D.I.Y Jogjakarta, Indonesia. Anggia Melanie Lubis anggiamelanie@yahoo.com 0000-0003-3467-8306 No Morula IVF Jakarta Clinic, Jakarta, Indonesia. Batara Sirait batarasirait@gmail.com 0000-0001-9073-809X No Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Obstetrics and Gynaecology, Faculty of Medicine Universitas Kristen Indonesia, Jakarta, Indonesia. Dennis Jacobus dennisjacobus@diagnos.co.id 0000-0001-7954-2627 No Diagnos Genomics, Jakarta, Indonesia. Arief Boediono arief.boediono@irsi-bunda.org 0000-0003-1535-703X No Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Anatomy, Physiology and Pharmacology, IPB University, Bogor, Indonesia. Ivan Sini ivansini@irsi-bunda.org 0000-0002-5364-0381 No Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia.