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https://www.readbyqxmd.com/read/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#1
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#2
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29731786/an-update-work-of-pulse-oximetry-screening-for-detecting-critical-congenital-heart-disease-in-the-newborn
#3
A Taksande, R Meshram, A Lohakare, S Purandare, U Biyani, J Vagha
Background: Congenital Heart Disease (CHD) is the commonest group of congenital malformations and affects 7-8 per 1000 live born newborns. Nevertheless, it is estimated that more than 50% of babies with undiagnosed CHD are not detected by routine neonatal cardiac examination. Aim: To find the incidence of CHD in newborns and to determine the accuracy of pulse oximetry for detecting clinically unrecognized critical congenital heart disease (CCHD) in the newborns...
July 2017: Images in Paediatric Cardiology
https://www.readbyqxmd.com/read/29718004/update-on-diagnosis-and-management-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#4
Perrin C White
PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagnosis...
June 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29706556/liquid-biopsies-dna-methylation-analyses-in-circulating-cell-free-dna
#5
REVIEW
Hu Zeng, Bo He, Chengqi Yi, Jinying Peng
Analysis of patient's materials like cells or nucleic acids obtained in a minimally invasive or noninvasive manner through the sampling of blood or other body fluids serves as liquid biopsies, which has huge potential for numerous diagnostic applications. Circulating cell-free DNA (cfDNA) is explored as a prognostic or predictive marker of liquid biopsies with the improvements in genomic and molecular methods. DNA methylation is an important epigenetic marker known to affect gene expression. cfDNA methylation detection is a very promising approach as abnormal distribution of DNA methylation is one of the hallmarks of many cancers and methylation changes occur early during carcinogenesis...
March 8, 2018: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29542187/multiplex-pcr-in-noninvasive-prenatal-diagnosis-for-fgfr3-related-disorders
#6
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29479265/pulse-oximetry-screening-in-newborns-to-enhance-detection-of-critical-congenital-heart-disease
#7
Michael Narvey, Kenny K Wong, Anne Fournier
Pulse oximetry screening is safe, noninvasive, easy to perform and proven to enhance detection of critical congenital heart disease in newborns. However, this test has yet to be adopted as routine practice in Canada. The present practice point highlights essential details and recommendations for screening, which research has shown to be highly specific, with low false-positive rates. Optimal screening for critical congenital heart disease should include prenatal ultrasound, physical examination and pulse oximetry screening...
November 2017: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29458877/1p-deletion-syndrome-a-prenatal-diagnosis-characterized-by-an-abnormal-1st-trimester-combined-screening-test-yet-a-normal-nipt-result
#8
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#9
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29402153/psychological-factors-influencing-choice-of-prenatal-diagnosis-in-chinese-multiparous-women-with-advanced-maternal-age
#10
Bi-Heng Cheng, Jian-Hua Chen, Gao-Hua Wang
OBJECTIVES: To investigate the psychological predictors in Chinese multiparous pregnant women of advanced maternal age (AMA) for choosing aneuploidy screening or diagnostic testing. METHODS: A total of 84 pregnant women of AMA were consecutively enrolled from Renming Hospital, Wuhan University. All participants completed three questionnaires: Zung Self-Rating Anxiety Scale (SAS), Zung Self-Rating Depression Scale (SDS), and Pregnancy Stress Rating Scale (PSRS). Demographic information and the choice of noninvasive prenatal testing (NIPT) versus invasive prenatal diagnosis (PND) were also collected...
February 5, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29380343/prenatal-diagnosis-and-socioeconomic-status-in-the-non-invasive-prenatal-testing-era-a-population-based-study
#11
Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday
BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AIM: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. METHODS: Retrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria...
January 30, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29377389/modified-methylated-dna-immunoprecipitation-protocol-for-noninvasive-prenatal-diagnosis-of-down-syndrome
#12
Fatemeh Karami, Mohammad R Noori-Daloii, Kobra Omidfar, Mina Tabrizi, Seddigheh Hantooshzadeh, Ashraf Aleyasin, Maryam Daneshpour, Mohammad H Modarressi
AIM: Methylated DNA immunoprecipitation real-time quantitative polymerase chain reaction (MeDIP-real-time qPCR) has been introduced as noninvasive prenatal test that has shown absolute detection rate in the screening of Down syndrome. Herein, we aimed to propose a novel modification of MeDIP-qPCR and assess its potential to alleviate the overall cost of the test, being used in very early weeks of pregnancy, and develop it to a noninvasive prenatal diagnosis biosensor in future researches...
April 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29317692/haplotype-based-noninvasive-prenatal-diagnosis-of-hyperphenylalaninemia-through-targeted-sequencing-of-maternal-plasma
#13
Jun Ye, Chao Chen, Yuan Yuan, Lianshu Han, Yaoshen Wang, Wenjuan Qiu, Huiwen Zhang, Asan, Xuefan Gu
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase (PAH) and 6-pyruvoyltetrahydropterin (PTS) and its coding region to determine the parental haplotypes and linkage to pathogenic mutations...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29301182/diagnostic-and-therapeutic-considerations-in-turner-syndrome
#14
REVIEW
Seung Yang
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29241910/prenatal-diagnosis-of-down-syndrome-a-13-year-retrospective-study
#15
Ana Vičić, Tomislav Hafner, Ivanka Bekavac Vlatković, Petra Korać, Dubravko Habek, Feodora Stipoljev
OBJECTIVE: The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome. MATERIALS AND METHODS: The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002-2014) in a single tertiary center. RESULTS: The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#16
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/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#17
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29097507/noninvasive-prenatal-diagnosis-of-single-gene-disorders-by-use-of-droplet-digital-pcr
#18
Joan Camunas-Soler, Hojae Lee, Louanne Hudgins, Susan R Hintz, Yair J Blumenfeld, Yasser Y El-Sayed, Stephen R Quake
BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS: We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma...
February 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29037564/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-21-with-rare-karyotype-detected-by-noninvasive-prenatal-testing
#19
Hong Wu, Zong-Yu Miao, Xiao-Fei Hou, Xiao-Yan Liu, Hui-Yuan Shao
No abstract text is available yet for this article.
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037559/noninvasive-prenatal-diagnosis-for-x-linked-disease-by-maternal-plasma-sequencing-in-a-family-of-hemophilia-b
#20
Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
OBJECTIVE: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. CASE REPORT: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and revealed a causative F9 gene mutation (c.190T>C, p...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
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