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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)
• 3. SAYISAL KROMOZOMAL DÜZENSİZLİKLER
(ANÖPLOİDİLER)(PGS)
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.
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.
*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.
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
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.
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.”
Yeterli gebelik artış oranı sağlamıyor
Sonuçların doğruluğu tartışılır
Yeterli bilimsel veri eksikliği var
Biyopsi işlemi embriyolara zarar veriyor
Ticari kaygılar ön planda
Fertility and Sterility
Volume 80, Issue 3 ,
September 2003, Pages 508-516
German IVF Registry
Rate of miscarriages
per clinical pregnancy
(%)
IVF (75024) 22.7
ICSI (70335) 23.0
CPE (27021) 27.4
Fertility and Sterility
Volume 80, Issue 3 , September 2003, Pages 508-516
Summary of embryoscopic and cytogenetic findings identified in 23 patients with missed
abortions in pregnancy by IVF.
Case Maternal age (y) Karyotype
1 37 46,XY
2 38 47,XX,+18
3 32 46,XX
4 35 47,XX,+10 (!!)
5 33 45,X
6 36 47,XX,+14 (!!)
7 37 45,X
8 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,XX
14 35 47,XY,+15
15 30 46,XY
16 42 47,XY,+13 %73.91
17 40 46,XY
18 28 46,XY
19 37 47,XX,+16
20 37 47,XY,+3 (!!)
21 36 47,XY,+16
22 33 47,XY,+8 (!!)
23 35 47,XX,+16
