Review
Pathology
Cechuan Deng, Sau Wai Cheung, Hongqian Liu
Summary: Sex chromosome aneuploidies (SCAs) are common chromosome abnormalities in humans, with manifestations including low fertility and delayed development. Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA is increasingly used for screening. This review evaluated published studies on NIPS for SCAs to facilitate a comprehensive understanding and highlighted the potential of NIPS as a primary screening test for various chromosomal abnormalities.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(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
Chemistry, Analytical
Xiaodong Li, Tiantian Wang, Tiantian Xie, Jing Dai, Yibin Zhang, Neng Ling, Junxiao Guo, Chang Li, Xing Sun, Xiaotian Zhang, Ying Peng, Hua Wang, Tianhuan Peng, Mao Ye, Weihong Tan
Summary: The isolation of cfNRBCs from maternal peripheral blood offers a superior strategy for noninvasive prenatal genetic diagnosis. In this study, aptamers specific to NRBCs were developed through clinical sample-based cell-SELEX, enabling the efficient enrichment of cfNRBCs and providing a potential strategy for noninvasive prenatal diagnosis. The results also showed high accuracy in screening for fetal sex and trisomy syndrome through chromosome analysis of enriched cfNRBCs.
ANALYTICAL CHEMISTRY
(2023)
Article
Pediatrics
Cechuan Deng, Jianlong Liu, Sha Liu, Hongqian Liu, Ting Bai, Xiaosha Jing, Tianyu Xia, Yunyun Liu, Jing Cheng, Xiang Wei, Lingling Xing, Yuan Luo, Quanfang Zhou, Qian Zhu, Shanling Liu
Summary: This study aimed to explore the maternal and fetal factors influencing fetal fraction. The results showed that fetal fraction increased with gestational age and decreased with maternal age and BMI. The fetal fraction of fetuses with trisomies 21, 18, and 13 was similar to that of the NIPS-negative group. The z-scores of pregnant women with trisomy 21 and 18 fetuses were positively correlated with fetal fraction.
FRONTIERS IN PEDIATRICS
(2023)
Review
Biotechnology & Applied Microbiology
Yanyu Chen, Zhuhao Wu, Joseph Sutlive, Ke Wu, Lu Mao, Jiabao Nie, Xing-Zhong Zhao, Feng Guo, Zi Chen, Qinqin Huang
Summary: Noninvasive prenatal diagnosis (NIPD) is a method of detecting genetic disorders related to the fetus before birth by analyzing markers in the peripheral blood of pregnant women. Fetal-nucleated red blood cells (fNRBCs) can be used as biomarkers for NIPD due to their unique ability to carry the complete genetic information of the fetus. Recent advances in NIPD technologies are focused on isolating and analyzing fNRBCs, using both conventional and novel methods such as micro-/nanomaterials and microfluidic chips. The identification and clinical diagnostic potential of fNRBCs are also discussed, along with the challenges and future directions of using fNRBCs in NIPD treatment guidelines.
JOURNAL OF NANOBIOTECHNOLOGY
(2022)
Article
Obstetrics & Gynecology
Jing-wei Wang, Yong-nan Lyu, Bin Qiao, Yan Li, Yan Zhang, Pavan Kumar Dhanyamraju, Yevgeniya Bamme, Michael D. Yu, Dongqin Yang, Yong-qing Tong
Summary: The study evaluated the performance of NIPT in different clinical indications, demonstrating extremely high sensitivity and specificity for T21 and providing evidence for other abnormal chromosomal karyotypes.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Review
Genetics & Heredity
Pranav Pandya, Brynn Levy, Erik A. Sistermans
Summary: This article is a written summary of an oral debate presented at the 2023 International Society for Prenatal Diagnosis annual conference in Edinburgh. The topic of debate is whether noninvasive prenatal testing (NIPT) should replace other screening strategies for detecting fetal trisomies. While there is agreement that NIPT is more sensitive and has better predictive values for identifying trisomies compared to traditional screening methods, the debate focuses on the potential adverse consequences of abandoning traditional methods. The main disagreement lies in whether ultrasound should be used strictly for measuring nuchal translucency or if it should be combined with fetal anatomy scans.
PRENATAL DIAGNOSIS
(2023)
Article
Obstetrics & Gynecology
Britton D. Rink, Blair K. Stevens, Mary E. Norton
Summary: Cell-free DNA technology is widely used in screening, diagnosis, and treatment of various diseases. The similarity between placental physiology and tumor development can lead to false-positive results for maternal malignancy in cell-free DNA screening. There is currently no consensus guideline for counseling and evaluation of patients with concerns about malignancy from cell-free DNA testing. Furthermore, laboratories differ in reporting policies and strategies. It is important for ordering practitioners to understand the policies of their chosen laboratory in order to provide appropriate genetic counseling. Pretest counseling should explain the potential for unexpected or nonreportable findings, while posttest counseling should include a discussion of possible fetal or maternal diagnoses, including malignancy.
OBSTETRICS AND GYNECOLOGY
(2022)
Article
Medical Laboratory Technology
Fredrik Persson, Lawrence Prensky
Summary: The variability in determining fetal fraction compared to gold standard methods shows a standard deviation (SD) in the range of 1.3-3.4% fetal fraction (FF). Studies indicate that measuring FF from fragment size and genomic coordinates or single nucleotide polymorphisms had lower variability with a median SD of about 1.6%, while other studies using different methods displayed significantly higher variability.
CLINICAL CHEMISTRY
(2021)
Article
Obstetrics & Gynecology
Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stephane Gatot, Bernard Grisart, Sandra Janssens, Nairi Khudashvili, Lore Lannoo, Axel Marichal, Colombine Meunier, Leonor Palmeira, Ilse Parijs, Bruno Pichon, Ellen Roets, Eva Sammels, Guillaume Smits, Marion Suenaert, Yves Sznajer, Kris Van den Bogaert, Leen Vancoillie, Lotte Vandeputte, Elise Vantroys, Joris Robert Vermeesch, Katrien Janssens
Summary: The study evaluated the accuracy and diagnostic value of genome-wide NIPT for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. The results showed high sensitivity and specificity of NIPT in detecting trisomy in dichorionic-diamniotic twin gestations.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Medical Laboratory Technology
Ellis C. Becking, Jasper Linthorst, Simon Patton, Weronika Gutowska-Ding, Rebecca Goodall, Farrah Khawaja, Fiona Morgan, Zandra Deans, Lyn S. Chitty, Mireille N. Bekker, Peter G. Scheffer, Erik A. Sistermans
Summary: The setting of a minimal fetal fraction (FF) threshold as a quality parameter in noninvasive prenatal testing (NIPT) is debated. This study evaluated the variability in reported FFs between providers and laboratories, as well as within a single laboratory. The findings suggest that the current methods for estimating FF are not reliable or consistent.
CLINICAL CHEMISTRY
(2023)
Article
Obstetrics & Gynecology
Asma Khalil, Rosalyn Archer, Victoria Hutchinson, Hatem A. Mousa, Edward D. Johnstone, Martin J. Cameron, Kelly E. Cohen, Christos Ioannou, Brenda Kelly, Keith Reed, Rachel Hulme, Aris T. Papageorghiou
Summary: In singleton pregnancies, cell-free DNA in maternal blood has shown high detection rate and low false-positive rate for common fetal trisomies. This large multicenter study confirms that cell-free DNA testing is the most accurate screening test for trisomy 21 in twin pregnancies, with very low failure rates. Due to the low false-positive rate, offering first-line screening with cell-free DNA to women with twin pregnancy is appropriate and should be considered a primary screening test for trisomy 21 in twins.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Cell Biology
Chenming Xu, Jianli Li, Songchang Chen, Xiaoqiang Cai, Ruilin Jing, Xiaomei Qin, Dong Pan, Xin Zhao, Dongyang Ma, Xiufeng Xu, Xiaojun Liu, Can Wang, Bingxin Yang, Lanlan Zhang, Shuyuan Li, Yiyao Chen, Nina Pan, Ping Tang, Jieping Song, Nian Liu, Chen Zhang, Zhiwei Zhang, Xiang Qiu, Weiliang Lu, Chunmei Ying, Xiaotian Li, Congjian Xu, Yanlin Wang, Yanting Wu, He-Feng Huang, Jinglan Zhang
Summary: Current non-invasive prenatal screening methods face challenges in detecting fetus-specific genetic variants. This study developed a new sequencing method that accurately separates fetal genome from maternal background, enabling thorough and accurate delineation of fetal genome and paving the way for next-generation prenatal screening.
Review
Health Care Sciences & Services
Giuseppe Gullo, Marco Scaglione, Giovanni Buzzaccarini, Antonio Simone Lagana, Giuseppe Basile, Vito Chiantera, Gaspare Cucinella, Simona Zaami
Summary: Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test used to screen for chromosomal or monogenic pathologies of the fetus. A narrative review of 45 studies was conducted to critically assess its diagnostic value, and it was found to be well-established for screening purposes. The review also highlighted the need for validation studies and discussions involving all stakeholders to address the legal and ethical complexities associated with these techniques.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Genetics & Heredity
Lilian Pok Wa Zhong, Rossa W. K. Chiu
Summary: With the increased use of noninvasive screening for fetal chromosomal aneuploidies, researchers are now focusing on noninvasive prenatal assessment for single-gene disorders. Various methods to analyze cell-free DNA in maternal plasma, including relative mutation dosage, relative haplotype dosage, and size-based methods, have expanded the scope of noninvasive prenatal testing to include sex-linked and autosomal recessive disorders. Recently, cell-free fetal DNA analysis for several prevalent single-gene disorders has been implemented in clinical service.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
(2022)
Review
Obstetrics & Gynecology
Joe L. Simpson, Svetlana Rechitsky
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2020)
Article
Obstetrics & Gynecology
J. M. N. Duffy, H. AlAhwany, S. Bhattacharya, B. Collura, C. Curtis, J. L. H. Evers, R. G. Farquharson, S. Franik, L. C. Giudice, Y. Khalaf, J. M. L. Knijnenburg, B. Leeners, R. S. Legro, S. Lensen, J. C. Vazquez-Niebla, D. Mavrelos, B. W. J. Mol, C. Niederberger, E. H. Y. Ng, A. S. Otter, L. Puscasiu, S. Rautakallio-Hokkanen, S. Repping, I. Sarris, J. L. Simpson, A. Strandell, C. Strawbridge, H. L. Torrance, A. Vail, M. van Wely, M. A. Vercoe, N. L. Vuong, A. Y. Wang, R. Wang, J. Wilkinson, M. A. Youssef, C. M. Farquharg
Summary: A core outcome set has been developed for infertility research, including key indicators related to pregnancy, delivery information, and newborn health. Implementing this core outcome set is expected to improve the interpretability and comparability of infertility research results.
FERTILITY AND STERILITY
(2021)
Article
Obstetrics & Gynecology
J. M. N. Duffy, S. Bhattacharya, M. Bofill, B. Collura, C. Curtis, J. L. H. Evers, L. C. Giudice, R. G. Farquharson, S. Franik, M. Hickey, M. L. Hull, V. Jordan, Y. Khalaf, R. S. Legro, S. Lensen, D. Mavrelos, B. W. Mol, C. Niederberger, E. H. Y. Ng, L. Puscasiu, S. Repping, I. Sarris, M. Showell, A. Strandell, A. Vail, M. van Wely, M. Vercoe, N. L. Vuong, A. Y. Wang, R. Wang, J. Wilkinson, M. A. Youssef, C. M. Farquhar
Summary: Consensus definitions for core outcomes in infertility have been successfully developed through a transparent process involving healthcare professionals and researchers. This standardized approach aims to improve reporting and prevent selective outcome reporting, ultimately benefiting clinical practice and research in the field of infertility.
FERTILITY AND STERILITY
(2021)
Article
Obstetrics & Gynecology
William A. Grobman, Jane Norman, Bo Jacobsson
Summary: Pessary is a device made of synthetic material used for prevention of preterm birth by potentially altering the cervico-uterine angle to reduce cervical compression. However, there is currently insufficient evidence to support pessaries as a standard treatment for preventing preterm birth.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
J. Frederik Froen, Ana Bianchi, Ann-Beth Moller, Bo Jacobsson
Summary: FIGO calls for strengthening of health information systems and investments for implementing digital registries, ensuring timely access to high-quality data for all stakeholders, and enhancing the science of implementation and use of registries.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Ben W. Mol, Bo Jacobsson, William A. Grobman, Kelle Moley
Summary: FIGO supports the use of assisted reproductive technologies for achieving pregnancy but stresses the importance of considering the increased risk of preterm birth. Single embryo transfer is recommended to reduce the risk of preterm birth in IVF cycles.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Catalina M. Valencia, Ben W. Mol, Bo Jacobsson
Summary: Iatrogenic preterm birth is a planned delivery before 37 weeks of gestation due to maternal and/or fetal causes, with efforts to identify modifiable causes and formulate preventive strategies. Recommendations include reducing multiple pregnancies, unnecessary cesarean sections, ensuring appropriate delivery timing, and strengthening education and communication.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Ana Bianchi, Bo Jacobsson, Ben W. Mol
Summary: Delayed cord clamping in the first minute post-birth benefits preterm infants and potentially term-born babies. However, optimal duration of delay remains unclear, with current evidence supporting not clamping the cord before 30 seconds for preterm births. Future trials could explore different lengths of delay, while a period of 30 seconds to 3 minutes appears justified for term-born babies.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Andrew Shennan, Lisa Story, Bo Jacobsson, William A. Grobman
Summary: Cervical cerclage can prevent preterm birth and fetal losses in the right candidates. It is recommended based on a woman's history and cervical length. For high-risk women with exposed membranes through the cervical os, a rescue cerclage may be considered.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Jane Norman, Andrew Shennan, Bo Jacobsson, Sarah J. Stock
Summary: For women with singleton or multiple pregnancies between 24 and 34 weeks gestation where active neonatal care is necessary, one course of prenatal corticosteroids should be offered ideally 18 to 72 hours before anticipated preterm birth to improve outcomes for the baby. Prenatal corticosteroids should not be routinely offered to women anticipating late preterm birth between 34 and 36 weeks.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Article
Obstetrics & Gynecology
Andrew Shennan, Natalie Suff, Joe Leigh Simpson, Bo Jacobsson, Ben W. Mol, William A. Grobman
Summary: For women at high risk of preterm birth, particularly those with a significant history of previous preterm birth and a short cervix, vaginal progesterone treatment is recommended. However, for those where the effectiveness of progesterone is uncertain, it is not advised.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Editorial Material
Obstetrics & Gynecology
Bo Jacobsson, Joe Leigh Simpson
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2021)
Editorial Material
Obstetrics & Gynecology
Mary E. Norton
Summary: This study found that administering progesterone to pregnant women can reduce the rate of preterm birth before 37 weeks in high-risk singleton pregnancies, but the effect is inconclusive for twin pregnancies. Additionally, 17-OHPC in multifetal gestations may lead to an increase in preterm premature rupture of membranes.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2021)
Review
Obstetrics & Gynecology
D. Leigh, D. S. Cram, S. Rechitsky, A. Handyside, D. Wells, S. Munne, S. Kahraman, J. Grifo, M. Katz-Jaffe, C. Rubio, M. Viotti, E. Forman, K. Xu, T. Gordon, S. Madjunkova, J. Qiao, Z-J Chen, G. Harton, L. Gianaroli, C. Simon, R. Scott, J. L. Simpson, A. Kuliev
Summary: Chromosome testing strategies, such as PGT-A, improve initial IVF outcomes by avoiding transfer of aneuploid embryos. Newer technologies have revealed trophectoderm mosaicism in embryos with intermediate copy number results. The transfer of mosaic embryos may be associated with increased implantation failure and miscarriage rates.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Medicine, General & Internal
Lesley A. Stewart, Mark Simmonds, Lelia Duley, Alexis Llewellyn, Sahar Sharif, Ruth A. E. Walker, Lucy Beresford, Kath Wright, Mona M. Aboulghar, Zarko Alfirevic, Azam Azargoonc, Rashmi Bagga, Elham Bahrami, Sean C. Blackwell, Steve N. Caritis, C. Andrew Combs, Jennifer M. Croswell, Caroline A. Crowther, Anita F. Das, Kay Dickersin, Kristina C. Dietz, Andrew Elimian, William A. Grobman, Alexander Hodkinson, Kimberley A. Maurel, David S. McKenna, Ben W. Mol, Kelle Moley, Jamie Mueller, Anwar Nassar, Jane E. Norman, John Norrie, John M. O'Brien, Raphael Porcher, Shalini Rajaram, Line Rode, Dwight J. Rouse, Carol Sakala, Ewoud Schuit, Marie-Victoire Senat, Sahar Sharif, Mark Simmonds, Joe L. Simpson, Katherine Smith, Anne Tabor, Elizabeth A. Thom, Melanie A. van Os, Evelyn P. Whitlock, Stephen Wood, Tom Walley
Summary: This meta-analysis found that in high-risk singleton pregnancies, vaginal progesterone and 17-OHPC both reduced the risk of preterm birth before 34 weeks. However, evidence is insufficient to support the use of oral progesterone. The treatment of unselected multifetal pregnancies with a progestogen is not supported by the evidence.