The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3 ‐related skeletal dysplasias

2020 ◽  
Vol 40 (7) ◽  
pp. 785-791 ◽  
Author(s):  
Rhiannon Mellis ◽  
Natalie Chandler ◽  
Lucy Jenkins ◽  
Lyn S. Chitty
Keyword(s):  
Prenatal Diagnosis ◽  
Skeletal Dysplasias ◽  
Noninvasive Prenatal Diagnosis

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

Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature

2021 ◽  
pp. 1-4
Author(s):  
Antonella Vimercati ◽  
Claudiana Olivieri ◽  
Miriam Dellino ◽  
Mattia Gentile ◽  
Raffaele Tinelli ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Three Dimensional ◽  
Review Of Literature ◽  
Pfeiffer Syndrome

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
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