A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by non-invasive prenatal diagnosis

Journal of Genetics and Genomics

Volumn 41, Issue 8, 2014, Pages 453-456

  Wang, Hui ^a,b   Wang, Li ^a   Ma, Minyue ^a   Song, Zhuo ^c   Zhang, Jianguang ^c   Xu, Genming ^c   Fan, Junmei ^a   Li, Na ^a   Cram, David S ^c   Yao, Yuanqing ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Beijing Shijingshan Hospital   (China)

^c Berry Genomics   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; ESTRADIOL; FOLLITROPIN; GENOMIC DNA; LUTEINIZING HORMONE; PROGESTERONE; TESTOSTERONE;

ADULT; ANEUPLOIDY; BLASTOCYST; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION; COPY NUMBER VARIATION; EMBRYO; EMBRYO TRANSFER; ENDOMETRIAL THICKNESS; ESTRADIOL BLOOD LEVEL; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; GONADOTROPIN BLOOD LEVEL; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; LETTER; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MALE INFERTILITY; PHYSICAL EXAMINATION; PILOT STUDY; PRE IMPLANTATION GENETIC DIAGNOSIS; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PROGESTERONE BLOOD LEVEL; SPERMATOZOON DENSITY; TESTOSTERONE BLOOD LEVEL; VITRIFICATION; CHROMOSOME ABERRATION; LIVE BIRTH; NEXT GENERATION SEQUENCING; PARTIAL MONOSOMY; PREIMPLANTATION GENETIC DIAGNOSIS; PRIMIGRAVIDA; REPRODUCTIVE HISTORY; SEX CHROMOSOME; VALIDATION STUDY; ANIMAL EMBRYO; DNA SEQUENCE; GENETICS; MOLECULAR DIAGNOSIS; PREGNANCY; PROCEDURES;

ADULT; DNA COPY NUMBER VARIATIONS; EMBRYO, MAMMALIAN; FEMALE; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 84906790977     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2014.06.007     Document Type: Letter

References (19)

1. Bianchi D.W., Parker R.L., Wentworth J., Madankumar R., Saffer C., Das A.F., Craig J.A., Chudova D.I., Devers P.L., Jones K.W., Oliver K., Rava R.P., Sehnert A.J. DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med. 2014, 370:799-808.
2. Fiorentino F., Spizzichino L., Bono S., Biricik A., Kokkali G., Rienzi L., Ubaldi F.M., Iammarrone E., Gordon A., Pantos K. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum. Reprod. 2011, 26:1925-1935.
3. Harper J.C., Wilton L., Traeger-Synodinos J., Goossens V., Moutou C., SenGupta S.B., Pehlivan Budak T., Renwick P., De Rycke M., Geraedts J.P., Harton G. The ESHRE PGD Consortium: 10 years of data collection. Hum. Reprod. Update 2012, 18:234-247.
4. Harton G.L., Munne S., Surrey M., Grifo J., Kaplan B., McCulloh D.H., Griffin D.K., Wells D. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil. Steril. 2013, 100:1695-1703.
5. Koboldt D.C., Steinberg K.M., Larson D.E., Wilson R.K., Mardis E.R. The next-generation sequencing revolution and its impact on genomics. Cell 2013, 155:27-38.
6. Liu J., Wang W., Sun X., Liu L., Jin H., Li M., Witz C., Williams D., Griffith J., Skorupski J., Haddad G., Gill J. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol. Reprod. 2012, 87:148.
7. Munne S. Preimplantation genetic diagnosis for aneuploidy and translocations using array comparative genomic hybridization. Curr. Genomics 2012, 13:463-470.
8. Schoolcraft W.B., Treff N.R., Stevens J.M., Ferry K., Katz-Jaffe M., Scott R.T. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients. Fertil. Steril. 2011, 96:638-640.
9. Scott R.T., Upham K.M., Forman E.J., Hong K.H., Scott K.L., Taylor D., Tao X., Treff N.R. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases invitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil. Steril. 2013, 100:697-703.
10. Simpson J.L., Samango-Sprouse C. Prenatal diagnosis and 47,XXY. Am. J. Med. Genet. A 2013, 163C:64-70.
11. Song Y., Liu C., Qi H., Zhang Y., Bian X., Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat. Diagn. 2013, 33:700-706.
12. Tan Y.Q., Tan K., Zhang S.P., Gong F., Cheng D.H., Xiong B., Lu C.F., Tang X.C., Luo K.L., Lin G., Lu G.X. Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Hum. Reprod. 2013, 28:2581-2592.
13. Treff N.R., Northrop L.E., Kasabwala K., Su J., Levy B., Scott R.T. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil. Steril. 2011, 95:1606-1612.
14. Wang Y., Chen Y., Tian F., Zhang J., Song Z., Wu Y., Han X., Hu W., Ma D., Cram D., Cheng W. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin. Chem. 2014, 60:251-259.
15. Wang L., Cram D.S., Shen J.D., Wang X.H., Zhang J.G., Song Z., Xu G.M., Li N., Fan J.M., Wang S.F., Luo Y.N., Wang J., Yu L., Liu J.Y., Yao Y.Q. Validation of copy number variation sequencing for detecting chromosome imbalances in preimplantation embryos. Biol. Reprod 2014, 10.1095/biolreprod.114.120576.
16. Wang L., Wang X., Zhang J., Song Z., Wang S., Gao Y., Wang J., Luo Y., Niu Z., Yue X., Xu G., Cram D.S., Yao Y. Detection of chromosomal aneuploidy in human preimplantation embryos by next-generation sequencing. Biol. Reprod. 2014, 90:95.
17. Yang Z., Liu J., Collins G.S., Salem S.A., Liu X., Lyle S.S., Peck A.C., Sills E.S., Salem R.D. 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. 2012, 5:24.
18. Yang Z., Salem S.A., Liu X., Kuang Y., Salem R.D., Liu J. Selection of euploid blastocysts for cryopreservation with array comparative genomic hybridization (aCGH) results in increased implantation rates in subsequent frozen and thawed embryo transfer cycles. Mol. Cytogenet. 2013, 6:32.
19. Zheng Y.M., Wang N., Li L., Jin F. Whole genome amplification in preimplantation genetic diagnosis. J. Zhejiang Univ. 2011, B12:1-11.