Article
Obstetrics & Gynecology
Ruth M. Farrell, Madelyn Pierce, Christina Collart, Meng Yao, Marissa Coleridge, Edward K. Chien, Susannah S. Rose, Mary Lintel, Uma Perni, Brownsyne Tucker Edmonds
Summary: "The study evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. Participants had similar familiarity with the concepts associated with AS compared to CS, with a preference to learn about a range of conditions. Decision-making preference shifted with the complexity of the panel, calling for innovative approaches to support pregnant patients' decision-making."
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Medical Laboratory Technology
Kuo Zhang, Guigao Lin, Jinming Li
Summary: Genetic carrier screening has been introduced 50 years ago and has since been improved. It now allows for multi-disease and pan-ethnic screening, although challenges remain in evaluating gene inclusion criteria, classifying the severity of genetic conditions, understanding clinical validity of gene-disease association and variant classification, and minimizing residual risks.
CLINICA CHIMICA ACTA
(2022)
Article
Biochemistry & Molecular Biology
Qiwei Guo, Yih-Yuan Chang, Chien-Hao Huang, Yu-Shan Hsiao, Yu-Chiao Hsiao, I-Fan Chiu, Yulin Zhou, Haixia Zhang, Tsang-Ming Ko
Summary: Carrier screening and prenatal diagnosis are essential for intervention in specific populations. The study confirmed the validity of the current threshold of CGG trinucleotide repeats for FMR1 categorization and the protective effect of AGG interruption in East Asian populations. Family history was shown not to be an effective indicator for FXS carrier screening in East Asian populations, and population-based screening was more cost-effective. This study provides insight into the largest carrier screening and prenatal diagnosis for FXS in East Asian populations and highlights the promising role of population-based carrier screening in FXS intervention.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Genetics & Heredity
Carmen M. Avram, Alexandria L. Dyer, Brian L. Shaffer, Aaron B. Caughey
Summary: The study compared the cost-effectiveness of three different prenatal cystic fibrosis (CF) carrier screening strategies. Sequencing both partners identified more carrier couples, but did not reach the cost-effectiveness threshold compared to the other strategies.
PRENATAL DIAGNOSIS
(2021)
Article
Obstetrics & Gynecology
Michelle J. Bayefsky, Arthur L. Caplan, Iffath A. Hoskins
Summary: The article highlights the public attention on the commercial availability of noninvasive prenatal screening and the importance of educating patients, as well as advocates for using established public health criteria to evaluate expanded noninvasive prenatal screening.
OBSTETRICS AND GYNECOLOGY
(2022)
Article
Genetics & Heredity
Manesha Putra, Kristjan Eerik Kaseniit, Melissa A. Hicks, Dale Muzzey, David Hackney
Summary: Carriers of pathogenic variants in the HBB gene are more likely to have lower fetal fraction (FF), while carriers of HBA1/HBA2 genes show no difference in FF.
PRENATAL DIAGNOSIS
(2022)
Article
Education, Scientific Disciplines
Cheryl Mensah, Sujit Sheth
Summary: Thalassemias are inherited disorders of hemoglobin synthesis with a wide spectrum of disease severity. This article discusses the importance of screening carriers, prenatal and newborn babies for thalassemia, as well as the deficiencies in current screening programs. With the advancement of genetic testing, population-based implementation of this strategy may be the most practical method in the future for identifying individuals at risk and prospective parents.
HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM
(2021)
Article
Genetics & Heredity
Hui Xi, Wanqin Xie, Jing Chen, Wanglan Tang, Xiuli Deng, Hua Li, Ying Peng, Dan Wang, Shuting Yang, Yanan Zhang, Ranhui Duan, Junqun Fang, Hua Wang
Summary: The study found that implementing FXS carrier screening during prenatal diagnosis is feasible and may help increase the screening rate for FXS. Different types of FXS mutations were identified in pregnant women who participated in the screening, but none of the premutation alleles were inherited by the fetuses.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
So-Yun Yang, Kyung Min Kang, Sook-Young Kim, Seo Young Lim, Hee Yeon Jang, Kirim Hong, Dong Hyun Cha, Sung Han Shim, Je-Gun Joung
Summary: This study aims to improve the accuracy of non-invasive prenatal testing (NIPT) by combining multiple methods, which offers a promising approach for predicting chromosomal abnormalities.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Editorial Material
Biochemistry & Molecular Biology
Diana W. Bianchi
Summary: Traditionally, prenatal testing has focused on using imaging to assess fetal anatomy. However, measuring mRNA transcripts in maternal blood can provide a more precise evaluation of fetal function, helping identify pregnancies that require closer monitoring and babies that should be delivered in special care settings.
TRENDS IN MOLECULAR MEDICINE
(2021)
Article
Obstetrics & Gynecology
Nicholas R. Burns, Teodora Kolarova, Ronit Katz, Kimberly Ma, Shani Delaney
Summary: The study aims to reevaluate the relationship between maternal race and maternal serum AFP values in prenatal analyte screening. It was found that there was no difference in maternal serum AFP values between Black and non-Black pregnant individuals when adjusted for maternal weight and gestational age at blood draw. Therefore, routine race-based adjustment of maternal serum AFP screening should be discontinued.
OBSTETRICS AND GYNECOLOGY
(2023)
Article
Genetics & Heredity
Kimberly Martin, Pe ' er Dar, Cora MacPherson, Melissa Egbert, Zachary Demko, Sheetal Parmar, Katelyn Hashimoto, Sina Haeri, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Noel Strong, Robert M. Silver, Nidhi Vohra, Jon Hyett, Matt Rabinowitz, Charlly Kao, Hakon Hakonarson, Bo Jacobsson, Mary E. Norton
Summary: This study aimed to evaluate the performance of cfDNA screening for sex chromosome aneuploidies in an unselected obstetrical population with genetic confirmation. The results showed that cfDNA had comparable performance for detecting sex chromosome aneuploidies as reported in other studies. The accuracy of fetal sex prediction by cfDNA was 100%.
GENETICS IN MEDICINE
(2023)
Article
Obstetrics & Gynecology
Julia Silver, Mary E. Norton
Summary: The use of expanded carrier screening, which can test for hundreds of genetic disorders at the same time, presents challenges and complexities due to the limited knowledge of genetic sequencing among front-line obstetric health care professionals. Urgent attention is required to address issues such as reclassification of variants, pretest and posttest counseling, and the responsibilities of health care professionals in ensuring patients understand the process of variant interpretation.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Genetics & Heredity
Xiaosha Jing, Hongqian Liu, Qian Zhu, Sha Liu, Jianlong Liu, Ting Bai, Cechuan Deng, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Lin Chen, Lingping Li, Jiamin Wang
Summary: This study evaluated prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results. The results showed that QF-PCR can quickly and accurately identify common aneuploidies, and when combined with karyotyping and CNV detection techniques, can provide more comprehensive results. In cases of sex chromosome aneuploidy (SCA) or other abnormalities, CMA and CNVseq may increase the detection rate. The addition of fluorescence in situ hybridization assay may help identify true fetal mosaicism.
FRONTIERS IN GENETICS
(2022)
Review
Acoustics
E. Lesieur, S. Zaffran, R. Chaoui, E. Quarello
Summary: Congenital pulmonary artery anomalies are rare and require good knowledge of fetal cardiac anatomy for antenatal diagnosis. Screening can be straightforward or less obvious depending on the associated consequences. This study proposed a classification and screening method for pulmonary artery anomalies based on 14 cases. Differentiating the three-vessel view from the three-vessel-and-trachea view is essential for assessing a fetus with a congenital pulmonary artery anomaly.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Genetics & Heredity
Caroline E. Ghiossi, James D. Goldberg, Imran S. Haque, Gabriel A. Lazarin, Kenny K. Wong
JOURNAL OF GENETIC COUNSELING
(2018)
Article
Obstetrics & Gynecology
Alan T. N. Tita, Kathleen A. Jablonski, Jennifer L. Bailit, William A. Grobman, Ronald J. Wapner, Uma M. Reddy, Michael W. Varner, John M. Thorp, Kenneth J. Leveno, Steve N. Caritis, Jay D. Iams, George Saade, Yoram Sorokin, Dwight J. Rouse, Sean C. Blackwell, Jorge E. Tolosa
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2018)
Article
Obstetrics & Gynecology
Katherine L. Grantz, Sungduk Kim, William A. Grobman, Roger Newman, John Owen, Daniel Skupski, Jagteshwar Grewal, Edward K. Chien, Deborah A. Wing, Ronald J. Wapner, Angela C. Ranzini, Michael P. Nageotte, Stefanie N. Hinkle, Sarah Pugh, Hanyun Li, Karin Fuchs, Mary Hediger, Germaine M. Buck Louis, Paul S. Albert
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2018)
Article
Obstetrics & Gynecology
Erin A. S. Clark, Steven J. Weiner, Dwight J. Rouse, Brian M. Mercer, Uma M. Reddy, Jay D. Iams, Ronald J. Wapner, Yoram Sorokin, Fergal D. Malone, Mary J. O'Sullivan, Alan M. Peaceman, Gary D. V. Hankins, Donald J. Dudley, Steve N. Caritis
AMERICAN JOURNAL OF PERINATOLOGY
(2018)
Article
Public, Environmental & Occupational Health
Cande V. Ananth, Marianthi-Anna Kioumourtzoglou, Yongmei Huang, Zev Ross, Alexander M. Friedman, Michelle A. Williams, Shuang Wang, Murray A. Mittleman, Joel Schwartz
Article
Obstetrics & Gynecology
Mark B. Landon, Lisa Mele, Michael W. Varner, Brian M. Casey, Uma M. Reddy, Ronald J. Wapner, Dwight J. Rouse, Alan T. N. Tita, John M. Thorp, Edward K. Chien, George Saade, William Grobman, Sean C. Blackwell, J. Peter VanDorsten, F. Johnson, S. Wylie, D. Habash, S. Heintzman, E. Nini, J. Iams, C. Durnwald, K. Hill, M. Thompson, A. Sowles, G. Anderson, L. Moseley, J. Price, A. Sias, K. Gonzales, Y. Delira, M. Talucci, V. Carmona, I. Quezada, A. Ranzini, M. Lake, S. Davis, M. Hoffman, S. Lynch, J. Benson, C. Kitto, L. Plante, C. Kitto, L. Plante, C. Tocci, Y. Williams, D. Allard, B. Anderson, K. Pereda, E. Hipolito, J. McNamara, S. Harris, J. Biggio, A. McClain, J. Sheppard, K. Clark, B. Eucker, S. Timlin, K. Pena, T. Varney, W. Dalton, C. Milluzzi, P. Catalano, B. Mercer, A. Salazar, A. Acosta, S. Bouse, G. Hankins, S. Jain, G. Mallet, M. Ramos-Brinson, C. Collins, L. Stein, A. Peaceman, M. Dinsmoor, F. Ortiz, B. Sibai, B. Rech, L. Garcia, E. Thom, M. Rice, L. Doherty, T. Spangler, C. Spong, S. Tolivaisa
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2020)
Article
Genetics & Heredity
Preeya Desai, Hannah Haber, Jessica Bulafka, Amita Russell, Rebecca Clifton, Julia Zachary, Seonjoo Lee, Tianshu Feng, Ronald Wapner, Catherine Monk, Wendy K. Chung
PRENATAL DIAGNOSIS
(2018)
Article
Obstetrics & Gynecology
Jennifer Danielsson, Joy Vink, Shunsuke Hyuga, Xiao Wen Fu, Hiromi Funayama, Ronald Wapner, Andrew M. Blanks, George Gallos
REPRODUCTIVE SCIENCES
(2018)
Article
Pediatrics
Cuilin Zhang, Mary L. Hediger, Paul S. Albert, Jagteshwar Grewal, Anthony Sciscione, William A. Grobman, Deborah A. Wing, Roger B. Newman, Ronald Wapner, Mary E. D'Alton, Daniel Skupski, Michael P. Nageotte, Angela C. Ranzini, John Owen, Edward K. Chien, Sabrina Craigo, Sungduk Kim, Katherine L. Grantz, Germaine M. Buck Louis
Article
Genetics & Heredity
Katherine A. Johansen Taber, Kyle A. Beauchamp, Gabriel A. Lazarin, Dale Muzzey, Aishwarya Arjunan, James D. Goldberg
GENETICS IN MEDICINE
(2019)
Article
Obstetrics & Gynecology
Lynn M. Yee, Paula McGee, Jennifer L. Bailit, Uma M. Reddy, Ronald J. Wapner, Michael W. Varner, John M. Thorp, Kenneth J. Leveno, Steve N. Caritis, Mona Prasad, Alan T. N. Tita, George Saade, Yoram Sorokin, Dwight J. Rouse, Sean C. Blackwell, Jorge E. Tolosa
OBSTETRICS AND GYNECOLOGY
(2019)
Article
Obstetrics & Gynecology
Michelle A. Kominiarek, Marcela C. Smid, Lisa Mele, Brian M. Casey, Yoram Sorokin, Uma M. Reddy, Ronald J. Wapner, John M. Thorp, George R. Saade, Alan T. N. Tita, Dwight J. Rouse, Baha Sibai, Jay D. Iams, Brian M. Mercer, Jorge Tolosa, Steve N. Caritis
OBSTETRICS AND GYNECOLOGY
(2018)
Article
Health Care Sciences & Services
Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabriel A. Lazarin, Elizabeth Denne, Dale Muzzey, Carrie Haverty
TELEMEDICINE AND E-HEALTH
(2020)
Review
Genetics & Heredity
Riwa Sabbagh, Ignatia B. Van den Veyver
Editorial Material
Obstetrics & Gynecology
M. M. Costantine
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2020)
