Query: noninvasive prenatal diagnosis of  typing

Candidate papers:

abstract: BACKGROUND Thalassemia is one of most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous SEA deletion in the HBA gene. Few studies has proved the potential of screen for Bart's hydrops fetalis using fetal cell free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE In this study, we aim to develop a non invasive method of target captured sequencing and genotyping by Bayesian method using cff DNA to identify the fetal genotype in pregnant women who are at risk of having Hemoglobin Bart hydrops fetalis in a large scale study. STUDY DESIGN In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian (SEA) type /aa) of a thalassemia. Prenatal diagnosis was performed by CVS, amniocentesis or cordocentesis using gap PCR considered as the golden standard. RESULTS As a result, we can found that the sensitivity and specificity of our non invasive method were 98.81% and 94.72% respectively, in the training set, as well as 100% and 99.31% respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the SEA carrier and 36 trisomy samples with 100% of sensitivity in T13, T18 and T21 and, while 99.89% (1/917) and 99.88% (1/888) of specificity in T18 and T21, respectively. CONCLUSIONS Our method opens the possibility of early screening for maternal genotyping of a thalassemia, fetal aneuploidies in chromosomes 13/18/21, and Hemoglobin Bart hydrops fetalis detection in one tube of maternal plasma.
author_names: Jiexia Yang

Chun-fang Peng

Yi-ming Qi

Xing-qiang Rao

Fang-Fang Guo

Ya-Ping Hou

Wei He

Jing Wu

Yang-Yi Chen

Xin Zhao

Yu-nan Wang

Haishan Peng

Dong-mei Wang

L Du

Mingyong Luo

Quan-fei Huang

Hai-Liang Liu

Aihua Yin
title: Noninvasive Prenatal Detection of Hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the Semiconductor Sequencing Platform (SSP)
venue: American journal of obstetrics and gynecology
year: 2019

abstract: Nowadays, prenatal diagnosis is necessary for pregnant women. For the parents who are expecting a child, the genetic test may provide the information whether they are carrying rare gene mutations and whether they are at risk of passing them onto their offspring. However, the ultimate determination of genetic diseases often requires invasive procedures such as amniocentesis and chorionic villus sampling, which may cause fetal miscarriage. A noninvasive type of prenatal diagnosis needs to be developed in clinical practice to dispel safety concerns. In this paper, we will review the technical advancement of using maternal circulating nucleic acids as the sample in noninvasive studies, and highlight the utilization of next generation sequencing in the screening of genetic diseases.
author_names: Nancy Bo Yin Tsui

Yuk Ming Dennis Lo
title: Noninvasive Prenatal Diagnosis Using Next Generation Sequencing
year: 2014

abstract: To the Editor: After the discovery of fetal DNA in maternal plasma, investigators reported different strategies for the noninvasive prenatal diagnosis of genetic diseases (1) Despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging, and the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. An innovative strategy that has been reported is based on COLD PCR (coamplification at a lower denaturation temperature PCR),1 which exploits melting temperature T m) differences between variant or mismatched sequences and wild type sequences. This approach uses a critical denaturation temperature T c) lower than the T m to selectively amplify minority mutated alleles (2) We have developed assays for the identification of fetal paternally inherited mutations in maternal plasma. These assays use full COLD PCR for the detection of IVSI.110 (G>A) and Cd39 (C>T) HBB (globin, beta) gene mutations that cause b thalassemia. Full COLD PCR is based on the generation of heteroduplexes between mutant and wild type sequences. These heteroduplexes melt at lower temperatures than the wild type homoduplexes. They are selectively denatured at the T c and then subsequently amplified. Given that both the fetal and maternal DNA content in maternal plasma has been demonstrated to vary from pregnancy to
author_names: Silvia Galbiati

Angela Brisci

Faustina Lalatta

Manuela Seia

G Mike Makrigiorgos

Maurizio Ferrari

Laura Cremonesi
title: Full COLD PCR protocol for noninvasive prenatal diagnosis of genetic diseases.
venue: Clinical chemistry
year: 2011

abstract: There is a great effort to find out the biological role of cell free nucleic acids (cfNAs) They are considered very promising targets in the diagnosis of genetic diseases. Non invasive sampling (liquid biopsy) has recently become a very popular method, and new molecular biological techniques have been developed for these types of samples. Application of next generation sequencing (NGS) and massively parallel sequencing (MPS) is spreading fast. These are the part of the arsenal of the modern prenatal genetic diagnostic laboratories by now. Cell free DNA based noninvasive prenatal testing accounts for more than half of the prenatal genetic tests performed, it is gradually replacing the invasive amniocentesis or chorionic villus sample based diagnostics. Besides that, new non coding RNAs are taking more attention: microRNAs (miRNAs) long non coding RNAs (lncRNAs) circular RNAs (circRNAs) are in the focus of the clinical research to detect the most common pregnancy associated diseases, like preeclampsia, fetal growth restriction, congenital heart diseases and gestational diabetes. The research is at advanced stage on the use of microRNAs, while lncRNAs and circRNAs are still promising targets. In this review, comprehensive information is given about the recent developments on this field.
author_names: Balint Nagy
title: Cell free nucleic acids in prenatal diagnosis and pregnancy associated diseases
venue: EJIFCC
year: 2019

abstract: BACKGROUND Microdeletions and microduplications can occur in any pregnancy independent of maternal age. The spectrum and features of pathogenic copy number variants including the size, genomic distribution and mode of inheritance are not well studied. These characteristics have important clinical implications regarding expanding noninvasive prenatal screening for microdeletions and microduplications. OBJECTIVES The aim is to investigate the spectrum and characteristics of pathogenic copy number variants in prenatal genetic diagnosis and to provide recommendations for expanding the scope of noninvasive prenatal screening for microdeletions and microduplications. STUDY DESIGN This is a retrospective study of 1,510 pregnancies who underwent invasive prenatal diagnostic testing by chromosomal microarray analysis. Prenatal samples were retrieved by amniocentesis or chorionic villus sampling and sent to our prenatal genetic diagnosis laboratory for chromosomal microarray analysis. The risk of carrying a fetus with pathogenic copy number variants are stratified by the patients' primary indication for invasive testing. We searched the literature for published prenatal chromosomal microarray data to generate a large cohort of 23,865 fetus. The characteristics and spectrum of pathogenic copy number variants including the type of aberrations (gains or losses) genomic loci, sizes, and the mode of inheritance were studied. RESULTS Overall, 375/23,865 (1.6% fetuses carried pathogenic copy number variants for any indication for invasive testing, and 44 (11.7% of them involve 2 or more pathogenic copy number variants. A total of 428 pathogenic copy number variants were detected in these fetuses, of which 280 are deletions and 148 are duplications. 360 (84.1% were less than 5Mb in size and 68 (15.9% were between 5 10Mb. The incidence of carrying a pathogenic copy number variant in the high risk group is 1 in 36, and the low risk group is 1 in 125. Parental inheritance study results were available in 311 positive cases, 71 (22.8% were maternally inherited, 36 (11.6% were paternally inherited, and 204 (65.6% occurred de novo. CONCLUSION Collectively, pathogenic copy number variants are common in pregnancies. High risk pregnancies should be offered invasive testing with chromosomal microarray analysis for the most comprehensive investigation. Detection limits on size, parental inheritance, and genomic distribution should be carefully considered before implementing copy number variant screening in expanded noninvasive prenatal screening.
author_names: Matthew Hoi Kin Chau

Ye Cao

Ka Yin Yvonne Kwok

Samantha Chan

Yiu Man Chan

Huilin Wang

Zhenjun Yang

Hoi Kin Wong

Tak Yeung Leung

Kwong Wai Choy
title: Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.
venue: American journal of obstetrics and gynecology
year: 2019

abstract: BACKGROUND Non invasive prenatal diagnosis based on detection of fetal cell free DNA is limited when mother and father are both carriers for the same autosomal recessive mutation. OBJECTIVE Develop the semi nested Taqman real time PCR for quantification of alpha thalassemia 1 SEA type deletion allele in plasma of alpha thalassemia 1 SEA carriage pregnancies. MATERIAL AND METHOD Plasma DNA was extracted from six women who carried fetuses with normal, 11 with heterozygote alpha thalassemia 1 SEA type deletion and seven with Bart's hydrops fetalis. DNA was amplified using conventional PCR with the primary specific primer set for alpha thalassemia 1 SEA type deletion. PCR product was then subjected to the semi nested real time PCR using the secondary specific primer and Taqman probe set for alpha thalassemia 1 SEA type deletion. The standard curve was constructed using ten fold serial dilutions of conventional PCR product of the heterozygote alpha thalassemia 1 SEA type deletion. RESULTS Women who carried fetuses with Bart's hydrops fetalis displayed a trend toward higher mean copy number of alpha thalassemia 1 SEA type deletion allele vs. women who carried fetuses with normal and heterozygote, albeit not reaching statistical significance. CONCLUSION The maternally inheritedfetal allele present in maternal plasma is difficult to discern the fetal cell free DNA from a higher background DNA of the mother Thus, further investigation is needed to improve the diagnosis ofBart's hydrops fetalis using this technique.
author_names: Sakorn Pornprasert

Kanyakan Sukunthamala

Naowarat Kunyanone

Sririchai Sittiprasert

Khanungnit Thungkham

Sumeth Junorse

Khachonsilp Pongsawatkul

Wisut Pattanaporn

Chantip Jitwong
title: Semi nested Taqman real time quantitative PCR for noninvasive prenatal diagnosis of Bart's hydrops fetalis.
venue: Journal of the Medical Association of Thailand Chotmaihet thangphaet
year: 2012

abstract: Nowadays, prenatal diagnosis is necessary for pregnant women. For the parents who are expecting a child, the genetic test may provide the information whether they are carrying rare gene mutations and whether they are at risk of passing them onto their offspring. However, the ultimate determination of genetic diseases often requires invasive procedures such as amniocentesis and chorionic villus sampling, which may cause fetal miscarriage. A noninvasive type of prenatal diagnosis needs to be developed in clinical practice to dispel safety concerns. In this paper, we will review the technical advancement of using maternal circulating nucleic acids as the sample in noninvasive studies, and highlight the utilization of next generation sequencing in the screening of genetic diseases.
author_names: Liang Xu

Rui Shi
title: Noninvasive Prenatal Diagnosis Using Next Generation Sequencing
venue: Gynecologic and Obstetric Investigation
year: 2013

abstract: Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treata ble, in which the termination should be considered. This technique is also performed in cases that require im mediate action during the prenatal period and in conditions that can lead to morbidity or mortality of the mother. Prenatal diagnosis can be done by invasive and noninvasive methods. Invasive methods such as amni ocentesis and chorionic villus sampling (CVS) have a risk of causing disability and even death of the fetus. While noninvasive approach by ultrasound is not sufficiently accurate for the diagnosis of genetic diseases, therefore further fetal sampling is required. Noninvasive prenatal diagnosis is a new type of genetic testing done through taking fetal cells, fetal DNA and mRNA, which are found in maternal blood circulation. In this review, we present development of research, constraints, and potential clinical applications of these three methods for noninvasive sampling of the fetus.
author_names: Anak Agung Dewi Megawati
title: Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease
year: 2016

abstract: OBJECTIVE To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions. METHODS Next generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G banding was used to analyze the karyotypes of the fetus and its parents. High throughput sequencing was used to analyze free fetal DNA. RESULTS NGS analysis has revealed a 4.88 Mb deletion at 15q11.2 q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands. CONCLUSION It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader Willi/Angelman syndrome.
author_names: Ming Gao

Hong Pang

Yulin Shi

Xiaojing Feng

Yanhui Zhao

Jun Hua

Dan Tong

Jinping Liu

Juan Wen

Tingting Fan

Lingqian Wu
title: [Genetic diagnosis and non invasive prenatal testing of a fetus with Prader Willi/Angelman syndrome]
venue: Zhonghua yi xue yi chuan xue za zhi Zhonghua yixue yichuanxue zazhi Chinese journal of medical genetics
year: 2019

abstract: Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is possible to predict, with a high level of accuracy, fetal blood group phenotypes from genotyping tests on fetal DNA. The best source is the small quantity of fetal DNA in the blood of pregnant women, as this avoids the requirement for invasive procedures of amniocentesis or chorionic villus sampling (CVS) Many laboratories worldwide now provide noninvasive fetal D genotyping as a routine service for alloimmunized women, and some also test for c, E, C and K.
author_names: Geoff L Daniels

Kirstin M Finning

Pete Martin

Edwin J Massey
title: Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects
venue: Prenatal diagnosis
year: 2009