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

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

2018 ◽  
Vol 45 (6) ◽  
pp. 403-412 ◽  
Author(s):  
Claire Guissart ◽  
Frédéric Tran Mau Them ◽  
Vanessa Debant ◽  
Victoria Viart ◽  
Charlotte Dubucs ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Multiplex Pcr ◽  
Noninvasive Prenatal Diagnosis ◽  
Fluorescent Multiplex Pcr

scholarly journals Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

2019 ◽  
Vol 66 (1) ◽  
pp. 207-216 ◽  
Author(s):  
Natalie J Chandler ◽  
Helena Ahlfors ◽  
Suzanne Drury ◽  
Rhiannon Mellis ◽  
Melissa Hill ◽  
...  
Keyword(s):  
Public Health ◽  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Health Service ◽  
Public Health Service ◽  
De Novo ◽  
Paternal Allele ◽  
Mutation Site ◽  
Monogenic Disorders ◽  
Noninvasive Prenatal Diagnosis

Abstract BACKGROUND Noninvasive prenatal diagnosis (NIPD) for monogenic disorders has a high uptake by families. Since 2013, our accredited public health service laboratory has offered NIPD for monogenic disorders, predominantly for de novo or paternally dominantly inherited mutations. Here we describe the extension of this service to include definitive NIPD for a recessive condition, cystic fibrosis (CF). METHODS Definitive NIPD for CF was developed using next-generation sequencing. Validation was performed on 13 cases from 10 families before implementation. All cases referred for CF NIPD were reviewed to determine turnaround times, genotyping results, and pregnancy outcomes. RESULTS Of 38 referrals, 36 received a result with a mean turnaround of 5.75 days (range, 3–11 days). Nine cases were initially inconclusive, with 3 reported unaffected because the low-risk paternal allele was inherited and 4 cases in which the high-risk paternal allele was inherited, receiving conclusive results following repeat testing. One case was inconclusive owing to a paternal recombination around the mutation site, and one case was uninformative because of no heterozygosity. Before 2016, 3 invasive referrals for CF were received annually compared with 38 for NIPD in the 24 months since offering a definitive NIPD service. CONCLUSIONS Timely and accurate NIPD for definitive prenatal diagnosis of CF is possible in a public health service laboratory. The method detects recombinations, and the service is well-received as evidenced by the significant increase in referrals. The bioinformatic approach is gene agnostic and will be used to expand the range of conditions tested for.

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

scholarly journals Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

1990 ◽  
Vol 322 (5) ◽  
pp. 291-296 ◽  
Author(s):  
Wanda K. Lemna ◽  
Gerald L. Feldman ◽  
Bat-sheva Kerem ◽  
Susan D. Fernbach ◽  
Elaine P. Zevkovich ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Heterozygote Detection

Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis

Science ◽  
1978 ◽  
Vol 201 (4351) ◽  
pp. 180-182 ◽  
Author(s):  
J. Breslow ◽  
J Epstein ◽  
J. Fontaine ◽  
G. Forbes
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Heterozygote Detection ◽  
Dexamethasone Resistance ◽  
Potential Use

Prenatal diagnosis of cystic fibrosis: I. Prospective study of 51 pregnancies

1985 ◽  
Vol 5 (2) ◽  
pp. 97-108 ◽  
Author(s):  
F. Muller ◽  
S. Berg ◽  
J. C. Frot ◽  
J. Boué ◽  
A. Boué
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Prospective Study
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