preimplantation genetic testing
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Shahryar K. Kavoussi ◽  
Shu-Hung Chen ◽  
John David Wininger ◽  
Arnav Lal ◽  
William E. Roudebush ◽  

Abstract Purpose The aim of this study was to determine if pregnancy-associated plasma protein-A (PAPP-A), typically measured in maternal serum and a potential predictor of adverse maternal and fetal outcomes such as spontaneous miscarriage, pre-eclampsia, and stillbirth, is expressed in blastocoel fluid–conditioned media (BFCM) at the embryonic blastocyst stage. Design This is an in vitro study. Methods BFCM samples from trophectoderm-tested euploid blastocysts (n = 80) from in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) patients were analyzed for PAPP-A mRNA. BFCM was obtained from blastocyst stage embryos in 20 uL drops. Blastocysts underwent trophectoderm biopsy for preimplantation genetic testing for aneuploidy prior to blastocyst vitrification and BFCM collection for snap freezing. cfDNA was synthesized using BFCM collected from 80 individual euploid blastocysts. Next, real-time qPCR was performed to detect expression of PAPP-A with GAPDH for normalization of expression in each sample. Results PAPP-A mRNA was detected in 45 of 80 BFCM samples (56.3%), with varying levels of expression across samples. Conclusion Our study demonstrates the expression of PAPP-A in BFCM. To our knowledge, this is the first study to report detection of PAPP-A mRNA in BFCM. Further studies are required and underway to investigate a greater number of BFCM samples as well as the possible correlation of PAPP-A expression with pregnancy outcomes of transferred euploid blastocysts. If found to predict IVF and obstetric outcomes, PAPP-A may provide additional information along with embryonic euploidy for the selection of the optimal blastocyst for embryo transfer.

2022 ◽  
Vol 19 (3) ◽  
pp. 9-13
Văn Hải Trương ◽  
Thị Minh Phượng Nguyễn ◽  
Thị Minh Tâm Lưu ◽  
Thị Kim Anh Phan

Hiện tượng lệch bội nhiễm sắc thể ở phôi là một trong những nguyên nhân chính gây thất bại làm tổ, sẩy thai liên tiếp, làm giảm hiệu quả điều trị thụ tinh trong ống nghiệm. Xét nghiệm di truyền phôi tiền làm tổ phát hiện phôi lệch bội (Preimplantation Genetic Testing for Aneuploidy) giúp sàng lọc, phát hiện các phôi mang bất thường về số lượng nhiễm sắc thể bằng cách thu nhận 5-10 tế bào lá nuôi phôi (Trophectoderm). Tuy nhiên, việc sinh thiết tế bào mang tính xâm lấn và yêu cầu kỹ năng thực hiện của chuyên viên phôi học để bảo đảm tiềm năng của phôi. Ngoài ra, lượng phôi bào chỉ được thu nhận từ lá nuôi phôi không đại diện cho thông tin di truyền của toàn bộ phôi. Trong những năm gần đây, một hướng tiếp cận mới là xét nghiệm di truyền phôi tiền làm tổ không xâm lấn đã được nghiên cứu mạnh mẽ nhằm thay thế, khắc phục hạn chế của phương thức truyền thống, sử dụng đối tượng nghiên cứu mới là DNA tự do. Trong quá trình nuôi cấy in-vitro, DNA tự do đã được chứng minh có nguồn gốc từ quá trình chết theo chu trình (apoptosis) hoặc sửa sai của cả lớp tế bào lá nuôi và khối tế bào bên trong (Inner Cell Mas) của phôi, được tiết vào trong dịch khoang phôi hay môi trường nuôi cấy. Các nghiên cứu ứng dụng thu nhận, khuếch đại, phân tích nhiễm sắc thể từ nguồn DNA tự do bước đầu ghi nhận kết quả khả quan, tuy nhiên vẫn cần nhiều cải thiện và phân tích đánh giá sâu trong tương lai.

2022 ◽  
Vol 6 (2) ◽  
pp. 01-05
Svetlana Rechitsky ◽  
Tatiana Pakhalchuk ◽  
Maria Prokhorovich ◽  
Anver Kuliev

Inherited cancer predisposition is presently one of the major indications for preimplantation genetic testing (PGT), providing an option for couplers at risk to avoid the birth of an offspring with predisposition to cancer. We present here our experience of 35 of 874 PGT cycles for cancer, in which in addition to BRCA1/2 the couples were at risk to another genetic conditions as well, for which PGT was performed together with PGT for breast cancer. This resulted in in birth of 20 mutation free children with not only unaffected for the tested genetic condition, but also without risk of developing cancer. This is a part of our overall PGT series of 6,204 PGT cases for monogenic disorders (PGT-M), with 2,517 resulting births, free of genetic disorder. The accumulated experience, demonstrates considerable progress in using PGT for avoiding the birth of affected children together with avoiding predisposition to cancer.

2022 ◽  
Vol 12 ◽  
Marie-Anne Morren ◽  
Eric Legius ◽  
Fabienne Giuliano ◽  
Smail Hadj-Rabia ◽  
Daniel Hohl ◽  

Genodermatoses are rare inherited skin diseases that frequently affect other organs. They often have marked effects on wellbeing and may cause early death. Progress in molecular genetics and translational research has unravelled many underlying pathological mechanisms, and in several disorders with high unmet need, has opened the way for the introduction of innovative treatments. One approach is to intervene where cell-signaling pathways are dysregulated, in the case of overactive pathways by the use of selective inhibitors, or when the activity of an essential factor is decreased by augmenting a molecular component to correct disequilibrium in the pathway. Where inflammatory reactions have been induced by a genetically altered protein, another possible approach is to suppress the inflammation directly. Depending on the nature of the genodermatosis, the implicated protein or even on the particular mutation, to correct the consequences or the genetic defect, may require a highly personalised stratagem. Repurposed drugs, can be used to bring about a “read through” strategy especially where the genetic defect induces premature termination codons. Sometimes the defective protein can be replaced by a normal functioning one. Cell therapies with allogeneic normal keratinocytes or fibroblasts may restore the integrity of diseased skin and allogeneic bone marrow or mesenchymal cells may additionally rescue other affected organs. Genetic engineering is expanding rapidly. The insertion of a normal functioning gene into cells of the recipient is since long explored. More recently, genome editing, allows reframing, insertion or deletion of exons or disruption of aberrantly functioning genes. There are now several examples where these stratagems are being explored in the (pre)clinical phase of therapeutic trial programmes. Another stratagem, designed to reduce the severity of a given disease involves the use of RNAi to attenuate expression of a harmful protein by decreasing abundance of the cognate transcript. Most of these strategies are short-lasting and will thus require intermittent life-long administration. In contrast, insertion of healthy copies of the relevant gene or editing the disease locus in the genome to correct harmful mutations in stem cells is more likely to induce a permanent cure. Here we discuss the potential advantages and drawbacks of applying these technologies in patients with these genetic conditions. Given the severity of many genodermatoses, prevention of transmission to future generations remains an important goal including offering reproductive choices, such as preimplantation genetic testing, which can allow selection of an unaffected embryo for transfer to the uterus.

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