PREIMPLANTASYON GENETIK TANI: MODASI GE

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PREIMPLANTASYON GENETIK TANI MODASI GEÇTI MI?

• PROF. DR. MUHTEREM BAHÇE
• GATA TIBBI GENETIK BD

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PREIMPLANTASYON GENETIK TANI

• 1. TEK GEN HASTALIKLAR
• (HLA GENOTIPLEMESI, TALASSEMI VS)
• 2. YAPISAL KROMOZOMAL DÜZENSIZLIKLER (KROMOZOMAL
  TRANSLOKASYONLAR VS)
• 3. SAYISAL KROMOZOMAL DÜZENSIZLIKLER
  (ANÖPLOIDILER)(PGS)

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RANDOMIZE ÇALISMALAR
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
Dec19(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
2007357917. 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.
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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 Dec23(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.
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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
Dec17(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 Dec23(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.
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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
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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.
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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.
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Yeterli gebelik artis orani saglamiyorSonuçlarin
dogrulugu tartisilirYeterli bilimsel veri
eksikligi varBiyopsi islemi embriyolara zarar
veriyor Ticari kaygilar ön planda
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Fertility and Sterility Volume 80, Issue 3 ,
September 2003, Pages 508-516
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German IVF Registry Rate of
miscarriages per clinical pregnancy
()IVF (75024) 22.7ICSI (70335) 23.0CPE (2702
1) 27.4
Fertility and Sterility Volume 80, Issue 3 ,
September 2003, Pages 508-516
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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 3 32
46,XX 4 35 47,XX,10 (!!) 5 33
45,X6 36 47,XX,14 (!!) 7 37 45,X8 40 4
7,XX,12 (!!) 9 38 47,XX,14 (!!)
10 29 46,XX,-14,t(13q14q)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,XY18 28 46,XY 19 37 47,XX,16
20 37 47,XY,3 (!!) 21 36 47,XY,1622 33
47,XY,8 (!!) 23 35 47,XX,16
73.91
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