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Fabiana Cro', Cristina Lapucci, Emilio Vicari, Ginevra Salsi, Nicola Rizzo, Antonio Farina
OBJECTIVE: The aim of this study was to present a new method for fetal Kell genotyping by means of the allelic discrimination of K1 and K2 in real-time polymerase chain reaction (PCR). METHODS: Real-time quantitative polymerase chain reaction incorporating an allele-specific primer was developed for detecting the K allele of KEL. RESULTS: By means of this method, the K1/K2 genotype was able to be determined in all blood samples analyzed. Results using cell-free fetal DNA (cffDNA) from two Kell-negative pregnant women confirmed the Kell-positive genotype of fetuses...
October 11, 2016: American Journal of Reproductive Immunology: AJRI
Xiongbin Kang, Jun Xia, Yicong Wang, Huixin Xu, Haojun Jiang, Weiwei Xie, Fang Chen, Peng Zeng, Xuchao Li, Yifan Xie, Hongtai Liu, Guodong Huang, Dayang Chen, Ping Liu, Hui Jiang, Xiuqing Zhang
BACKGROUND: With the speedy development of sequencing technologies, noninvasive prenatal testing (NIPT) has been widely applied in clinical practice for testing for fetal aneuploidy. The cell-free fetal DNA (cffDNA) concentration in maternal plasma is the most critical parameter for this technology because it affects the accuracy of NIPT-based sequencing for fetal trisomies 21, 18 and 13. Several approaches have been developed to calculate the cffDNA fraction of the total cell-free DNA in the maternal plasma...
2016: PloS One
Semir Kose, Dilek Cımrın, Nuri Yıldırım, Ozge Aksel, Pembe Keskinoglu, Elcin Bora, Tufan Cankaya, Sabahattin Altunyurt
OBJECTIVE: To survey experience with the first-trimester combined test (FCT) for trisomy 21 (T21) in different risk score groups to determine the most useful clinical application of cell-free fetal DNA (cffDNA) screening. METHODS: In a retrospective study, the records of FCT results obtained at a center in Turkey between January 2009 and January 2014 were reviewed. The FCT results and rates of uptake of invasive diagnostic testing were compared among different risk score groups...
November 2016: International Journal of Gynaecology and Obstetrics
Ling Ma, Yan-Chun Liu, Ruo-Yang Zhang, Xiao-Yu Zhou, Jing-Ming Xun
OBJECTIVE: To investigate the feasibility of noninvasive fetal ABO genotyping based on RASSF1A gene with circulating cell-free fetal DNA(cffDNA) from maternal plasma. METHODS: DNA was extracted from the O group pregnant plasma, and the presence of cffDNA was confirmed by fetal DNA maker SRY and RASSF1A. B and non-O were detected by real-time PCR, and the genotyping results were evaluated by using the serologic tests for ABO phenotyping. RESULTS: Among the samples of 20 cases, the SRY was found in 11 cases by detecteion, the detection results were consistent with sex of infants after delivery; the RASSF1A was amplified all in samples of other 9 cases after BstU1 cleavage, which confirmed existance of cffDNA...
August 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
Jing Liu, Hao Hu, Na Ma, Zhengjun Jia, Yuchun Zhou, Jiancheng Hu, Hua Wang
BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications. CASE PRESENTATION: A 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 25(3/7) weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound...
2016: Molecular Cytogenetics
Ting Wang, Quanze He, Haibo Li, Jie Ding, Ping Wen, Qin Zhang, Jingjing Xiang, Qiong Li, Liming Xuan, Lingyin Kong, Yan Mao, Yijun Zhu, Jingjing Shen, Bo Liang, Hong Li
Massively parallel sequencing (MPS) combined with bioinformatic analysis has been widely applied to detect fetal chromosomal aneuploidies such as trisomy 21, 18, 13 and sex chromosome aneuploidies (SCAs) by sequencing cell-free fetal DNA (cffDNA) from maternal plasma, so-called non-invasive prenatal testing (NIPT). However, many technical challenges, such as dependency on correct fetal sex prediction, large variations of chromosome Y measurement and high sensitivity to random reads mapping, may result in higher false negative rate (FNR) and false positive rate (FPR) in fetal sex prediction as well as in SCAs detection...
2016: PloS One
Jingmei Ma, Yicong Wang, Weipeng Wang, Yanling Dong, Chenming Xu, Aifen Zhou, Zhengfeng Xu, Zhongqin Wu, Xinhua Tang, Fang Chen, Ye Yin, Wei Wang, Miaoli Yan, Wei Zhang, Feng Mu, Huixia Yang
OBJECTIVE: To evaluate a new ultrahigh throughout NIPT method based on combinatorial probe-anchor ligation sequencing (cPAL) of cell-free fetal DNA (cffDNA) for clinical validity using a centralized testing mode. METHODS: To ensure the stable and reproducible performance of centralized cPAL-based NIPT in detecting trisomy 21/18/13, series of quality control system including two sets of artificial samples were employed and evaluated. 10594 singleton pregnancies were enrolled from 20 centers in China, including 8155 retrospective and 2439 prospective cases from high-risk populations...
July 1, 2016: Ultrasound in Obstetrics & Gynecology
F L Mackie, K Hemming, S Allen, R K Morris, M D Kilby
BACKGROUND: Cell-free fetal DNA (cffDNA) non-invasive prenatal testing (NIPT) is rapidly expanding, and is being introduced at varying rates depending on country and condition. OBJECTIVES: Determine accuracy of cffDNA-based NIPT for all conditions. Evaluate influence of other factors on test performance. SEARCH STRATEGY: Medline, Embase, CINAHL, Cochrane Library, from 1997 to April 2015. SELECTION CRITERIA: Cohort studies reporting cffDNA-based NIPT performance in singleton pregnancies...
May 31, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Seema Saraswathy, Kavita Sahai, Devendra Arora, Manu Krishnan, Suman Lata Mendiratta, Shilpie Biswas, Kurian Mathew Abraham
OBJECTIVE: To quantify cell free fetal DNA (cffDNA) with fetal specific epigenetic marker, hypermethylated RASSF1A, in maternal plasma of normal pregnant women from 20 weeks of gestation and to assess its relationship with maternal age, height, pre-pregnancy weight and body mass index (BMI). METHODS: 100 normal pregnant women within the gestational age of 21- 40 weeks were randomly selected and grouped into five (n = 20). Group 1: 21-24, Group 2: 25-28, Group 3: 29-32, Group 4: 33-36 and Group 5: 37- 40 weeks...
May 10, 2016: Journal of Maternal-fetal & Neonatal Medicine
Leili Moezzi, Zeinab Keshavarz, Reza Ranjbaran, Farzaneh Aboualizadeh, Abbas Behzad-Behbahani, Masooma Abdullahi, Amin Ramezani, Alamtaj Samsami, Sedigheh Sharifzadeh
BACKGROUND: Maternal-fetal RhD antigen incompatibility causes approximately 50% of clinically significant alloimmunization cases. The routine use of prophylactic anti-D immunoglobulin has dramatically reduced hemolytic disease of the fetus and newborn. Recently, fetal RHD genotyping in RhD negative pregnant women has been suggested for appropriate use of anti-D immunoglobulin antenatal prophylaxis and decrease unnecessary prenatal interventions. MATERIALS AND METHODS: In this prospective cohort study, in order to develop a reliable and non-invasive method for fetal RHD genotyping, cell free fetal DNA (cffD- NA) was extracted from maternal plasma...
April 2016: International Journal of Fertility & Sterility
C von Kaisenberg, R Chaoui, M Häusler, K O Kagan, P Kozlowski, E Merz, A Rempen, H Steiner, S Tercanli, J Wisser, K-S Heling
The early fetal ultrasound assessment at 11 - 13(+6) weeks of gestation remains the cornerstone of care despite the progress in diagnosing fetal chromosomal defects using cell-free fetal DNA (cffDNA) from the maternal circulation. The measurement of nuchal translucency (NT) allows the risk calculation for the fetal trisomies 21, 18 and 13 but also gives information on those fetal chromosomal defects which are at present unable to be detected using cffDNA. Nuchal translucency is the only auditable parameter at 11 - 13(+6) weeks and gives thus information on the quality of the first trimester anomaly scan...
June 2016: Ultraschall in der Medizin
Qingwei Qi, Sijia Lu, Xiya Zhou, Fengxia Yao, Na Hao, Guangjun Yin, Wenhui Li, Junjie Bai, Ning Li, David S Cram
OBJECTIVE: The study aimed to determine whether cell-free fetal DNA (cffDNA) present in amniotic fluid supernatant can be used as a surrogate for amniocyte-based diagnosis of fetal chromosomal abnormalities. METHOD: Amniocentesis was performed on 28 high-risk pregnancies. Amniocytes and the cffDNA fraction were prepared from the amniotic fluid samples. Chromosomal analysis of amniocytes was performed by either karyotyping or single nucleotide polymorphism (SNP) arrays...
June 2016: Prenatal Diagnosis
Thessalia Papasavva, Pete Martin, Tobias J Legler, Marios Liasides, George Anastasiou, Agathoklis Christofides, Tasos Christodoulou, Sotos Demetriou, Prokopis Kerimis, Charis Kontos, George Leontiades, Demetris Papapetrou, Telis Patroclos, Marios Phylaktou, Nikos Zottis, Eleni Karitzie, Eleni Pavlou, Petros Kountouris, Barbera Veldhuisen, Ellen van der Schoot, Marina Kleanthous
BACKGROUND: After the discovery that cell-free fetal DNA (cffDNA) is circulating in the maternal plasma of pregnant women, non-invasive prenatal diagnosis for fetal RhD in maternal plasma in RhD negative women at risk for haemolytic disease of the newborn (HDN) was clinically established and used by many laboratories. The objectives of this study are: (a) to assess the feasibility and report our experiences of the routine implementation of fetal RHD genotyping by analysis of cffDNA extracted from maternal plasma of RhD negative women at risk of HDN, and (b) to estimate the RhD phenotype frequencies, the RHD genotype frequencies and the RhD zygosity in the Cypriot population...
2016: BMC Research Notes
Shin Young Kim, Hyun Jin Kim, So Yeon Park, Yoo Jung Han, June Seek Choi, Hyun Mee Ryu
OBJECTIVE: To evaluate the predictive value of separate and combined tests using cell-free fetal DNA (cffDNA), cell-free total DNA (cfDNA), and biochemical markers for the early detection of pregnancies with hypertensive disorders. METHODS: A nested case-control study was conducted with 135 singleton pregnancies including 17 gestational hypertension cases, 34 preeclampsia (PE) cases, and 84 controls. We performed real-time quantitative PCR to measure levels of DSCR3 and RASSF1A as cffDNA markers and HYP2 as a cfDNA marker in the first and early second trimesters...
March 22, 2016: Fetal Diagnosis and Therapy
Yang Cao, Nicole L Hoppman, Sarah E Kerr, Christopher A Sattler, Kristi S Borowski, Myra J Wick, W Edward Highsmith, Umut Aypar
Background. Noninvasive prenatal screening (NIPS) is revolutionizing prenatal screening as a result of its increased sensitivity, specificity. NIPS analyzes cell-free fetal DNA (cffDNA) circulating in maternal plasma to detect fetal chromosome abnormalities. However, cffDNA originates from apoptotic placental trophoblast; therefore cffDNA is not always representative of the fetus. Although the published data for NIPS testing states that the current technique ensures high sensitivity and specificity for aneuploidy detection, false positives are possible due to isolated placental mosaicism, vanishing twin or cotwin demise, and maternal chromosome abnormalities or malignancy...
2016: Case Reports in Genetics
Giulia Breveglieri, Elisabetta Bassi, Silvia Carlassara, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Alessia Finotti, Roberto Gambari, Monica Borgatti
OBJECTIVE: Since the discovery of cell-free fetal DNA (cffDNA) in maternal plasma, diagnostic non-invasive prenatal methods have been developed or optimized for fetal sex determination and identification of genetic diseases. As far as fetal sex determination, this might be important for therapeutic intervention on sex-associated pathologies such as Duchenne muscular dystrophy, hemophilia and congenital adrenal hyperplasia. Surface plasmon resonance (SPR)-based biosensors might be useful for these studies, because they allow to monitor the molecular interactions in real-time providing qualitative and quantitative information, through kinetics, affinity and concentration analyses...
April 2016: Prenatal Diagnosis
Hagit Shani, Tamar Goldwaser, Jennifer Keating, Susan Klugman
BACKGROUND: Cell-free fetal DNA analysis is used as a screening test to identify pregnancies that are at risk for common autosomal and sex chromosome aneuploidies. OBJECTIVE: The purpose of this study was to investigate the chromosomal abnormalities that would not be detected by cell-free fetal DNA in a single medical center. STUDY DESIGN: This was a retrospective cohort analysis of 3182 consecutive invasive diagnostic procedures that were performed at Montefiore Medical Center's Division of Reproductive and Medical Genetics from January 1, 2009 to August 31, 2014...
June 2016: American Journal of Obstetrics and Gynecology
F Khordadpoor-Deilamani, M T Akbari
OBJECTIVES: To use the PCR-RFLP-based linkage analysis for non-invasive prenatal diagnosis of β-thalassemia. BACKGROUNDS: Thalassemia is a prevalent genetic disorder occurring throughout the world. Cell-free fetal DNA (cffDNA) in the maternal plasma during pregnancy has been used to develop non-invasive prenatal screening and diagnostic tests. METHODS: PCR-RFLP for six SNPs in the β-globin gene was executed on paternal and maternal DNA as well as DNA extracted from CVS of the fetuses in seven β-thalassemic families...
2015: Bratislavské Lekárske Listy
Iveta Svobodová, Eva Pazourková, Aleš Hořínek, Michaela Novotná, Pavel Calda, Marie Korabečná
Detection and characterization of circulating cell-free fetal DNA (cffDNA) from maternal circulation requires an extremely sensitive and precise method due to very low cffDNA concentration. In our study, droplet digital PCR (ddPCR) was implemented for fetal RHD genotyping from maternal plasma to compare this new quantification alternative with real-time PCR (qPCR) as a golden standard for quantitative analysis of cffDNA. In the first stage of study, a DNA quantification standard was used. Clinical samples, including 10 non-pregnant and 35 pregnant women, were analyzed as a next step...
2015: PloS One
Emmanuel Debrand, Alexandra Lykoudi, Elizabeth Bradshaw, Stephanie K Allen
INTRODUCTION: Non-invasive prenatal diagnosis (NIPD) makes use of cell-free fetal DNA (cffDNA) in the mother's bloodstream as an alternative to invasive sampling methods such as amniocentesis or CVS, which carry a 0.5-1% risk of fetal loss. We describe a droplet digital PCR (ddPCR) assay designed to inform the testing options for couples whose offspring are at risk of suffering from cystic fibrosis via compound heterozygosity. By detecting the presence or absence of the paternal mutation in the cffDNA, it is possible to predict whether the fetus will be an unaffected carrier (absence) or whether further invasive testing is indicated (presence)...
2015: PloS One
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