Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

Abstract Background: 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 in-vitrofertilization program was developed to provide a reliable genetic diagnostic method for SMA. Cas...

Full description

Bibliographic Details
Main Authors:	Arie Adrainus Polim, Nining Handayani, Dian Kesumapramudya Nurputra, Anggia Melanie Lubis, Batara Sirait, Dennis Jakobus, Arief Boediono, Ivan Sini
Format:	Article
Language:	English
Published:	Shahid Sadoughi University of Medical Sciences 2022-09-01
Series:	International Journal of Reproductive BioMedicine
Subjects:	in-vitro fertilization, spinal muscular atrophy, preimplantation diagnosis.
Online Access:	https://doi.org/10.18502/ijrm.v20i9.12068

Similar Items

Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report
by: Polim, Arie Adrainus, et al.
Published: (2022)

Association between estradiol levels and clinical outcomes of IVF cycles with single blastocyst embryo transfer
by: Arie A Polim, et al.
Published: (2021-01-01)

Machine Learning Approach to Predict Clinical Pregnancy Potential in Women Undergoing IVF Program
by: Nining Handayani, et al.
Published: (2022-06-01)

The Utilization of Oocyte Cryopreservation Among Indonesia Women
by: Batara Sirait, et al.
Published: (2022-12-01)

Embryo ploidy status classification through computer-assisted morphology assessmentAJOG MFM at a Glance
by: Gunawan Bondan Danardono, SKom, BEng, et al.
Published: (2023-08-01)

Minimally Invasive Method of Measuring Anti-Müllerian Hormone Level in Dried Blood Spots of Indonesian Infertile Population
by: Ivan Sini, et al.
Published: (2024-03-01)

Blastocyst elective single embryo transfer improves perinatal outcomes among women undergoing assisted reproductive technology in Indonesia
by: Ivan Sini, et al.
Published: (2020-01-01)

The current status of preimplantation genetic screening
by: Carolina Ortega, et al.
Published: (2010-04-01)

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency
by: Wen-Bin He, et al.
Published: (2018-01-01)

Comparison of Highly Purified HMG versus Recombinant FSH with Antagonist Protocol in Poor Responder Patients
by: Arie A. Polim, et al.
Published: (2020-03-01)

Pre-implantation genetic diagnosis and pre-implantation genetic screening: two years experience at a single center
by: Se Yeon Won, et al.
Published: (2018-01-01)

Preimplantation genetic diagnosis
by: Karin Writzl
Published: (2013-02-01)

What should we focus on before preimplantation genetic diagnosis/screening?
by: Zhong Zheng, et al.
Published: (2018-01-01)

Application of preimplantation genetic diagnosis in equine blastocysts
by: Grady ST, et al.
Published: (2016-08-01)

The impact of preimplantation genetic diagnosis on human embryos
by: García-Ferreyra J.
Published: (2016-12-01)

The impact of parental unaffected allele combination on the diagnostic outcome in the preimplantation genetic testing for myotonic dystrophy type 1 in Japanese ancestry
by: Hiroshi Senba, et al.
Published: (2020-07-01)

Outcome of Couples with Reciprocal Translocation Carrier Undergoing the First Preimplantation Genetic Testing Cycles
by: Cai-Xia Lei, et al.
Published: (2018-01-01)

Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study
by: Ilana Weizel, et al.
Published: (2024-01-01)

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening
by: Chun-Kai Chen, et al.
Published: (2014-06-01)

Study on preimplantation genetic diagnosis and follow-up for Duchenne muscular dystrophy
by: Juan YANG, et al.
Published: (2015-06-01)

Preimplantation genetic testing: Its evolution, where are we today?
by: Firuza Rajesh Parikh, et al.
Published: (2018-01-01)

Preimplantational genetic diagnosis: an actual alternative with future implications
by: Claudia Juliana Serrano Serrano
Published: (2005-08-01)

Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report
by: Krzysztof Lukaszuk, et al.
Published: (2015-07-01)

Factors Associated with the Outcomes of Preimplantation Genetic Testing in Assisted Reproduction
by: WANG Boya, HE Yingming, XUE Yinshuang, XIANG Huifen
Published: (2023-01-01)

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
by: Setyaningrum, Cempaka Thursina Srie, et al.
Published: (2022)

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series
by: Cempaka Thursina Srie Setyaningrum, et al.
Published: (2022-11-01)

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
by: Shuo Zhang, et al.
Published: (2019-03-01)

An overview of the current and emerging platforms for preimplantation genetic testing for aneuploidies (PGT-A) in in vitro fertilization programs
by: Hsin-Fu Chen, et al.
Published: (2020-07-01)

Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center
by: Thi Minh Phuong Bui, et al.
Published: (2022-11-01)

Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review
by: Firuza R Parikh, et al.
Published: (2021-01-01)

Preimplantation genetic testing for familial amyloid polyneuropathy
by: Mário Sousa
Published: (2022-11-01)

Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?
by: Levent Sahin, et al.
Published: (2014-10-01)

New cellular imaging of oocytes and preimplantation embryos using Lumitein™: Evaluation of oocyte quality and new information on protein dynamics within the perivitelline space during the one-cell oocyte stage in mice
by: Hiroka OKAJI, et al.
Published: (2020-01-01)

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature
by: Roberta Giuliano, et al.
Published: (2023-11-01)

Challenges experienced by genetic counselors while they provided counseling about mosaic embryos
by: Olivia M. Moran, M.Sc., et al.
Published: (2023-12-01)

Preimplantation genetic testing for aneuploidy: challenges in clinical practice
by: Hui Yang, et al.
Published: (2022-12-01)

The role of zygotic genome activation in genetic−related reproductive medicine: Technological perspective, religious and bioethical concerns, challenges and benefits
by: Nameer Hashim Qasim, et al.
Published: (2024-03-01)

Preimplantation Genetic Testing for Monogenic Disorders
by: Martine De Rycke, et al.
Published: (2020-07-01)

The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries
by: Shaza D. Malik, et al.
Published: (2022-01-01)

Preimplantation genetic diagnosis for cystic fibrosis: a case report
by: Maria Cristina Santoro Biazotti, et al.