Noninvasive prenatal diagnosis of fetal sex by single-cell PEP-PCR method

2004 ◽  
Vol 24 (1) ◽  
pp. 66-67 ◽  
Author(s):  
Wang Taoran ◽  
Chen Hanping ◽  
Ma Tingyuan
Keyword(s):  
Prenatal Diagnosis ◽  
Single Cell ◽  
Fetal Sex ◽  
Noninvasive Prenatal Diagnosis ◽  
Pcr Method

708: Oligo-based array CGH on a single cell - the way toward noninvasive prenatal diagnosis of genomic imbalance

2009 ◽  
Vol 201 (6) ◽  
pp. S256-S257
Author(s):  
Weimin Bi ◽  
Xinyan Lu ◽  
Chad Shaw ◽  
Ankita Patel ◽  
Joanna Wiszniewska ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Cell ◽  
Array Cgh ◽  
Genomic Imbalance ◽  
Noninvasive Prenatal Diagnosis ◽  
The Way

Noninvasive prenatal diagnosis of fetal sex by a new highly sensitive Real-time PCR

2011 ◽  
Vol 44 (13) ◽  
pp. S100-S101 ◽  
Author(s):  
Narmin MokariZadeh ◽  
Alireza Mesbah-Namin ◽  
Fereydoon Ala
Keyword(s):  
Prenatal Diagnosis ◽  
Real Time ◽  
Real Time Pcr ◽  
Fetal Sex ◽  
Noninvasive Prenatal Diagnosis ◽  
Highly Sensitive

scholarly journals Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

2021 ◽  
Vol 38 (3) ◽  
pp. 727-734
Author(s):  
Jiexia Yang ◽  
Yaping Hou ◽  
Fangfang Guo ◽  
Haishan Peng ◽  
Dongmei Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Sex Chromosome ◽  
Southern China ◽  
Prenatal Testing ◽  
Clinical Genetic ◽  
Fetal Sex ◽  
Sequencing Platform ◽  
Cell Free Fetal Dna ◽  
Fetal Aneuploidies

Abstract Background Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs. Methods A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA). Results A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study. Conclusion Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.

scholarly journals Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband

2019 ◽  
Vol 7 (11) ◽  
Author(s):  
Haoxian Li ◽  
Bole Du ◽  
Fuman Jiang ◽  
Yulai Guo ◽  
Yang Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Differential DNA Methylation as a Tool for Noninvasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies

2010 ◽  
Vol 12 (6) ◽  
pp. 797-807 ◽  
Author(s):  
Floriana Della Ragione ◽  
Paola Mastrovito ◽  
Ciro Campanile ◽  
Anna Conti ◽  
Elisavet A. Papageorgiou ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia

2012 ◽  
Vol 58 (10) ◽  
pp. 1467-1475 ◽  
Author(s):  
Kwan-Wood G Lam ◽  
Peiyong Jiang ◽  
Gary J W Liao ◽  
K C Allen Chan ◽  
Tak Y Leung ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Massively Parallel Sequencing ◽  
Globin Gene ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Sequencing Data ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Noninvasive Prenatal Diagnosis ◽  
Monogenic Diseases

Abstract BACKGROUND A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For clinical applications, the cost and complexity of data analysis might be reduced via targeted application of this approach to selected genomic regions containing disease-causing genes. There is thus a need to explore the feasibility of performing RHDO analysis in a targeted manner. METHODS We performed target enrichment by using solution-phase hybridization followed by massively parallel sequencing of the β-globin gene region in 2 families undergoing prenatal diagnosis for β-thalassemia. We used digital PCR strategies to physically deduce parental haplotypes. Finally, we performed RHDO analysis with target-enriched sequencing data and parental haplotypes to reveal the β-thalassemic status for the fetuses. RESULTS A mean sequencing depth of 206-fold was achieved in the β-globin gene region by targeted sequencing of maternal plasma DNA. RHDO analysis was successful for the sequencing data obtained from the target-enriched samples, including a region in one of the families in which the parents had similar haplotype structures. Data analysis revealed that both fetuses were heterozygous carriers of β-thalassemia. CONCLUSIONS Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.

scholarly journals 44 Single-Nucleotide Polymorphisms Expressed by Placental RNA: Assessment for Use in Noninvasive Prenatal Diagnosis of Trisomy 21

2007 ◽  
Vol 53 (12) ◽  
pp. 2223-2224 ◽  
Author(s):  
Attie TJI Go ◽  
Allerdien Visser ◽  
Monique AM Mulders ◽  
Marinus A Blankenstein ◽  
John MG van Vugt ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Nucleotide Polymorphisms ◽  
Trisomy 21 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Diagnosis

Noninvasive Prenatal Diagnosis for Cystic Fibrosis

2016 ◽  
Vol 71 (1) ◽  
pp. 13-15
Author(s):  
Melissa Hill ◽  
Philip Twiss ◽  
Talitha I. Verhoef ◽  
Suzanne Drury ◽  
Fiona McKay ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Noninvasive Prenatal Diagnosis

Noninvasive Prenatal Diagnosis for Hemoglobin Bart's Hydrops Fetalis

2005 ◽  
Vol 81 (5) ◽  
pp. 396-399 ◽  
Author(s):  
Pranee Winichagoon ◽  
Saisiri Sithongdee ◽  
Sujin Kanokpongsakdi ◽  
Pornpen Tantisirin ◽  
Luigi F. Bernini ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hydrops Fetalis ◽  
Noninvasive Prenatal Diagnosis

Enrichment of NRBC in maternal blood: a more feasible method for noninvasive prenatal diagnosis

2006 ◽  
Vol 26 (6) ◽  
pp. 545-547 ◽  
Author(s):  
Yuditiya Purwosunu ◽  
Akihiko Sekizawa ◽  
Antonio Farina ◽  
Takashi Okai ◽  
Haruo Takabayashi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Blood ◽  
Feasible Method ◽  
Noninvasive Prenatal Diagnosis
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