Prenatal diagnosis of single-gene disorders: case studies

2007 ◽  
Vol 17 (1) ◽  
pp. 9-16
Author(s):  
Alec McEwan
Keyword(s):  
Prenatal Diagnosis ◽  
Case Studies ◽  
Single Gene ◽  
Single Gene Disorders

Prenatal Diagnosis of Single Gene Disorders in Northern Finland

1990 ◽  
Vol 22 (2) ◽  
pp. 123-129 ◽  
Author(s):  
Jaakko Leisti ◽  
Pentti Jouppila ◽  
Aki Mustonen ◽  
Marketta Kähkönen ◽  
Riitta Herva ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Single Gene Disorders

Detection of sickle gene by coelocentesis in early pregnancy: a new approach to prenatal diagnosis of single gene disorders

1995 ◽  
Vol 1 (3) ◽  
pp. 123-125 ◽  
Author(s):  
D. Jurkovic ◽  
E. Jauniaux ◽  
S. Campbell ◽  
M. Mitchell ◽  
C. Lees ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Early Pregnancy ◽  
Single Gene ◽  
New Approach ◽  
Single Gene Disorders

scholarly journals Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR

2018 ◽  
Vol 64 (2) ◽  
pp. 336-345 ◽  
Author(s):  
Joan Camunas-Soler ◽  
Hojae Lee ◽  
Louanne Hudgins ◽  
Susan R Hintz ◽  
Yair J Blumenfeld ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Metabolic Disorders ◽  
Single Gene ◽  
Digital Pcr ◽  
Maternal Plasma ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Diagnosis ◽  
Single Gene Disorders ◽  
Fetal Fraction

Abstract BACKGROUND Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma. First, the amount of cfDNA and fetal fraction is determined using a panel of TaqMan assays targeting high-variability single-nucleotide polymorphisms. Second, the ratio of healthy and diseased alleles in maternal plasma is quantified using TaqMan assays targeting the mutations carried by the parents. Two validation approaches of the mutation assay are presented. RESULTS We collected blood samples from 9 pregnancies at risk for different single-gene disorders, including common conditions and rare metabolic disorders. We measured cases at risk of hemophilia, ornithine transcarbamylase deficiency, cystic fibrosis, β-thalassemia, mevalonate kinase deficiency, acetylcholine receptor deficiency, and DFNB1 nonsyndromic hearing loss. We correctly differentiated affected and unaffected pregnancies (2 affected, 7 unaffected), confirmed by neonatal testing. We successfully measured an affected pregnancy as early as week 11 and with a fetal fraction as low as 3.7% (0.3). CONCLUSIONS Our method detects single-nucleotide mutations of autosomal recessive diseases as early as the first trimester of pregnancy. This is of importance for metabolic disorders in which early diagnosis can affect management of the disease and reduce complications and anxiety related to invasive testing.

scholarly journals Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

2019 ◽  
Vol 29 (3) ◽  
pp. 428-438 ◽  
Author(s):  
Tom Rabinowitz ◽  
Avital Polsky ◽  
David Golan ◽  
Artem Danilevsky ◽  
Guy Shapira ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Noninvasive Prenatal Diagnosis ◽  
Single Gene Disorders

The role of cloned genes in the prevention of genetic disease

1988 ◽  
Vol 319 (1194) ◽  
pp. 249-261 ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disease ◽  
Dna Analysis ◽  
Recombinant Dna ◽  
Single Gene ◽  
Recombinant Dna Technology ◽  
Human Genetic Disease ◽  
Single Gene Disorders ◽  
Current Experience

The application of recombinant DNA technology to the study of human genetic disease promises to increase the scope for carrier detection and prenatal diagnosis. Here we summarize current experience with prenatal diagnosis of single-gene disorders by DNA analysis and highlight some of the technical and organizational problems that remain to be solved.

618: Accuracy of noninvasive prenatal diagnosis of fetal single gene disorders from maternal blood

2008 ◽  
Vol 199 (6) ◽  
pp. S178
Author(s):  
Janet Ober-Berman ◽  
Yali Xiong ◽  
Carla Wagner ◽  
Stacey Jeronis ◽  
Ossie Geifman-Holtzman
Keyword(s):  
Prenatal Diagnosis ◽  
Single Gene ◽  
Maternal Blood ◽  
Noninvasive Prenatal Diagnosis ◽  
Single Gene Disorders

scholarly journals Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

2016 ◽  
Vol 36 (7) ◽  
pp. 636-642 ◽  
Author(s):  
Talitha I. Verhoef ◽  
Melissa Hill ◽  
Suzanne Drury ◽  
Sarah Mason ◽  
Lucy Jenkins ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cost Analysis ◽  
Single Gene ◽  
Non Invasive ◽  
Single Gene Disorders

Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR

The Analyst ◽  
2016 ◽  
Vol 141 (1) ◽  
pp. 285-290 ◽  
Author(s):  
Huan Huang ◽  
Shuo Li ◽  
Shuolian Lu ◽  
Hongshan Ge ◽  
Lizhou Sun
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Starting Material ◽  
Inexpensive Method ◽  
Single Gene Disorders

A rapid and inexpensive method for fetal genetic diagnosis using amniotic fluid (AF) as the starting material was demonstrated in this study.

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