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Screening of aneuploidies

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https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#1
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#2
Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#3
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29303233/high-percentages-of-embryos-with-21-18-or-13-trisomy-are-related-to-advanced-paternal-age-in-donor-egg-cycles
#4
Javier García-Ferreyra, Roly Hilario, Julio Dueñas
OBJECTIVE: Advanced paternal age is related to poor sperm quality; however, little is known on its effect on aneuploidy embryo rates and, more importantly, on chromosomal abnormalities like trisomy 21, 18 and 13. The objective of this study was to evaluate the effect of advanced paternal age on the trisomy rates of the chromosomes 21, 18 or 13 in embryos obtained from donated oocytes. METHODS: A total of 378 embryos, obtained from 52 IVF/ICSI cycles with donated oocytes in conjunction with PGD, were allocated according to paternal age in three groups: Group A: ≤39 years (n=115 embryos), Group B: 40-49 years (n=157 embryos) and Group C: ≥50 year (n=106 embryos)...
January 5, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29296790/maternal-iamp21-acute-lymphoblastic-leukemia-detected-on-prenatal-cell-free-dna-genetic-screening
#5
Marlise R Luskin, Marie N Discenza, Sarah Rae Easter, Paola Dal Cin, Renius Owen, Bernard Ilagan, Meredith Masiello, Andrew A Lane
cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy.Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.
August 22, 2017: Blood Advances
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#6
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29275822/screening-for-fetal-growth-restriction-using-fetal-biometry-combined-with-maternal-biomarkers
#7
REVIEW
Francesca Gaccioli, Irving L M H Aye, Ulla Sovio, D Stephen Charnock-Jones, Gordon C S Smith
Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Systematic reviews of randomized controlled trials do not demonstrate any benefit from universal ultrasound screening for fetal growth restriction in the third trimester, but the evidence base is not strong...
December 22, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29241923/maternal-serum-placental-growth-factor-combined-with-second-trimester-aneuploidy-screening-to-predict-small-for-gestation-neonates-without-preeclampsia
#8
Su Mi Kim, Hang Goo Yun, Ra Yon Kim, Yoo Hyun Chung, Ju Young Cheon, Jeong Ha Wie, Ji Young Kwon, Hyun Sun Ko, Yeon Hee Kim, Eun Hee Han, Joon Hong Park, Hyun Jung Kim, Myung Shin Kim, Jong Chul Shin, In Yang Park
OBJECTIVE: To investigate the role of maternal serum placenta growth factor (PlGF) and quadruple test parameters in predicting the risk of small for gestational age (SGA) infants of mothers without preeclampsia. MATERIALS AND METHODS: We prospectively enrolled 300 pregnant patients who underwent blood sampling at 15-18 weeks gestation and followed them until delivery. Cases with SGA neonate delivery (n = 100) were compared with matched AGA neonate controls (n = 200)...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29229435/developmental-and-cytogenetic-assessments-of-preimplantation-embryos-derived-from-in-vivo-or-in-vitro-matured-human-oocytes
#9
Farzaneh Fesahat, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha, Hojjatollah Saeedi, Fatemeh Montazeri, Razieh Dehghani Firouzabadi, Mohammad Ali Khalili
Aneuploidy is of great relevance to embryo selection, as it represents one of the important causes of implantation failure. Furthermore, immature oocytes, retrieved during gonadotrophin-stimulated IVF cycles, are generally discarded in clinics; whereas, there was no detectable comprehensive evidence on higher rates of aneuploidy based on maturity status on the day of oocyte retrieval. As well, the correlation between embryo morphology on aneuploidy remains unclear. The aim was to evaluate the developmental and genetic integrity of human preimplantation embryos from rescue in-vitro matured MII stage oocytes as well as in vivo matured oocytes...
December 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29218703/epidemic-of-large-babies-highlighted-by-use-of-intergrowth21st-international-standard
#10
Felicity J Park, Brad de Vries, Jon A Hyett, Adrienne Gordon
OBJECTIVE: To compare birth weights in central Sydney to the INTERGROWTH21st international standard to describe current trends in relation to optimal growth and to define areas that may benefit from improved obstetric surveillance and intervention. METHODS: Retrospective analysis of prospectively collected cohort. DESIGN: hospital-based cohort study. SETTING: Sydney Local Health District, Australia. POPULATION OR SAMPLE: women with singleton pregnancies who had first trimester screening for aneuploidy between 16 April, 2010 and 9 March, 2012...
December 8, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29216009/the-first-trimester-aneuploidy-biochemical-markers-in-ivf-icsi-patients-have-no-additional-benefit-compared-to-spontaneous-conceptions-in-the-prediction-of-pregnancy-complications
#11
Iwona Szymusik, Przemyslaw Kosinski, Katarzyna Kosinska-Kaczynska, Damian Warzecha, Anetta Karwacka, Bartosz Kaczynski, Miroslaw Wielgos
OBJECTIVES: The aim of this study was to determine if the levels of biochemical aneuploidy markers in in vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) pregnancies differ from those in spontaneous pregnancies and to verify if biochemical markers could predict pregnancy outcome in IVF/ICSI gestations. METHODS: This was a prospective observational study performed in a group of 551 patients who underwent a combined first trimester prenatal screening (ultrasound scan and serum markers)...
December 7, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#12
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#13
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29207696/correlation-of-pregnancy-associated-plasma-protein-a-and-zinc-with-calculated-risk-ratio-of-dual-test
#14
Indranil Ghoshal, Bolar Suryakanth Varashree, Vijetha Shenoy Belle, Krishnananda Prabhu
Introduction: First trimester screening by dual test is the most preferred method of antenatal screening. The detection rate of foetal aneuploidy using dual test is 95%. This test uses maternal serum free β human Chorionic Gonadotropin (free β hCG) and Pregnancy Associated Plasma Protein A (PAPP-A) along with maternal demographic and foetal sonographic indices to calculate risk for foetal aneuploidy. PAPP-A is a zinc binding metalloproteinase which is also responsible for placental development and foetal growth...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203382/thirteen-years-experience-of-893-pgd-cycles-for-monogenic-disorders-in-a-publicly-funded-nationally-regulated-regional-hospital-service
#15
Anne Girardet, Aliya Ishmukhametova, Victoria Viart, Stéphanie Plaza, Florielle Saguet, Garance Verriere, Samir Hamamah, Isabelle Coupier, Emmanuelle Haquet, Tal Anahory, Marjolaine Willems, Mireille Claustres
This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context of a fully financially covered service at Montpellier's regional hospital centre. Within the framework of a restrictive law ruling PGD in France, only the parental genetic risk can be studied in embryos (concurrent aneuploidy screening is not allowed). PCR-based techniques were developed combining mutation detection and closely linked short tandem repeat markers within or flanking the affected genes, and set up more than 100 different robust fluorescent multiplex assays for 61 monogenic disorders...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29202974/embryo-aneuploidy-is-not-impacted-by-selective-serotonin-reuptake-inhibitor-exposure
#16
Carlos Hernandez-Nieto, Joseph Lee, Taraneh Nazem, Dmitry Gounko, Alan Copperman, Benjamin Sandler
OBJECTIVE: To study whether maternal exposure to selective serotonin reuptake inhibitors (SSRIs) has any influence on rates of blastocyst aneuploidy and/or in vitro fertilization (IVF) cycle outcomes. DESIGN: Retrospective cohort analysis. SETTING: Private and academic IVF center. PATIENT(S): Patients who underwent IVF with preimplantation genetic treatment with trophectoderm biopsy (n = 4,355 cycles) and patients who underwent a single-embryo transfer (SET) between January-2012 and June-2017 (n = 2,132 cycles)...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29193652/decisions-about-aneuploidy-screening-why-women-s-reasons-are-important
#17
Dafina Petrova, Rocio Garcia-Retamero
Several tests exist that can help detect Down syndrome and other chromosomal disorders during the first weeks of pregnancy. Non-invasive prenatal testing (NIPT) is gaining popularity because of its improved accuracy over traditional screening methods and its improved safety compared to invasive tests that carry some risk of miscarriage. In a recent study conducted in Hong Kong, Cheng et al. recruited women at high or intermediate risk of Down syndrome according to their 1st or 2nd trimester screening. This article is protected by copyright...
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29191449/extent-of-chromosomal-mosaicism-influences-the-clinical-outcome-of-in%C3%A2-vitro-fertilization-treatments
#18
Francesca Spinella, Francesco Fiorentino, Anil Biricik, Sara Bono, Alessandra Ruberti, Ettore Cotroneo, Marina Baldi, Elisabetta Cursio, Maria Giulia Minasi, Ermanno Greco
OBJECTIVE: To assess whether the extent of chromosomal mosaicism can influence the success rate of IVF treatments. DESIGN: Prospective study. SETTING: Private genetic and assisted reproduction centers. PATIENT(S): The transfer of mosaic embryos was offered to 77 women for which IVF resulted in no euploid embryos available for transfer. INTERVENTION(S): All embryos were cultured to blastocyst stage; trophectoderm biopsy was performed on day 5/6 of development...
November 28, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29186554/preclinical-validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-methodology-in-human-blastocysts
#19
R S Zimmerman, X Tao, D Marin, M Werner, K Hong, A Lonczak, J Landis, D Taylor, Y Zhan, R T Scott, N R Treff
STUDY QUESTION: Can a novel targeted next generation sequencing (tNGS) platform accurately detect whole chromosome aneuploidy in a trophectoderm biopsy and provide additional information to improve testing? SUMMARY ANSWER: Karyotypes obtained by tNGS were concordant with other validated platforms and SNP genotyping information obtained can be used for improved detection and quality control. WHAT IS KNOWN ALREADY: qPCR-based whole chromosome aneuploidy screening is highly accurate in comparison to other common methods and has been shown to improve IVF success in two randomized clinical trials...
November 25, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29179272/-analysis-of-non-invasive-prenatal-screening-detection-in-fetal-chromosome-aneuploidy
#20
A J Cai, C F Zhu, S W Xue, S Y Cui, S Z Qu, N Liu, X D Kong
Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies. Methods: Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1(st), 2015 to March 15(th), 2016. Among them, 5 230 (93.96%, 5 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 566) were twin pregnancies. In singleton pregnancies, 1 809 (34.59%, 1 809/5 230) were women with advanced maternal age, and 3 421 (65...
November 25, 2017: Zhonghua Fu Chan Ke za Zhi
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