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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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125 hot topic(s) found with the query "Prenatal testing"

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora Neeta L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan (Posted: Jan-25-2020 8AM)

We investigated the diagnostic and clinical performance of trio exome sequencing (ES) in parent-fetus trios where the fetus had sonographic abnormalities but normal karyotype, microarray and, in some cases, normal gene-specific sequencing. In 21/102 (20.6%) fetuses, ES provided a positive-definitive or positive-probable diagnosis.


The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
KG Monaghan et al. Genetics in Medicine, January 8, 2020 (Posted: Jan-08-2020 9AM)

The following points to consider document was developed with the intent to assist referring physicians, laboratory geneticists, genetic counselors, and other medical professionals in understanding the complexity and implications of ES testing as its utilization is increasing in prenatal care.


Why using genetic risk scores on embryos is wrong
E Birney blog, November 11, 2019 (Posted: Nov-12-2019 8AM)

Polygenic risk scores are statistical models of the genetic component of the variation in traits in individuals observed in the population; they are not models of which bits of the limited possibilities of a genomes will impact a trait given particular parents.


TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
AJHG, November 7, 2019 (Posted: Nov-08-2019 9AM)

The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. n the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing.


Screening embryos for complex genetic traits called premature
J Kaiser, Science, October 25, 2019 (Posted: Oct-26-2019 10AM)

This is the first to empirically test the viability of screening embryos” for traits that are influenced by many genes. Such tests are based on a polygenic risk score, a tool for evaluating a person's likelihood of a disease or trait that has emerged over the past decade. The ethical debate over this brave new expansion of embryo screening is just beginning.


Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.
Fridman Hila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct (Posted: Oct-20-2019 11AM)

Expanded preconception carrier screening (ECS) identifies at-risk couples (ARCs) for multiple diseases. ECS reports currently include only pathogenic/likely pathogenic variants (P/LPVs). Variants of unknown significance (VUS) are not reported. The study examined the impact of VUS on ECS yield in an Ashkenazi Jewish cohort.


The wild west of prenatal genetic testing
A Ramchandani, Mashable, August 2019 (Posted: Sep-06-2019 7AM)


Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Wang Huilin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug (Posted: Aug-27-2019 7AM)


Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.
Grati Francesca Romana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug (Posted: Aug-09-2019 8AM)


Recent trends in prenatal genetic screening and testing.
Pös Ondrej et al. F1000Research 2019 8 (Posted: Jun-26-2019 9AM)


Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Rousseau François et al. European journal of human genetics : EJHG 2019 Jun (Posted: Jun-25-2019 0PM)

The study compared clinical validity of two non-invasive prenatal screening (NIPS) methods for fetal trisomies 13, 18, 21, and monosomy X. We recruited prospectively 2203 women at high risk of fetal aneuploidy and 1807 at baseline risk. Both sequencing platforms showed equivalent and excellent clinical validity


New Noninvasive Genetic Tests for IVF Embryos Are in Development
D Hernandez, Wall Street Journal, June 25, 2019 (Posted: Jun-25-2019 0PM)

Scientists are developing more accurate and less invasive ways to test whether embryos made through in vitro fertilization procedures might have genetic abnormalities. The new tests could help the growing numbers of people pursuing IVF to make sure any embryo used is free from the genetic defects that can lead to miscarriage or devastating inherited diseases.


Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Treff Nathan R et al. European journal of medical genetics 2019 Apr (Posted: May-01-2019 9AM)


Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA: Noninvasive Prenatal Diagnosis.
Dello Russo Claudio et al. The Journal of molecular diagnostics : JMD 2019 Apr (Posted: May-01-2019 9AM)


Impact of introduction of non-invasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.
Al Toukhi Samar et al. Prenatal diagnosis 2019 Apr (Posted: May-01-2019 9AM)


Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
Ji Xing et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr (Posted: Apr-15-2019 8AM)


No US commercial laboratories fully meet guidance for noninvasive prenatal screening
Mass General Hospital, April 2, 2019 (Posted: Apr-03-2019 10AM)


From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning Maayke A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar (Posted: Mar-29-2019 9AM)


Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.
et al. Ontario health technology assessment series 2019 19(4) 1-166 (Posted: Mar-12-2019 11AM)


Towards a gamete matching platform: using immunogenetics and artificial intelligence to predict recurrent miscarriage
A Mora-Sanchez, et al, NPJ Digital Medicine, March 2019 (Posted: Mar-12-2019 9AM)


Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
MH Guo et al, Genetics in Medicine, March 8, 2019 (Posted: Mar-08-2019 0PM)


Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
D Liang et al, Genetics in Medicine, March 4, 2019 (Posted: Mar-04-2019 1PM)


Pregnant women want physicians' advice on receiving fetal genomic information,
Physicians will need more training as new testing technologies are adopted Brand (Posted: Feb-26-2019 2PM)


Feasibility of couple-based expanded carrier screening offered by general practitioners
J Shuurmans et al, Eur J Hum Genetics, February 11, 2019 (Posted: Feb-14-2019 8AM)


Expanded reproductive carrier screening—how can we do the most good and cause the least harm?
MB Delatycki et al, Eur J Hum Genetics, February 13, 2019 (Posted: Feb-14-2019 8AM)


Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences.
Sullivan Haley K et al. Obstetrics and gynecology 2019 Feb (Posted: Feb-12-2019 10AM)


The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.
Larsen Dana et al. Prenatal diagnosis 2019 Feb (Posted: Feb-12-2019 10AM)


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord Jenny et al. Lancet (London, England) 2019 Jan (Posted: Feb-05-2019 11AM)


Introduction of genomics into prenatal diagnostics.
Talkowski Michael E et al. Lancet (London, England) 2019 Jan (Posted: Feb-05-2019 11AM)


Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski Slavé et al. Lancet (London, England) 2019 Jan (Posted: Feb-05-2019 11AM)


Prospective parents should be prepared for a surge in genetic data- The growing capabilities of prenatal diagnostics are expanding the need for counselling.
Nature editorial, January 29, 2019 (Posted: Jan-29-2019 6PM)


Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
J Xhang et al, Nature Medicine, January 29, 2019 (Posted: Jan-29-2019 6PM)


A safe prenatal genetic test is gaining popularity with young moms-to-be and their doctors
SE Richards, Washington Post, January 5, 2019 (Posted: Jan-09-2019 1PM)


The Power of Preimplantation Genetic Testing
S Karipcin, US News, January 3, 2019 (Posted: Jan-04-2019 9AM)


Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
GKC Leung et al, BMC Medical Genomics, October 25, 2018 (Posted: Oct-30-2018 0PM)


Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial.
Carlson Laura M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep (Posted: Sep-19-2018 9AM)


The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening.
Evans Mark I et al. Prenatal diagnosis 2018 Sep 38(10) 730-734 (Posted: Sep-12-2018 9AM)


Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
Malan Valérie et al. JAMA 2018 Aug 320(6) 557-565 (Posted: Aug-22-2018 11AM)


Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy?
Kimelman Dana et al. Journal of assisted reproduction and genetics 2018 Aug (Posted: Aug-22-2018 11AM)


Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population.
Kostenko Emilia et al. Fetal diagnosis and therapy 2018 Aug 1-11 (Posted: Aug-22-2018 11AM)


Sequencing of Circulating Cell-free DNA during Pregnancy.
Bianchi Diana W et al. The New England journal of medicine 2018 Aug (5) 464-473 (Posted: Aug-02-2018 8AM)


Fetal DNA sequencing potentially could reduce need for invasive prenatal diagnostic procedures
NIH, August 1, 2018 Brand (Posted: Aug-02-2018 8AM)


Noninvasive Prenatal Genetic Screening Using Cell-free DNA
MA Allyse et al, JAMA< July 30, 2018 (Posted: Jul-30-2018 1PM)


Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen
KA Beachamp et al, BioRXIV, July 2018 (Posted: Jul-24-2018 1PM)


Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.
Vora Neeta L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul (Posted: Jul-23-2018 11AM)


Making Pregnancy Safer
M Humphrey, Frontline Genomics, July 9, 2018 (Posted: Jul-14-2018 10AM)


Guidelines call for limits to whole genome testing for fetuses
L Sanders, Science News, May 31, 2018 (Posted: Jun-03-2018 9AM)


Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
GE Palomaki et al, Genetics in Medicine, Apr 26, 2018 (Posted: Apr-28-2018 8AM)


Women's perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions.
Vanstone Meredith et al. BMC medical ethics 2018 Apr 19(1) 27 (Posted: Apr-18-2018 10AM)


Noninvasive Prenatal Genetic Testing - Revolutionizing health assessments before birth
NHGRI, Apr, 2018 Brand (Posted: Apr-17-2018 6PM)


Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study.
Hui Lisa et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 Jan (Posted: Jan-31-2018 9AM)


Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing.
Qiang Rong et al. Experimental and therapeutic medicine 2017 May 13(5) 2304-2310 (Posted: Oct-04-2017 10AM)


Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
MD Pertile et al, Sci Trans Med, August 30, 2017 (Posted: Aug-30-2017 6PM)


Sequencing all 24 human chromosomes uncovers rare disorders - Study from NIH and other institutions may help improve prenatal genetic screening
NIH, August 30, 2017 Brand (Posted: Aug-30-2017 6PM)


Supporting Women’s Autonomy in Prenatal Testing
J Johnson et al, NEJM, August 2017 (Posted: Aug-10-2017 8AM)


Perinatal genetic screening: new technologies help parents learn more about the health of their baby
S Rosen, Mayo clinic individualized medicine blog, June 2017 (Posted: Jun-28-2017 8AM)


The dos and don’ts of non-invasive prenatal testing
P Brice, PHG Foundation, March 7, 2017 (Posted: Mar-09-2017 11AM)


Non-invasive Prenatal Testing: Exploring ethical issues in biology and medicine
Nuffeld Bioethics Report, March 2017 (Posted: Mar-08-2017 1PM)


Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing.
Peng Xianlu Laura et al. International journal of molecular sciences 2017 Feb (2) (Posted: Feb-28-2017 9AM)


How New Genetic Technologies Are Reshaping Pregnancy And Parenting
C Gregoire, Huffington Post, February 20, 2017 (Posted: Feb-22-2017 7AM)


Secrets of life in a spoonful of blood
C AInsworth, Nature News, February 7, 2017 (Posted: Feb-07-2017 3PM)


Non-invasive pre-natal test could be accurate as early as three weeks into pregnancy
J Harris, PHG Foundation, November 15, 2016 (Posted: Nov-15-2016 11AM)


Prenatal Genetic Testing of Pap Smears: Papoose?
R Lewis, PLOS Blogs, November 3, 2016 (Posted: Nov-03-2016 7AM)


Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct (10) 1056-65 (Posted: Oct-06-2016 7PM)


Prenatal and pre-implantation genetic diagnosis
JR Vermeesch et al, Nature Rev Genetics, September 2016 (Posted: Sep-15-2016 7AM)


Precision medicine: What to know about cell-free DNA screening
AMA Wire, August 31, 2016 (Posted: Sep-02-2016 11AM)


Precision Medicine For Your Practice: Prenatal Cell-free DNA Screening
AMA, CME course, AUgust 2016 (Posted: Sep-01-2016 4PM)


A genomic tool for better antenatal care
Genomics Education UK, July 11, 2016 (Posted: Jul-13-2016 6AM)


Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino Francesca et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 May 1-7 (Posted: Jun-01-2016 0PM)


Non Invasive Prenatal Screening or Advanced Diagnostic Testing: Caveat Emptor.
Evans Mark I et al. American journal of obstetrics and gynecology 2016 Apr (Posted: May-04-2016 8AM)


Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.
Lee Da Eun et al. The Journal of molecular diagnostics : JMD 2016 Mar (Posted: Mar-09-2016 8AM)


Overview of the impact of noninvasive prenatal testing on diagnostic procedures.
Warsof Steven L et al. Prenatal diagnosis 2015 Oct (10) 972-9 (Posted: Jan-08-2016 0PM)


Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.
Wong Felix C K et al. Annual review of medicine 2015 Oct (Posted: Jan-08-2016 0PM)


Noninvasive Prenatal Screening
Clinical Omics, November 2015 (Posted: Nov-11-2015 2PM)


Contingent non-invasive prenatal testing: An opportunity to improve non-genetic aspects of fetal aneuploidy screening.
Gyselaers Wilfried et al. Prenatal diagnosis 2015 Oct (Posted: Oct-14-2015 11AM)


Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.
Leiva Portocarrero Maria Esther et al. BMC medical informatics and decision making 15(1) 76 (Posted: Sep-30-2015 2PM)


First-trimester contingent screening for trisomies 21, 18 and 13 by fetal nuchal translucency and ductus venosus flow and maternal blood cell-free DNA testing.
Kagan K O et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 42-7 (Posted: Sep-16-2015 3PM)


UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake.
Gil M M et al. Ultrasound Obstet Gynecol 2015 Jan 45(1) 67-73 (Posted: Sep-16-2015 3PM)


Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing.
Williams John et al. Am. J. Obstet. Gynecol. 2015 Jul 213(1) 102.e1-6 (Posted: Sep-16-2015 3PM)


Prenatal Testing in the Genomic Age: Clinical Outcomes, Quality of Life, and Costs.
Kaimal Anjali J et al. Obstet Gynecol 2015 Sep 3. (Posted: Sep-09-2015 11AM)


Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Srebniak Malgorzata I et al. Eur. J. Hum. Genet. 2015 Sep 2. (Posted: Sep-09-2015 11AM)


Preconception counseling: do patients learn about genetics from their obstetrician gynecologists?
Mandelberger Adrienne H et al. J. Assist. Reprod. Genet. 2015 Jun 9. (Posted: Sep-02-2015 1PM)


Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.
Minear Mollie A et al. Annu Rev Genomics Hum Genet 2015 Aug 24. 16369-398 (Posted: Sep-02-2015 1PM)


National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening.
Robson Stephen J et al. Aust N Z J Obstet Gynaecol 2015 Aug 11. (Posted: Sep-02-2015 1PM)


It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
Wilfond Benjamin S et al. Mol Genet Genomic Med 2015 Jul (4) 239-42 (Posted: Sep-02-2015 1PM)


Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.
Sachs Amy et al. Prenat. Diagn. 2015 Aug 5. (Posted: Sep-02-2015 1PM)


NIPT/Cell Free DNA Screening Predictive Value Calculator
National Society of Genetic Counselors (Posted: Sep-02-2015 1PM)


Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.
Zhou Qiyin et al. Prenat. Diagn. 2014 Nov 34(11) 1061-5 (Posted: Sep-02-2015 1PM)


A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.
Walker Brandon S et al. PLoS ONE 2015 10(7) e0131402 (Posted: Sep-02-2015 1PM)


Whole exome and whole genome sequencing in prenatal testing: What's the whole story?
S Klugman et al, GeneWatch, June 2015 (Posted: Sep-02-2015 1PM)


Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
F Armant et al, JAMA Oncology, June 5, 2015 (Posted: Sep-02-2015 1PM)


What patients are reading about noninvasive prenatal testing: an evaluation of Internet content and implications for patient-centered care.
Mercer M B et al. Prenat. Diagn. 2014 Oct 34(10) 986-93 (Posted: Sep-02-2015 1PM)


Detection of Fetal Copy Number Variations by Noninvasive Prenatal Testing for Common Aneuploidies.
Li Ru et al. Ultrasound Obstet Gynecol 2015 May 29. (Posted: Sep-02-2015 1PM)


Cell-free DNA Screening for Fetal Aneuploidy
American College of Obstetricians and Gynecologists, Committee on Genetics, September, 2015 (Posted: Sep-02-2015 1PM)


Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center.
Neufeld-Kaiser Whitney A et al. BMC Med 2015 Jun 2. 13(1) 129 (Posted: Sep-02-2015 1PM)


Disrupting prenatal care -- a revolution is underway,
Medcape, Apr 13 [by free subscription only] (Posted: Sep-02-2015 1PM)


The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
Hrabik Sarah A et al. J. Child Neurol. 2015 Apr 10. (Posted: Sep-02-2015 1PM)


It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.
Muller Cécile et al. Health Expect 2015 Apr 13. (Posted: Sep-02-2015 1PM)


Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.
Dharajiya Nilesh et al. Curr Protoc Hum Genet 2015 8.15.1-8.15.20 (Posted: Sep-02-2015 1PM)


Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Wapner Ronald J et al. Am. J. Obstet. Gynecol. 2015 Mar (3) 332.e1-9 (Posted: Sep-02-2015 1PM)


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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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