1 PGS (PGS) IVF PGS, PGS,, PGS 2, PGS : (PGS); PGS; ; : R321.1 : A : X(2015) PGS 1995, 1 , (ART)

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1 35 2 Vol.35 No Feb Reproduction & Contraception doi: /j.issn X randc_journal@163.com ( ) ( ) ( ) () IVF 2 : () : R321.1 : A : X(2015) [1] (ART) (pre-implantation genetic screening ) 20 : 2007 Masternbroek (ASRM) (British Fertility Society) (ESHRE) [2-5] I 1 DNA [10] (Pb1) Pb2 [11] (Pb) [6-9] : Tel: steven3019@hotmail.com Pb1 Pb2 36% / 40% 114

2 [13] [12] 2 (fluorescence in situ hybridization FISH) (quantitative polymerase chain reaction q-pcr) 2 [414-16] (array-comparative genome hybridization array-cgh) (single nucleotide polymorphism microarray SNP-microarray) (next-generation sequencing NGS) 2.1 (whole genome amplification WGA) DNA pg μg WGA PCR WGA PCR(DOP-PCR) (PEP) PCR WGA (MDA) (pwga) MDA 30 Phi29DNA DNA ( ) [17] DNA DNA 2 array-cgh SNP-microarray array-cgh ( WGA ) DNA [2021] SNP DNA SNP SNP-array SNP 2 SNP-array SNP [2021] NGS DNA DNA Roche 454 Illumina Solexa ABI SOLiD [22-24] Ion Torrent Life Technologies Xie [1819] (multiple annealing and looping-based amplification cycle MALBAC) (IS-FET) 115

3 2010 [2526] [27] array-cgh Treff [28] Ion Torrent 100% MALBAC NGS [29] array-cgh MALBAC 3 [30] 1 (Array-CGH) (h) 12~24 WGA 16~72 (SNP-microarray) (NGS) 15 60% 68% (50% 56%) ART [3435] Munné [36] Mastenbroek [2] [31] (54%) (68%) ( ) (ICSI) [33] [32] 2 116

4 [7] 1 : [39] acgh- Fiorention NGS array-cgh [40] NGS 100% 99.98% NGS 4 Forman 10 (-SET) 15 IVF-ET( 2 [37] ) 2 -SET IVF d IVF SET IVF : 6.1 (intention-totreat analysis ITT) ITT 5~ Mastenbroek 2007 [38] IVF Scott [6] IVF-ET 2 2 IVF Forman [41] 2 : 117

5 [4243] IVF DNA [4445] [46] (FISH q-pcr) IVF ITT : [1] Verlinsky Y Cieslak J Freidine M et al. Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Mol Hum Reprod (5): [2] Mastenbroek S Twisk M van Echten-Arends J et al. In vitro fertilization with preimplantation genetic screening. New Engl J Med (1):9-17. [3] Practice Committee of Society for Assisted Reproductive Technology Practice Committee of American Society for Reproductive Medicine. Preimplantation genetic testing: A practice committee opinion. Fertil Steril (5 Suppl): S [4] Hardarson T Hanson C Lundin K et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: A randomized controlled trial. Hum Reprod (12): [5] Harton G De Rycke M Fiorentino F et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod (1): [6] Scott Jr RT Upham KM Forman EJ et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril (3): [7] Forman EJ Hong KH Ferry KM et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril (1):100-7.e1. [8] Yang Z Liu J Collins GS et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: Results from a randomized pilot study. Mol Cytogenet (1):1-8. [9] Gleicher N Barad DH. A review of and commentary on the ongoing second clinical introduction of preimplantation genetic screening () to routine IVF practice. J Assist Reprod Genet (11): [10] Scott KL Hong KH Scott Jr RT. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril (3): [11] Capalbo A Bono S Spizzichino L et al. Sequential comprehensive chromosome analysis on polar bodies blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development. Hum Reprod (2): [12] Johnson D Gemelos G Baner J et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod (4): [13] Scott Jr RT Upham KM Forman EJ et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril (3): [14] Staessen C Verpoest W Donoso P et al. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod (12): [15] Debrock S Melotte C Spiessens C et al. Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: A prospective randomized trial. Fertil Steril (2): [16] Blockeel C Schutyser V De Vos A et al. Prospectively randomized controlled trial of in IVF/ICSI patients with poor implantation. Reprod Biomed Online (6): [17] Spits C Le Caignec C De Rycke M et al. Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat (5): [18] Lu S Zong C Fan W et al. Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science (6114): [19] Zong C Lu S Chapman AR et al. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science (6114): [20] Harper JC Harton G. The use of arrays in preimplantation 118

6 genetic diagnosis and screening. Fertil Steril (4): [21] Alfarawati S Fragouli E Colls P et al. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod (6): [22] Droege M Hill B. The genome sequencer flx system longer reads more applications straight forward bioinformatics and more complete data sets. J Biotechnol (1-2):3-10. [23] Imelfort M Duran C Batley J et al. Discovering genetic polymorphisms in next-generation sequencing data. Plant Biotechnol J (4): [24] Mardis ER. The impact of next-generation sequencing technology on genetics. Trends Genet (3): [25] Flusberg BA Webster DR Lee JH et al. Direct detection of DNA methylation during single-molecule real-time sequencing. Nat Methods (6): [26] Ivanov AP Instuli E McGilvery CM et al. DNA tunneling detector embedded in a nanopore. Nano Lett (1): [27] Handyside AH. 24-chromosome copy number analysis: A comparison of available technologies. Fertil Steril (3): [28] Treff NR Fedick A Tao X et al. Evaluation of targeted nextgeneration sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril (5): e6. [29] Hou Y Fan W Yan L et al. Genome analyses of single human oocytes. Cell (7): [30] Baird DT Collins J Egozcue J et al. Fertility and ageing. Hum Reprod Update (3): [31] Hodes-Wertz B Grifo J Ghadir S et al. Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos. Fertil Steril (3): [32] Munné S Sandalinas M Escudero T et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online (1):91-7. [33] Gianaroli L Magli M Ferraretti A et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod (12): [34] Gianaroli L Magli MC Cavallini G et al. Frequency of aneuploidy in sperm from patients with extremely severe male factor infertility. Hum Reprod (8): [35] Mastenbroek S Twisk M Van der Veen F et al. Preimplantation genetic screening: a systematic review and meta-analysis of rcts. Hum Reprod Update (4): [36] Munné S Fischer J Warner A et al. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: A multicenter study. Fertil Steril (2): [37] Forman E Hong K Werner M et al. Reducing the burden of art care: single blastocyst transfer after comprehensive chromosome screening (CCS) provides equivalent delivery rates eliminates twins and lowers global health care costs. Fertil Steril (3):S43. [38] Mastenbroek S Twisk M van Echten-Arends J et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med (1):9-17. [39] (2): [40] Fiorentino F Biricik A Bono S et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril (5): [41] Gleicher N Kim A Weghofer A et al. Lessons from elective in vitro fertilization (IVF) in principally non-infertile women. Reprod Biol Endocrinol (1):48. [42] Fernandez-Gonzalez R Ramirez MA Pericuesta E et al. Histone modifications at the blastocyst axin1fu locus mark the heritability of in vitro culture-induced epigenetic alterations in mice. Biol Reprod (5): [43] Market-Velker B Fernandes A Mann M. Side-by-side comparison of five commercial media systems in a mouse model: Suboptimal in vitro culture interferes with imprint maintenance. Biol Reprod (6): [44] Kalra SK Ratcliffe SJ Barnhart KT et al. Extended embryo culture and an increased risk of preterm delivery. Obstet Gynecol (1): [45] Dar S Librach C Gunby J et al. IVF directors group of Canadian fertility and andrology society. Increased risk of preterm birth in singleton pregnancies after blastocyst versus day 3 embryo transfer: Canadian art register (cartr) analysis. Hum Reprod (4): [46] Gleicher N Kushnir VA Barad DH. Preimplantation genetic screening () still in search of a clinical application: A systematic review. Reprod Biol Endocrinol (1):22. ( ) 119

7 120 Advances in study on clinical application of pre-implantation genetic screening Yi-lun SUI 1 Xiao-xi SUN 123 (1. Obstetrics & Gynecology Hospital Fudan University Shanghai ) (2. Shanghai Jiai Genetics & IVF Institute Shanghai ) (3. Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai ) ABSTRACT A series of studies have shown that the new generation of (#2) based on blastocyst biopsy followed by whole genome analysis significantly improves the clinical outcome of IVF treatment. At present the blastocyst stage is the optimal time to perform biopsies for preimplantation genetic testing and is adopted by #2. Whole genome amplification of single cell is performed to obtain adequate embryo DNA after which either array or next generation sequencing is employed for genetic screening. Besides the technical advances the prevalence of aneuploidy and the number of transplantable blastocysts should also be taken into consideration when applying #2. The most suitable population for #2 should be women with endometrium factor ruled out meanwhile with chromosome abnormalities in high prevalence and blastocyst transplantable in plenty. Key words: preimplantation genetic screening () #2 embryo biopsy whole genome analysis *********************************************************************************************************************** ( 86 refer to p86) Effect of Diane-35 on polycystic ovary syndrome of different subtypes Xiao-yan DENG Ya-jun HU Hai-yan ZHOU Yan-qin DENG Jin-li LI (Department of Gynecology and Obstetrics the First Hospital of Wuhan Wuhan ) ABSTRACT Objective: To explore the effect of Daine-35 on serum hormone and antral follicle count (AFC) of different subtypes of polycystic ovary syndrome (PCOS). Methods: A total of 138 cases of PCOS were recruited and typed according to Rotterdam diagnostic criteria and 78 cases of tubal infertility without hyperandrogenism (HA) and menstrual disorders during the same period were collected as the control. Serum reproductive hormones including follicle-stimulating hormone (FSH) luteotropic hormone (LH) prolactin (PRL) estradiol (E2) dehydroepiandrosterone (DHEAS) total testosterone (TT) and fast insulin (FINS) were determined by chemiluminescent immunoassay. Ovarian AFC was determined by ultrasonography. The effects of Daine -35 on above indexes were evaluated for different subtypes of PCOS after 3 cycles of treatment with Daine -35. Results: The number of the cases in type A and type B were 43 (31.2%) and 73 (52.9%) respectively. They were the most common clinical phenotypes of PCOS in the central region of China. TT and DHEAS levels of types A C and D were higher than those of the control (P<0.05). The LH LH/FSH FINS and HOMA-IR levels in all types of PCOS were higher than those of the control (P<0.05). AFC of types A B and D was more than that of type C and the control (P<0.05). After treatment with Daine-35 for 3 cycles the serum TT levels of types A C and D decreased significantly (P<0.05). DHEAS values also decreased but with no significance (P>0.05). The serum LH level and LH/FSH as well as the AFC of all the PCOS types significantly decreased (P<0.01). Conclusion: Type A and type B are the most common clinical phenotypes of PCOS in the central region of China. Taking Daine-35 for 3 cycles can significantly reduce the serum androgen level serum LH level LH/FSH ratio and AFC of different PCOS types. Key words: Daine-35 polycystic ovary syndrome (PCOS) phenotype androgen antral follicle count (AFC)

Chromosomal Aneuploidy

The Many Advantages of Trophectoderm Biopsy Compared to Day 3 Biopsy for Pre- Implantation Genetic Screening (PGS) Mandy Katz-Jaffe, PhD Chromosomal Aneuploidy Trisomy 21 Fetus Aneuploidy is the most common