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"Prenatal Screening"

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https://www.readbyqxmd.com/read/29335907/content-of-first-prenatal-visits
#1
J Dyer, G Latendresse, E Cole, J Coleman, E Rothwell
Objective The purpose of this study was to examine the content of the first prenatal visit within an academic medical center clinic and to compare the topics discussed to 2014 American College of Obstetrics and Gynecologists guidelines for the initial prenatal visit. Methods Clinical interactions were audio recorded and transcribed (n = 30). A content analysis was used to identify topics discussed during the initial prenatal visit. Topics discussed were then compared to the 2014 ACOG guidelines for adherence...
January 15, 2018: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#2
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29319592/primary-prenatal-care-screening-prevention-and-treatment-of-viral-infections
#3
Alexandra Spadola
Prenatal care providers are responsible for a basic understanding of the viral contagions that place women and fetal well-being at risk during pregnancy. This article reviews the evidence-based routine prenatal screening guidelines for previously unrecognized maternal infection, counseling toward risk reduction, recommended maternal immunizations, and the management of maternal and fetal complications of some viral exposures and infections.
March 2018: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29318630/conflict-of-interest-related-to-clinical-practice-is-under-reported-the-case-of-non-invasive-prenatal-testing
#4
Adam J Wolfberg
Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in Obstetrics and Gynecology and the American Journal of Obstetrics and Gynecology, again, without acknowledgement of the potential for conflict of interest. The case of non-invasive prenatal testing, which has threatened the role of maternal-fetal medicine in the practice of prenatal screening and diagnosis, and has significantly reduced the demand for invasive prenatal diagnosis, illustrates the importance of identifying this potential conflict...
January 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314147/cfdna-screening-and-diagnosis-of-monogenic-disorders-where-are-we-heading
#5
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/29304904/liquid-biopsy-from-basic-research-to-clinical-practice
#6
Mónica Macías, Estibaliz Alegre, Angel Díaz-Lagares, Ana Patiño, Jose L Pérez-Gracia, Miguel Sanmamed, Rafael López-López, Nerea Varo, Alvaro González
Liquid biopsy refers to the molecular analysis in biological fluids of nucleic acids, subcellular structures, especially exosomes, and, in the context of cancer, circulating tumor cells. In the last 10 years, there has been an intensive research in liquid biopsy to achieve a less invasive and more precise personalized medicine. Molecular assessment of these circulating biomarkers can complement or even surrogate tissue biopsy. Because of this research, liquid biopsy has been introduced in clinical practice, especially in oncology, prenatal screening, and transplantation...
2018: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/29249015/cost-effectiveness-of-cell-free-dna-in-maternal-blood-testing-for-prenatal-detection-of-trisomy-21-18-and-13-a-systematic-review
#7
Lidia García-Pérez, Renata Linertová, Margarita Álvarez-de-la-Rosa, Juan Carlos Bayón, Iñaki Imaz-Iglesia, Jorge Ferrer-Rodríguez, Pedro Serrano-Aguilar
The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies...
December 16, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/29247311/implementing-group-prenatal-counseling-for-expanded-noninvasive-screening-options
#8
Betsy L Gammon, Laura Otto, Myra Wick, Kristy Borowski, Megan Allyse
Recently, practices have begun integrating cell-free DNA-based noninvasive prenatal screening as a screening option for a variety of genetic conditions. According to the National Society of Genetic Counselors, the integration of cfDNA screening into clinical prenatal practice may "significantly shift the paradigm of prenatal testing and screening for all women." The purpose of this study was to determine whether group information sessions can feasibly serve as an alternative to extended one-on-one genetic counseling for the increasing number of women making decisions about prenatal testing and screening...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29221193/steroidogenic-factor-1-hypermethylation-in-maternal-rat-blood-could-serve-as-a-biomarker-for-intrauterine-growth-retardation
#9
Dong-Mei Wu, Liang-Peng Ma, Gui-Li Song, Yong Long, Han-Xiao Liu, Yang Liu, Jie Ping
Intrauterine growth retardation (IUGR) is a common obstetric complication lacking an optimal method for prenatal screening. DNA methylation profile in maternal blood holds significant promise for prenatal screening. Here, we aimed to screen out potential IUGR biomarkers in maternal blood from the perspective of DNA methylation. The IUGR rat model was established by prenatal maternal undernutrition. High-throughput bisulfite sequencing of genomic DNA methylation followed by functional clustering analysis for differentially methylated region (DMR)-associated genes demonstrated that genes regulating transcription had the most significantly changed DNA methylation status in maternal blood with IUGR...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29216774/chinese-fetal-biometry-reference-equations-and-comparison-with-charts-from-other-populations
#10
Yixiu Zhang, Hua Meng, Yuxin Jiang, Zhonghui Xu, Yunshu Ouyang, Shengli Li, Qian Chen, Qingqing Wu, Rui Li, Tong Ru, Aailu Cai, Xinlin Chen, Taizhu Yang, Ping Chen, Hongning Xie, Hong Lu, Qing Dai, Fen Dong, Meng Yang, Xiao Yang, Jia Lu, Jiawei Tian, Kun Sun, Hui Li
OBJECTIVE: This study aimed to construct new reference charts and equations for fetal biometry from Chinese fetuses at 15-40 weeks and to compare them with previous references. METHOD: This was a prospective, cross-sectional study of singleton pregnancies in patients with a confirmed gestational age who underwent ultrasound examinations between the 15th and 40th weeks of gestation. Each woman was selected only once for this study. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL) were recorded...
December 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
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/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#12
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/29207734/prenatal-screening-for-rare-co-inheritance-of-hbe-and-%C3%AE-thalassaemia-traits-in-western-india
#13
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29199274/recent-developments-in-genetics-and-medically-assisted-reproduction-from-research-to-clinical-applications
#14
REVIEW
J C Harper, K Aittomäki, P Borry, M C Cornel, G de Wert, W Dondorp, J Geraedts, L Gianaroli, K Ketterson, I Liebaers, K Lundin, H Mertes, M Morris, G Pennings, K Sermon, C Spits, S Soini, A P A van Montfoort, A Veiga, J R Vermeesch, S Viville, M Macek
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing...
December 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29194566/national-screening-guidelines-and-developments-in-prenatal-diagnoses-and-live-births-of-down-syndrome-in-the-period-1973-2016-in-denmark
#15
Stina Lou, Olav Bjørn Petersen, Finn Stener Jørgensen, Ida Charlotte Bay Lund, Susanne Kjaergaard, Ida Vogel
Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (> 90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing a comprehensive, national prenatal screening guideline. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark MATERIAL AND METHODS: Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry RESULTS: From 1973-1993 screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures...
December 1, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#16
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#17
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#18
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29179272/-analysis-of-non-invasive-prenatal-screening-detection-in-fetal-chromosome-aneuploidy
#19
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
https://www.readbyqxmd.com/read/29171894/the-future-of-reproductive-autonomy
#20
Josephine Johnston, Rachel L Zacharias
In a project The Hastings Center is now running on the future of prenatal testing, we are encountering clear examples, both in established law and in the practices of individual providers, of failures to respect women's reproductive autonomy: when testing is not offered to certain demographics of women, for instance, or when the choices of women to terminate or continue pregnancies are prohibited or otherwise not supported. But this project also raises puzzles for reproductive autonomy. We have learned that some clinicians and patients do not discuss the fact that prenatal testing can lead to a decision about whether to terminate a pregnancy-they just don't talk about it...
December 2017: Hastings Center Report
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