RESOURCES

CARRIER SCREENING

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.

Shraga, R., S. Yarnall, S. Elango, A. Manoharan, S. Rodríguez, S.L. Bristow, N. Kumar, M. Niknazar, D. Hoffman, S. Ghadir, R. Vassena, S.H. Chen, A. Hershlag, J. Grifo, & O. Puig. 2017. Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening. BMC Genetics 18(1):99.

Link: https://pubmed.ncbi.nlm.nih.gov/29179688/

Carrier Screening for Inherited Genetic Disorders: A Review of Current Practices.

Kumar, N. & S. Rodríguez. “Chapter 4 - Carrier Screening for Inherited Genetic Disorders: A Review of Current Practices.” In Reproductomics: The -Omics Revolution and its Impact on Human Reproductive Medicine, J. A. Horcajadas & J. Gosálvez (Eds.). Elsevier Academic Press, 2018.

Link: https://www.elsevier.com/books/reproductomics/horcajadas/978-0-12-812571-7

PREIMPLANTATION GENETIC TESTING

An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening

Grati FR, Gallazzi G, Branca L, Maggi F, Simoni G, Yaron Y. An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening. Reprod Biomed Online. 2018;36(4):442-449. doi:10.1016/j.rbmo.2018.01.005

Link https://pubmed.ncbi.nlm.nih.gov/29433970/

Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics

Besser AG, Blakemore JK, Grifo JA, Mounts EL. Transfer of embryos with positive results following preimplantation genetic testing for monogenic disorders (PGT-M): experience of two high-volume fertility clinics. J Assist Reprod Genet. 2019;36(9):1949-1955. doi:10.1007/s10815-019-01538-2

Link https://pubmed.ncbi.nlm.nih.gov/31359233/

Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer.

Friedenthal J, Maxwell SM, Tiegs AW, et al. Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer. Eur J Med Genet. 2020;63(5):103852. doi:10.1016/j.ejmg.2020.103852

Link https://pubmed.ncbi.nlm.nih.gov/31972371/

Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing.

Munné S, Blazek J, Large M, et al. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;108(1):62-71.e8. doi:10.1016/j.fertnstert.2017.05.002

Link https://pubmed.ncbi.nlm.nih.gov/28579407/

Genetic Counseling for Preimplantation Genetic Testing

Black LD, Fischer, JM. Chapter 2 – Genetic Counseling for Preimplantation Genetic Testing. In Preimplantation Genetic Testing: Recent Advances in Reproductive Medicine. DK Griffin & GL Harton (Eds.) CRC Press, 2020.

Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations.

Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, Lathi RB. Fertil Steril. 2015 Apr;103(4):1037-42.

Link https://www.fertstert.org/article/S0015-0282(14)02549-7/fulltext

Preimplantation genetic screening: who benefits?

Kang HJ, Melnick AP, Stewart JD, Xu K, Rosenwaks Z. Preimplantation genetic screening: who benefits?. Fertil Steril. 2016;106(3):597-602. doi:10.1016/j.fertnstert.2016.04.027

Link https://pubmed.ncbi.nlm.nih.gov/27143516/

What are patients doing with their mosaic embryos? Decision making after genetic counseling

Besser AG, McCulloh DH, Grifo JA. What are patients doing with their mosaic embryos? Decision making after genetic counseling. Fertil Steril. 2019;111(1):132-137.e1. doi:10.1016/j.fertnstert.2018.10.001

Link https://pubmed.ncbi.nlm.nih.gov/30424881/

PGDIS Position Statement on the Transfer of Mosaic Embryos

Preimplantation Genetic Diagnosis International Society. PGDIS Position Statement on the Transfer of Mosaic Embryos 2019. PGDIS Newsletter; August 2019.

Link https://www.rbmojournal.com/article/S1472-6483(19)30599-1/fulltext

The Use of preimplantation Genetic testing for aneuploidy (PGT-A) a committee opinion

The Use of preimplantation Genetic testing for aneuploidy (PGT-A) a committee opinion. Fertil Steril. 2018 March;109(3):429-435.

Link https://www.fertstert.org/article/S0015-0282(18)30002-5/pdf

Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion

Ethics Committee of the American Society for Reproductive Medicine. Electronic address: ASRM@asrm.org; Ethics Committee of the American Society for Reproductive Medicine. Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion. Fertil Steril. 2017;107(5):1130-1135. doi:10.1016/j.fertnstert.2017.02.121

Link https://pubmed.ncbi.nlm.nih.gov/28476180/

Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, Rabinowitz M. Hum Reprod. 2010;25:1066-75.

Link https://academic.oup.com/humrep/article/25/4/1066/696985

Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass

Johnson DS, Cinnioglu C, Ross R, Filby A, Gemelos G, Hill M, Ryan A, Smotrich D, Rabinowitz M, Murray MJ. Mol Hum Reprod. 2010;16:944-9.

Link https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989828/

Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening

Besser AG, Mounts EL. Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening. Reprod Biomed Online. 2017;34(4):369-374. doi:10.1016/j.rbmo.2017.01.003

Link https://pubmed.ncbi.nlm.nih.gov/28129970/

Genetic counseling for preimplantation genetic testing (PGT): Practical and ethical challenges

Mounts EL, Besser AG. “Chaper 6 - Genetic counseling for preimplantation genetic testing (PGT): Practical and ethical challenges.” In Human Embryos and Preimplantation Genetic Technologies: Ethical, Social, and Public Policy Aspects. E. Sills & Gianpiero Palermo (Eds.) Academic Press, 2019.

Link https://www.elsevier.com/books/human-embryos-and-preimplantation-genetic-technologies/sills/978-0-12-816468-6

Degree of mosaicism in trophectoderm does not predict pregnancy potential: a corrected analysis of pregnancy outcomes following transfer of mosaic embryos.

Kushnir, V., Darmon, S., Barad, D., and Gleicher, N. Degree of mosaicism in trophectoderm does not predict pregnancy potential: a corrected analysis of pregnancy outcomes following transfer of mosaic embryos. Reprod Biol Endocrinol. 2018; 16:6.

Link https://pubmed.ncbi.nlm.nih.gov/29373974/

Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion

Practice Committee and the Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion. Fertil Steril. 2020;114(2):245-254. doi: 10.1016/j.fertnstert.2020.05.014

Link: https://www.fertstert.org/article/S0015-0282(20)30499-4/fulltext?dgcid=raven_jbs_etoc_email#articleInformation

FAMILY HISTORY RISK ASSESSMENT

Standardized Human Pedigree Nomenclature

Bennett, R.L., French, K.S., Resta, R.G. et al. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. J Genet Counsel 17, 424–433 (2008).

Link https://doi.org/10.1007/s10897-008-9169-9

Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic

Vance, A. Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic. J Assist Reprod Genet. 2020. doi:https://doi.org/10.1007/s10815-020-01870-y

OTHER GENETICS RESOURCES

Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

K. Merrion and M. Maisenbacher. J Assist Reprod Genet. 2019 Nov 16.

Link https://link.springer.com/article/10.1007/s10815-019-01601-y

Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages

Maisenbacher MK, Merrion K, Kutteh WH. Fertil Steril. 2019 Aug 5. pii: S0015-0282(19)30548-5. doi: 10.1016/j.fertnstert.2019.06.015.

Link https://www.fertstert.org/article/S0015-0282(19)30548-5/fulltext

Chromosome Abnormalities and Genetic counseling Forth Edition by Gardner, Sutherland, and Shaffer

Advanced paternal age, infertility, and reproductive risks: A review of the literature

Brandt JS, Cruz Ithier MA, Rosen T, Ashkinadze E. Advanced paternal age, infertility, and reproductive risks: A review of the literature. Prenat Diagn. 2019;39(2):81-87. doi:10.1002/pd.5402 https://pubmed.ncbi.nlm.nih.gov/30520056/

Harper’s Practical Genetic Counseling

Clarke, A. (2020). Harper's Practical Genetic Counselling, Eighth Edition. London: CRC Press, https://doi.org/10.1201/9780367371944

Mother to baby: Medications & More During Pregnancy & Breastfeeding

https://mothertobaby.org/fact-sheets-parent/

Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens

Shah MS, Cinnioglu C, Maisenbacher M, Comstock I, Kort J, Lathi RB. Fertil Steril. 2017 Apr;107(4):1028-1033.

Link https://www.fertstert.org/article/S0015-0282(17)30212-1/fulltext

Genetic Counseling and Assisted Reproductive Technologies

Lilienthal D, Cahr M. Genetic Counseling and Assisted Reproductive Technologies [published online ahead of print, 2019 Sep 30]. Cold Spring Harb Perspect Med. 2019;a036566. doi:10.1101/cshperspect.a036566

Link https://pubmed.ncbi.nlm.nih.gov/31570374/

Evidence-Based Cancer Guidelines

National Comprehensive Cancer Network

https://www.nccn.org/

LEGAL

ASRM Legal Professional Group

https://connect.asrm.org/lpg/home?ssopc=1

Legally Speaking

Legally Speaking: Focus on Genetic Testing. Sept 13, 2019. By Lisa Rinehart, R.N., B.S.N., J.D.

https://www.asrm.org/news-and-publications/news-and-research/legally-speaking/focus-on-genetic-testing/

PSYCH

ASRM Mental Health Professional Group

https://connect.asrm.org/mhpg/home?ssopc=1

Empirical Risk Data for Psychiatric Illnesses

Link https://www.nsgc.org/p/do/sd/topic=167&sid=896

Lightening the burden of care in assisted reproductive technology

Meldrum DR. Lightening the burden of care in assisted reproductive technology. Fertil Steril. 2016;105(5):1144-1145. doi:10.1016/j.fertnstert.2016.03.016

Link https://www.fertstert.org/article/S0015-0282(16)30049-8/fulltext

PATIENT RESOURCES

Reproductive Facts

www.ReproductiveFacts.org

Teratogen Information

www.Mothertobaby.org

Find a Genetic Counselor

https://www.nsgc.org/page/find-a-genetic-counselor