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PREİMPLANTASYON GENETİK TANI: MODASI GEÇTİ Mİ?

PREİMPLANTASYON GENETİK TANI: MODASI GEÇTİ Mİ?. PROF. DR. MUHTEREM BAHÇE GATA TIBBİ GENETİK BD. PREİMPLANTASYON GENETİK TANI:. 1. TEK GEN HASTALIKLAR (HLA GENOTİPLEMESİ, TALASSEMİ VS) 2. YAPISAL KROMOZOMAL DÜZENSİZLİKLER (KROMOZOMAL TRANSLOKASYONLAR VS)

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PREİMPLANTASYON GENETİK TANI: MODASI GEÇTİ Mİ?

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  1. PREİMPLANTASYON GENETİK TANI: MODASI GEÇTİ Mİ? PROF. DR. MUHTEREM BAHÇE GATA TIBBİ GENETİK BD

  2. PREİMPLANTASYON GENETİK TANI: • 1. TEK GEN HASTALIKLAR (HLA GENOTİPLEMESİ, TALASSEMİ VS) • 2. YAPISAL KROMOZOMAL DÜZENSİZLİKLER (KROMOZOMAL TRANSLOKASYONLAR VS) • 3. SAYISAL KROMOZOMAL DÜZENSİZLİKLER (ANÖPLOİDİLER)(PGS)

  3. RANDOMİZE ÇALIŞMALAR Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, Devroey P, Liebaers I, Van Steirteghem A. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004 Dec;19(12):2849-58 This RCT provides no arguments in favour of PGD-AS for improving clinical outcome per initiated cycle in patients with AMA when there are no restrictions in the number of embryos to be transferred. Mastenbroek S In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;357:9–17. Preimplantation genetic screening did not increase but instead significantly reduced the rates of ongoing pregnancies and live births after IVF in women of advanced maternal age.

  4. Mastenbroek S, Scriven P, Twisk M, Viville S, Van der Veen F, Repping S.What next for preimplantation genetic screening? More randomized controlled trials needed? Hum Reprod. 2008 Dec;23(12):2626-8. The recent debate on preimplantation genetic screening (PGS) has raised questions about its routine use in clinical practice. It has been suggested that the most effective way to resolve the debate about the usefulness of PGS is to perform more well-designed and well-executed randomized controlled trials (RCTs). However, in view of the lack of evidence for the effectiveness of PGS and the accumulating evidence for its harmfulness, it is our opinion that it is unethical to perform additional RCTs for the indication advanced maternal age using cleavage stage biopsy.

  5. *Blockeel C, Schutyser V, De Vos A, Verpoest W, De Vos M, Staessen C, Haentjens P, Van der Elst J, Devroey P.Prospectively randomized controlled trial of PGS in IVF/ICSI patients with poor implantation. Reprod Biomed Online. 2008 Dec;17(6):848-54.It can be concluded that preimplantation genetic screening does not increase the implantation rates after IVF-intracytoplasmic sperm injection in women with repeated implantation failure. * Staessen C, Verpoest W, Donoso P, Haentjens P, Van der Elst J, Liebaers I, Devroey P. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod. 2008 Dec;23(12):2818-25. Epub 2008 Oct 17. The absence of a beneficial treatment effect in this randomized clinical trial provides no arguments in favour of PGS to improve live birth delivery rate following single-embryo transfer in women under the age 36.

  6. Between April 27, 2006 and May 31, 2006, the Genetics and Public Policy Center at Johns Hopkins University conducted an online survey of directors of all known US IVF clinics, or their designees. Online survey included 415 US assisted reproductive technology clinics. The survey had a valid response rate of 45% or 186 clinics. Genetics IN Medicine

  7. Indications for PGS among clinics that offer it Indication Percent of IVF Percent of PGD clinics (clinics clinics offering PGS offering PGD) offering for indication PGS for indication (n 186 ) (n 137) Advanced maternal age 56 76 Repeated IVF failure 56 77 Repeated miscarriage 66 90 Nearly three-quarters (n 137) of the 186 qualified IVF clinics provided PGD for at least one indication. Among these 137 PGD clinics, 93% (n 127) provided PGS. These clinics reported performing a total of 2197 PGS cycles in 2005, which accounted for two-thirds of all PGD cycles in 2005.

  8. The overwhelming majority (85%) of directors in clinics that provided PGS agreed that more data are needed to determine whether and to whom it should be offered. Most (89%) directors of PGS clinics did not believe PGS should be offered to all or most IVF patients. However, 52% believed that PGS will be offered to all or most IVF patients in the next 10 to 15 years. Nearly half (47%) of the directors who offered PGS agreed with the statement that “the push to offer PGD for aneuploidy screening is more about market pressure than medical evidence.”

  9. Yeterli gebelik artış oranı sağlamıyorSonuçların doğruluğu tartışılırYeterli bilimsel veri eksikliği varBiyopsi işlemi embriyolara zarar veriyor Ticari kaygılar ön planda

  10. Fertility and SterilityVolume 80, Issue 3 , September 2003, Pages 508-516

  11. German IVF Registry Rate of miscarriages per clinical pregnancy (%)IVF (75024) 22.7ICSI (70335) 23.0CPE (27021) 27.4 Fertility and SterilityVolume 80, Issue 3 , September 2003, Pages 508-516

  12. Summary of embryoscopic and cytogenetic findings identified in 23 patients with missed abortions in pregnancy by IVF.Case Maternal age (y) Karyotype1 37 46,XY 2 38 47,XX,+18 332 46,XX 4 35 47,XX,+10 (!!)533 45,X6 36 47,XX,+14(!!)737 45,X8 40 47,XX,+12 (!!)9 38 47,XX,+14 (!!)10 29 46,XX,−14,+t(13q;14q)11 41 47,XY,+9 (!!)12 35 47,XY,+11 (!!)13 32 46,XX14 35 47,XY,+15 15 30 46,XY16 42 47,XY,+13 17 40 46,XY1828 46,XY 1937 47,XX,+16 2037 47,XY,+3 (!!)2136 47,XY,+1622 33 47,XY,+8 (!!)2335 47,XX,+16 %73.91

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