Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group.
OBJECTIVE
To perform preimplantation diagnosis of common aneuploidies by polar body analysis and fluorescent in situ hybridization technique using probes specific for chromosomes X, 18, and 13/21.


METHODS
The first and/or second polar bodies were removed and studied by fluorescent in situ hybridization to detect and avoid fertilization and transfer of oocytes with common aneuploidies.


METHODS
The Reproductive Genetics Institute's IVF program at Illinois Masonic Medical Center.


METHODS
One hundred ninety-three couples of advanced maternal age (34 to 46 years) under-going IVF treatment volunteered to be part of a clinical trial on preimplantation polar body diagnosis of common aneuploidies.


METHODS
Using micromanipulation procedures, the first and second polar bodies were removed after their extrusion from the oocytes.


METHODS
Fluorescent in situ hybridization signals specific for chromosomes X, 18, and 13/21.


RESULTS
In 235 IVF cycles performed in 193 couples, 1,293 oocytes were biopsied and subjected to fluorescent in situ hybridization analysis, with fluorescent in situ hybridization results available in 993 oocytes (76.8%). Of 993 oocytes with fluorescent in situ hybridization results, 665 (67%) were predicted to be normal based on the chromosomes studied; 460 embryos resulting from these oocytes were transferred in 187 treatment cycles, resulting in 12 births of healthy children and 18 ongoing pregnancies after confirmation of the polar body diagnosis by chorionic villus sampling or amniocentesis.


CONCLUSIONS
Polar body fluorescent in situ hybridization analysis may be used for preimplantation diagnosis of common aneuploidies in IVF patients of advanced maternal age.
Verlinsky
Y
Y
Reproductive Genetics Institute (RGI), Illinois Masonic Medical Center, Chicago 60657, USA.
Cieslak
J
J
Ivakhnenko
V
V
Lifchez
A
A
Strom
C
C
Kuliev
A
A
D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D010064:Embryo Implantation; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008423:Maternal Age; D008846:Micromanipulation; D008875:Middle Aged; D009865:Oocytes / Q000648:ultrastructure*; D011247:Pregnancy; D011256:Pregnancy Outcome; D018873:Pregnancy Rate; D018566:Pregnancy, High-Risk; D014960:X Chromosome