Implementing non-invasive prenatal diagnosis (Nipd) in a national health service laboratory; From dominant to recessive disorders

Advances in Experimental Medicine and Biology

Volumn 924, Issue , 2016, Pages 71-75

  Drury, Suzanne ^a,b   Mason, Sarah ^a   McKay, Fiona ^a   Lo, Kitty ^c   Boustred, Christopher ^a,b   Jenkins, Lucy ^a   Chitty, Lyn S ^a,b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cell free DNA; Fetal; Monogenic disorders; Non invasive prenatal diagnosis (NIPD)

Indexed keywords

ACHONDROPLASIA; ACROCEPHALOSYNDACTYLY; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CAH GENE; CLINICAL ARTICLE; CLINICAL AUDIT; CLINICAL LABORATORY; CONGENITAL ADRENAL HYPERPLASIA; CYSTIC FIBROSIS; FEMALE; FETUS; GENE; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; INHERITANCE; MALE; NATIONAL HEALTH SERVICE; NON INVASIVE MEASUREMENT; PARENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM; THANATAPHORIC DYSPLASIA; ADRENAL HYPERPLASIA, CONGENITAL; BLOOD; DOMINANT GENE; GENETIC DISEASES, INBORN; GENETICS; MEDICAL TECHNOLOGY; PREGNANCY; PROCEDURES; RECESSIVE GENE; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; UNITED KINGDOM;

CYP21A2 PROTEIN, HUMAN; DNA; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA, CONGENITAL; DNA; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC DISEASES, INBORN; HAPLOTYPES; HETEROZYGOTE; HUMANS; MEDICAL LABORATORY SCIENCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; STATE MEDICINE; STEROID 21-HYDROXYLASE; UNITED KINGDOM;

EID: 84996593866     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-3-319-42044-8_14     Document Type: Article

References (14)

1. Banch Clausen F, Steffensen R, Christiansen M et al (2014) Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2 years of screening experience from Denmark. Prenat Diagn 34:1000–1005. doi: 10.1002/pd.4419
2. Chitty LS, Griffi n DR, Meaney C et al (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confi rmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol 37:283–289. doi: 10.1002/uog.8893
3. Chitty LS, Khalil A, Barrett AN et al (2013) Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn 33:416–423. doi: 10.1002/pd.4066
4. Chitty LS, Mason S, Barrett AN et al (2015) Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn 35:656–662. doi: 10.1002/pd.4583
5. Hill M, Finning K, Martin P, Hogg J et al (2011) Noninvasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 80:68–75. doi: 10.1111/j.1399-0004.2010.01533.x
6. Hill M, Lewis C, Jenkins L et al (2012) Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther 12(Suppl 1):S119–S126. doi: 10.1517/14712598.2012.666522
7. Hill M, Twiss P, Verhoef TI et al (2015) Non-invasive prenatal diagnosis for cystic fi brosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 35:950–958. doi: 10.1002/pd.4585
8. Lench N, Barrett A, Fielding S et al (2013) The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made. Prenat Diagn 33:555–562. doi: 10.1002/pd.4124
9. Li H, Durbin R (2009) Fast and accurate short read alignment with burrows-wheeler transform. Bioinforma Oxf Engl 25:1754–1760. doi: 10.1093/bioinformatics/btp324
10. Li H, Handsaker B, Wysoker A et al (2009) 1000 genome project data processing subgroup 2009. The sequence alignment/map format and SAMtools. Bioinforma Oxf Engl 25:2078–2079. doi: 10.1093/bioinformatics/btp352
11. Lo YM, Corbetta N, Chamberlain PF et al (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350:485–487. doi: 10.1016/S0140-6736(97)02174-0
12. Lo YMD, Chan KCA, Sun H et al (2010) Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profi le of the fetus. Sci Transl Med 2:61ra91. doi: 10.1126/scitranslmed.3001720
13. New MI, Tong YK, Yuen T et al (2014) Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 99:E1022–E1030. doi: 10.1210/jc.2014-1118
14. Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27:1–7. doi: 10.1159/000271995