Focus 13 July 2020

Focus on Obstetrics and Gynecology

Genetics in Medicine has published numerous articles of interest to clinicians working in Obstetrics and Gynecology. The editors have compiled the most pertinent articles to highlight a few that will be most useful for busy practitioners and researchers in the Ob/Gyn field.

Relevant subject areas include but are not limited to prenatal diagnosis, non-invasive prenatal screening, carrier screening, infertility, and prenatal counseling among many others.

Content

Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks
- Michael Wolfson
- Steve Gribble
- Jacques Simard
ArticleOpen Access6 Jul 2021 Genetics in Medicine
Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
- ACMG Board of Directors
ACMG Statement28 Jun 2021 Genetics in Medicine
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
- Emma R. Woodward
- Elke M. van Veen
- D. Gareth Evans
ArticleOpen Access10 Jun 2021 Genetics in Medicine
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
- Anthony R. Gregg
- Mahmoud Aarabi
- ACMG Professional Practice and Guidelines Committee
ACMG Practice Resource20 Jul 2021 Genetics in Medicine
Genome-wide cell-free DNA screening: a focus on copy-number variants
- Jill Rafalko
- Erica Soster
- Philip Cacheris
ArticleOpen Access21 Jun 2021 Genetics in Medicine
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions
- Erwin Birnie
- Juliette Schuurmans
- Adelita V. Ranchor
ArticleOpen Access10 Jun 2021 Genetics in Medicine
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
- Emily Graves Allen
- Krista Charen
- Stephanie L. Sherman
ArticleOpen Access29 Apr 2021 Genetics in Medicine
Reproductive outcomes in individuals with chromosomal reciprocal translocations
- Angela Verdoni
- Jie Hu
- Svetlana A. Yatsenko
Article10 May 2021 Genetics in Medicine
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
- Celine Bris
- David Goudenège
- Vincent Procaccio
Article26 May 2021 Genetics in Medicine
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
- Suzanne C. E. H. Sallevelt
- Alexander P. A. Stegmann
- Aimée D. C. Paulussen
ArticleOpen Access19 Mar 2021 Genetics in Medicine
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
- Paul Wolujewicz
- Vanessa Aguiar-Pulido
- M. Elizabeth Ross
ArticleOpen Access8 Mar 2021 Genetics in Medicine
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study
- Huda B. Al-Kouatly
- Mona M. Makhamreh
- Seth I. Berger
Article8 Mar 2021 Genetics in Medicine
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
- Kris Van Den Bogaert
- Lore Lannoo
- Joris Robert Vermeesch
Article9 Feb 2021 Genetics in Medicine
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes
- Leandra K. Tolusso
- Paige Hazelton
- Daniel T. Swarr
Article13 Jan 2021 Genetics in Medicine
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
- Julie Steffann
- Sophie Monnot
- Jean-Paul Bonnefont
Article11 Dec 2020 Genetics in Medicine
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
- Rebecca A. Rojas
- Anna A. Kutateladze
- Ravikumar Balasubramanian
Article13 Jan 2021 Genetics in Medicine
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
- Noah C. Welker
- Albert K. Lee
- Clement S. Chu
ArticleOpen Access15 Nov 2020 Genetics in Medicine
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort
- Asha N. Talati
- Kelly L. Gilmore
- Neeta L. Vora
Article20 Nov 2020 Genetics in Medicine
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
- Mev Dominguez-Valentin
- Emma J. Crosbie
- Pål Møller
ArticleOpen Access1 Dec 2020 Genetics in Medicine
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology
- Gabriel Lázaro-Muñoz
- Stacey Pereira
- Todd Lencz
Comment27 Oct 2020 Genetics in Medicine
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
- Chen Zhao
- Hongyan Chai
- Peining Li
Article26 Oct 2020 Genetics in Medicine
A systematic review of monogenic etiologies of nonimmune hydrops fetalis
- Andrea M. Quinn
- Breanna N. Valcarcel
- Seth I. Berger
Systematic Review21 Oct 2020 Genetics in Medicine
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
- James S. Acierno
- Cheng Xu
- Nelly Pitteloud
Article29 Jul 2020 Genetics in Medicine
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
- Csilla Krausz
- Antoni Riera-Escamilla
- Frank Tüttelmann
Article3 Aug 2020 Genetics in Medicine
A genomics approach to male infertility
- Naif Alhathal
- Sateesh Maddirevula
- Fowzan S. Alkuraya
Article28 Jul 2020 Genetics in Medicine
Application of exome sequencing for prenatal diagnosis: a rapid scoping review
- Misty Pratt
- Chantelle Garritty
- Christine M. Armour
Systematic Review4 Aug 2020 Genetics in Medicine
Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations
- Nicola Jane Flowers
- Trent Burgess
- Mark Domenic Pertile
Article18 Aug 2020 Genetics in Medicine
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
- Kristjan E. Kaseniit
- Imran S. Haque
- Dale Muzzey
ArticleOpen Access29 Jun 2020 Genetics in Medicine
Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort
- Inge M. M. Lakeman
- Mar Rodríguez-Girondo
- Peter Devilee
ArticleOpen Access6 Jul 2020 Genetics in Medicine
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
- Solveig Heide
- Myrtille Spentchian
- Delphine Héron
Brief Communication22 Jun 2020 Genetics in Medicine
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
- Amber E. L. van Nisselrooij
- Malou A. Lugthart
- Monique C. Haak
ArticleOpen Access28 Apr 2020 Genetics in Medicine
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
- Huiwen Che
- Darine Villela
- Joris Robert Vermeesch
Article6 Feb 2020 Genetics in Medicine
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
- Neeta L. Vora
- Kelly Gilmore
- Bradford C. Powell
Article24 Jan 2020 Genetics in Medicine
The case for banning heritable genome editing
- Jeffrey R. Botkin
Comment21 Nov 2019 Genetics in Medicine
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
- Hila Fridman
- Doron M. Behar
- Ephrat Levy-Lahad
Brief Communication17 Oct 2019 Genetics in Medicine
The genomic and clinical landscape of fetal akinesia
- Matthias Pergande
- Susanne Motameny
- Sebahattin Cirak
Article4 Nov 2019 Genetics in Medicine
Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review
- Sharon J. M. Kessels
- Drew Carter
- Tracy L. Merlin
Systematic Review30 Aug 2019 Genetics in Medicine
Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)
- Julia R. Trosman
- Christine B. Weldon
- Kathryn A. Phillips
Article10 Sep 2019 Genetics in Medicine
Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening
- Minghao Dang
- Hanli Xu
- Yongtao Guan
ArticleOpen Access30 Aug 2019 Genetics in Medicine
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis
- Huilin Wang
- Zirui Dong
- Kwong Wai Choy
Article26 Aug 2019 Genetics in Medicine
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
- Francesca Romana Grati
- Jose Ferreira
- Federico Prefumo
Article8 Aug 2019 Genetics in Medicine
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
- Ken McElreavey
- Anne Jorgensen
- Anu Bashamboo
ArticleOpen Access24 Jul 2019 Genetics in Medicine
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon
- Rocio Rius
- Mark J. Cowley
- John Christodoulou
Brief Communication7 Jun 2019 Genetics in Medicine
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy
- Katharina V. Schulze
- Amit Bhatt
- Neil A. Hanchard
Article17 Apr 2019 Genetics in Medicine
Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies
- Lena Sagi-Dain
- Lital Cohen Vig
- Idit Maya
Article24 May 2019 Genetics in Medicine
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency
- Svetlana A. Yatsenko
- Michelle Wood-Trageser
- Aleksandar Rajkovic
Article5 Apr 2019 Genetics in Medicine
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
- Maayke A. de Koning
- Monique C. Haak
- Gijs W. E. Santen
Article28 Mar 2019 Genetics in Medicine
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations
- Brian G. Skotko
- Megan A. Allyse
- Anthony R. Gregg
Article3 Apr 2019 Genetics in Medicine
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
- Desheng Liang
- David S. Cram
- Lingqian Wu
Article4 Mar 2019 Genetics in Medicine
Commentary: Expanded carrier screening: how much is too much?
- Ronald J. Wapner
- Joseph R. Biggio Jr.
Invited Comment11 Apr 2019 Genetics in Medicine
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
- Michael H. Guo
- Anthony R. Gregg
Article8 Mar 2019 Genetics in Medicine
A data-driven evaluation of the size and content of expanded carrier screening panels
- Rotem Ben-Shachar
- Ashley Svenson
- Dale Muzzey
ArticleOpen Access8 Mar 2019 Genetics in Medicine
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
- Kyle A. Beauchamp
- Katherine A. Johansen Taber
- Dale Muzzey
ArticleOpen Access14 Feb 2019 Genetics in Medicine
Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy
- Lisa Hui
- Briohny Hutchinson
- Jane Halliday
Original Research Article18 May 2017 Genetics in Medicine
Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases
- Mathias Ehrich
- John Tynan
- Jason Chibuk
Original Research Article15 Jun 2017 Genetics in Medicine
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn
- Ashleigh R Pavey
- Dale L Bodian
- Benjamin D Solomon
Original Research Article15 Jun 2017 Genetics in Medicine
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening
- Sylvia A Metcalfe
- Melissa Martyn
- Jon D Emery
Original Research Article29 Jun 2017 Genetics in Medicine
Systematic design and comparison of expanded carrier screening panels
- Kyle A Beauchamp
- Dale Muzzey
- Imran S Haque
Original Research ArticleOpen Access22 Jun 2017 Genetics in Medicine
Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women
- Kim L. McBride
- Jill Pluciniczak
- Dennis Bartholomew
Article10 Jan 2019 Genetics in Medicine
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
- Raul E. Piña-Aguilar
- Sheila A. Simpson
- on behalf of the UK HD Predictive Testing Consortium
Article14 Dec 2018 Genetics in Medicine
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
- Thomas J. Langan
- Joseph J. Orsini
- Randy L. Carter
Article14 Dec 2018 Genetics in Medicine
Nonimmune hydrops fetalis: identifying the underlying genetic etiology
- Teresa N. Sparks
- Kao Thao
- on behalf of the University of California Fetal–Maternal Consortium (UCfC)
Article9 Nov 2018 Genetics in Medicine
Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy
- Daniel Backenroth
- Fouad Zahdeh
- David A. Zeevi
Article19 Nov 2018 Genetics in Medicine
Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates
- Alexandra Peyser
- Tomer Singer
- Avner Hershlag
Article16 Oct 2018 Genetics in Medicine
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies
- Hongcai Cai
- Xingrong Qing
- Xuejun Shang
ArticleOpen Access14 Sep 2018 Genetics in Medicine
The evolving landscape of expanded carrier screening: challenges and opportunities
- Stephanie A. Kraft
- Devan Duenas
- Katrina A. B. Goddard
Review ArticleOpen Access24 Sep 2018 Genetics in Medicine
Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial
- Laura M. Carlson
- Sarah Harris
- Neeta L. Vora
Article14 Sep 2018 Genetics in Medicine
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
- Clémence Delcour
- Larbi Amazit
- Isabelle Beau
Article19 Sep 2018 Genetics in Medicine
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
- Elizabeth Quinlan-Jones
- Jenny Lord
- Mark D. Kilby
ArticleOpen Access8 Oct 2018 Genetics in Medicine
Lessons from the premature adoption of preimplantation embryo testing
- Shizuko Takahashi
- Josephine Johnston
- Pasquale Patrizio
Comment28 Sep 2018 Genetics in Medicine
Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
- Edwin P. Kirk
- Kristine Barlow-Stewart
- Tony Roscioli
Article2 Jul 2018 Genetics in Medicine
Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution
- Amandine Moriot
- Diana Hall
Article3 Aug 2018 Genetics in Medicine
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
- Melissa P. Wasserstein
- Michele Caggana
- Joseph J. Orsini
Article10 Aug 2018 Genetics in Medicine
ZP2 pathogenic variants cause in vitro fertilization failure and female infertility
- Can Dai
- Liang Hu
- Ge Lin
Article12 Jun 2018 Genetics in Medicine
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
- Julie Leclerc
- Cathy Flament
- Marie-Pierre Buisine
Article12 Apr 2018 Genetics in Medicine
Point-of-care whole-exome sequencing of idiopathic male infertility
- Khalid A Fakhro
- Haitham Elbardisi
- Ronald G Crystal
Article12 Apr 2018 Genetics in Medicine
Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
- Glenn E Palomaki
- Edward M Kloza
Systematic Review26 Apr 2018 Genetics in Medicine
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
- Natalie Chandler
- Sunayna Best
- Lyn S Chitty
ArticleOpen Access29 Mar 2018 Genetics in Medicine
Is prenatal genomic testing ready for prime time?
- Margaret P Adam
Invited Comment22 Mar 2018 Genetics in Medicine
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results
- Karin Huijsdens–van Amsterdam
- Roy Straver
- Erik A Sistermans
Brief Communication1 Mar 2018 Genetics in Medicine
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study
- Jean-Marc Costa
- Alexandra Letourneau
- Alexandra Benachi
Article1 Mar 2018 Genetics in Medicine
Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening
- Aarti Ramdaney
- Diane M Dunn
- Nancy C Rose
Letter to the Editor26 Oct 2017 Genetics in Medicine
Informative priors on fetal fraction increase power of the noninvasive prenatal screen
- Hanli Xu
- Shaowei Wang
- Zuhong Lu
ArticleOpen Access9 Nov 2017 Genetics in Medicine
Prenatal reflex DNA screening for trisomies 21, 18, and 13
- Nicholas J Wald
- Wayne J Huttly
- Zarko Alfirevic
ArticleOpen Access9 Nov 2017 Genetics in Medicine
Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?
- Teresa N. Sparks
- Kao Thao
- Mary E. Norton
Original Research Article6 Apr 2017 Genetics in Medicine
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
- Carin L Yates
- Kristin G Monaghan
- Jane Juusola
Original Research Article20 Apr 2017 Genetics in Medicine
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
- Neeta L Vora
- Bradford Powell
- James P Evans
Original Research Article18 May 2017 Genetics in Medicine

Focus on Obstetrics and Gynecology

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