Prenatal screening for cystic fibrosis carriers: an economic evaluation.

Abstract:

:The cloning of the CFTR gene has made it technically possible to avert the unwanted birth of a child with cystic fibrosis (CF). Several large trials offering prenatal CF carrier screening suggest that such screening is practical and that identified carriers generally use the information obtained. Therefore, a critical question is whether the cost of such screening is justified. Decision analysis was performed that used information about choices that pregnant women were observed to make at each stage in the Rochester prenatal carrier-screening trial. The cost of screening per CF birth voluntarily averted was estimated to be $1,320,000-$1,400,000. However, the lifetime medical cost of the care of a CF child in today's dollars was estimated to be slightly>$1,000,000. Therefore, despite both the high cost of carrier testing and the relative infrequency of CF conceptions in the general population, the averted medical-care cost resulting from choices freely made are estimated to offset approximately 74%-78% of the costs of a screening program. At present, if it is assumed that a pregnancy terminated because of CF is replaced, the marginal cost for prenatal CF carrier screening is estimated to be $8,290 per quality-adjusted life-year. This value compares favorably with that of many accepted medical services. The cost of prenatal CF carrier screening could fall to equal the averted costs of CF patient care if the cost of carrier testing were to fall to $100.

journal_name

Am J Hum Genet

authors

Rowley PT,Loader S,Kaplan RM

doi

10.1086/302042

subject

Has Abstract

pub_date

1998-10-01 00:00:00

pages

1160-74

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61808-4

journal_volume

63

pub_type

杂志文章
  • Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.

    abstract::Although recent studies provide evidence for a common genetic basis between complex traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-specific manner remains elusive. Here, we have quantified the overlap of genes identified through large-scale genome-wide association studies (GW...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.08.017

    authors: Freund MK,Burch KS,Shi H,Mancuso N,Kichaev G,Garske KM,Pan DZ,Miao Z,Mohlke KL,Laakso M,Pajukanta P,Pasaniuc B,Arboleda VA

    更新日期:2018-10-04 00:00:00

  • Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

    abstract::Allelic data for the D1S80 locus was obtained by using the PCR and subsequent analysis with a high-resolution, horizontal PAGE technique and silver staining. Compared with RFLP analysis of VNTR loci by Southern blotting, the approach described in this paper offers certain advantages: (1) discrete allele resolution, (2...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Budowle B,Chakraborty R,Giusti AM,Eisenberg AJ,Allen RC

    更新日期:1991-01-01 00:00:00

  • Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination.

    abstract::Chromosomal aneuploidy is usually identified by cytogenetic methods. However, for some purposes it would be desirable to have an easier method of recognizing specific trisomies or monosomies. We have devised such an assay. It involves the simultaneous hybridization of two chromosome-specific DNA probes labeled with di...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Dahl HH,Choo KH,Danks DM

    更新日期:1988-10-01 00:00:00

  • Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13.

    abstract::The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogene...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/426953

    authors: Nahed BV,Seker A,Guclu B,Ozturk AK,Finberg K,Hawkins AA,DiLuna ML,State M,Lifton RP,Gunel M

    更新日期:2005-01-01 00:00:00

  • Patterns of maternal transmission in bipolar affective disorder.

    abstract::The mode of inheritance of bipolar affective disorder (BPAD) appears complex, and non-Mendelian models of inheritance have been postulated. Two non-Mendelian phenomena, genomic imprinting and mitochondrial inheritance, may contribute to the complex inheritance pattern seen in BPAD. Both imprinting and mitochondrial in...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: McMahon FJ,Stine OC,Meyers DA,Simpson SG,DePaulo JR

    更新日期:1995-06-01 00:00:00

  • Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

    abstract::X-linked adrenoleukodystrophy (ALD), a neurodegenerative disorder associated with impaired beta-oxidation of very-long-chain fatty acids (VLCFA), is due to mutations in a gene encoding a peroxisomal ATP-binding cassette (ABC) transporter (ALD protein [ALDP]). We analyzed the open reading frame of the ALD gene in 44 Fr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Feigenbaum V,Lombard-Platet G,Guidoux S,Sarde CO,Mandel JL,Aubourg P

    更新日期:1996-06-01 00:00:00

  • Risk of chromosomal abnormalities, with emphasis on live-born offspring of young mothers.

    abstract::In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Little BB,Ramin SM,Cambridge BS,Schneider NR,Cohen DS,Snell LM,Harrod MJ,Johnston WL

    更新日期:1995-11-01 00:00:00

  • Meta-analysis of correlated traits via summary statistics from GWASs with an application in hypertension.

    abstract::Genome-wide association studies (GWASs) have identified many genetic variants underlying complex traits. Many detected genetic loci harbor variants that associate with multiple-even distinct-traits. Most current analysis approaches focus on single traits, even though the final results from multiple traits are evaluate...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2014.11.011

    authors: Zhu X,Feng T,Tayo BO,Liang J,Young JH,Franceschini N,Smith JA,Yanek LR,Sun YV,Edwards TL,Chen W,Nalls M,Fox E,Sale M,Bottinger E,Rotimi C,COGENT BP Consortium.,Liu Y,McKnight B,Liu K,Arnett DK,Chakravati A,Coo

    更新日期:2015-01-08 00:00:00

  • 2018 ASHG Awards and Addresses.

    abstract::Each year at the annual meeting of The American Society of Human Genetics (ASHG), addresses are given in honor of the Society and a number of award winners. A summary of each of these is provided below. On the following pages, we have printed the Presidential Address as well as the addresses for the William Allan Awar...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2019.02.019

    authors:

    更新日期:2019-03-07 00:00:00

  • Bloom syndrome and maternal uniparental disomy for chromosome 15.

    abstract::Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syn...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Woodage T,Prasad M,Dixon JW,Selby RE,Romain DR,Columbano-Green LM,Graham D,Rogan PK,Seip JR,Smith A

    更新日期:1994-07-01 00:00:00

  • miR-196a ameliorates phenotypes of Huntington disease in cell, transgenic mouse, and induced pluripotent stem cell models.

    abstract::Huntington disease (HD) is a dominantly inherited neurodegenerative disorder characterized by dysregulation of various genes. Recently, microRNAs (miRNAs) have been reported to be involved in this dysregulation, suggesting that manipulation of appropriate miRNA regulation may have a therapeutic benefit. Here, we repor...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.05.025

    authors: Cheng PH,Li CL,Chang YF,Tsai SJ,Lai YY,Chan AW,Chen CM,Yang SH

    更新日期:2013-08-08 00:00:00

  • Congenital universal muscular hypoplasia: evidence for autosomal recessive inheritance.

    abstract::Congenital universal muscular hypoplasia has been confused with similar diseases in the past. Evidence presented in this paper distinguishes this disorder from other phenotypically similar ones and indicates that it is inherited as an autosomal recessive disorder. ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Pelias MZ,Thurmon TF

    更新日期:1979-09-01 00:00:00

  • Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

    abstract::Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, located within a distinct segment directly after the TK domain, have been shown to be responsible f...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/303084

    authors: Schwabe GC,Tinschert S,Buschow C,Meinecke P,Wolff G,Gillessen-Kaesbach G,Oldridge M,Wilkie AO,Kömec R,Mundlos S

    更新日期:2000-10-01 00:00:00

  • A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

    abstract::Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a larg...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.02.011

    authors: Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

    更新日期:2011-04-08 00:00:00

  • A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits.

    abstract::Pooling genome-wide association studies (GWASs) increases power but also poses methodological challenges because studies are often heterogeneous. For example, combining GWASs of related but distinct traits can provide promising directions for the discovery of loci with small but common pleiotropic effects. Classical a...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2012.03.015

    authors: Bhattacharjee S,Rajaraman P,Jacobs KB,Wheeler WA,Melin BS,Hartge P,GliomaScan Consortium.,Yeager M,Chung CC,Chanock SJ,Chatterjee N

    更新日期:2012-05-04 00:00:00

  • A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism, on chromosome 13, associated with a predisposition to cancer.

    abstract::The poly(ADP-ribose) polymerase (PADPRP) gene (13q33-qter) depicts a two-allele (A/B) polymorphism. In the noncancer population, the frequency of the B allele is higher among blacks than among whites. Since the incidence of multiple myeloma and prostate and lung cancer is higher in the U.S. black population, we have a...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Lyn D,Cherney BW,Lalande M,Berenson JR,Lichtenstein A,Lupold S,Bhatia KG,Smulson M

    更新日期:1993-01-01 00:00:00

  • Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

    abstract::Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/514877

    authors: Szepetowski P,Rochette J,Berquin P,Piussan C,Lathrop GM,Monaco AP

    更新日期:1997-10-01 00:00:00

  • Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity.

    abstract::Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Goldstein AM,Dracopoli NC,Ho EC,Fraser MC,Kearns KS,Bale SJ,McBride OW,Clark WH Jr,Tucker MA

    更新日期:1993-03-01 00:00:00

  • Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci.

    abstract::Ankylosing spondylitis (AS) is a common inflammatory arthritis predominantly affecting the axial skeleton. Susceptibility to the disease is thought to be oligogenic. To identify the genes involved, we have performed a genomewide scan in 185 families containing 255 affected sibling pairs. Two-point and multipoint nonpa...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/319509

    authors: Laval SH,Timms A,Edwards S,Bradbury L,Brophy S,Milicic A,Rubin L,Siminovitch KA,Weeks DE,Calin A,Wordsworth BP,Brown MA

    更新日期:2001-04-01 00:00:00

  • Walking the interactome for prioritization of candidate disease genes.

    abstract::The identification of genes associated with hereditary disorders has contributed to improving medical care and to a better understanding of gene functions, interactions, and pathways. However, there are well over 1500 Mendelian disorders whose molecular basis remains unknown. At present, methods such as linkage analys...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.02.013

    authors: Köhler S,Bauer S,Horn D,Robinson PN

    更新日期:2008-04-01 00:00:00

  • Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

    abstract::Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302251

    authors: Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

    更新日期:1999-02-01 00:00:00

  • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

    abstract::The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/378817

    authors: Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

    更新日期:2003-10-01 00:00:00

  • Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

    abstract::In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudodeficiency allele, west...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Rootwelt H,Brodtkorb E,Kvittingen EA

    更新日期:1994-12-01 00:00:00

  • De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    abstract::Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2015.11.006

    authors: Burrage LC,Charng WL,Eldomery MK,Willer JR,Davis EE,Lugtenberg D,Zhu W,Leduc MS,Akdemir ZC,Azamian M,Zapata G,Hernandez PP,Schoots J,de Munnik SA,Roepman R,Pearring JN,Jhangiani S,Katsanis N,Vissers LE,Brunner HG,

    更新日期:2015-12-03 00:00:00

  • Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

    abstract::A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutationa...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/318791

    authors: Periquet M,Lücking C,Vaughan J,Bonifati V,Dürr A,De Michele G,Horstink M,Farrer M,Illarioshkin SN,Pollak P,Borg M,Brefel-Courbon C,Denefle P,Meco G,Gasser T,Breteler MM,Wood N,Agid Y,Brice A,French Parkinson's Disea

    更新日期:2001-03-01 00:00:00

  • Error detection for genetic data, using likelihood methods.

    abstract::As genetic maps become denser, the effect of laboratory typing errors becomes more serious. We review a general method for detecting errors in pedigree genotyping data that is a variant of the likelihood-ratio test statistic. It pinpoints individuals and loci with relatively unlikely genotypes. Power and significance ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ehm MG,Kimmel M,Cottingham RW Jr

    更新日期:1996-01-01 00:00:00

  • An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

    abstract::The putative locus for hereditary mixed polyposis syndrome (HMPS) in a large family of Ashkenazi descent (SM96) was previously reported to map to chromosome sub-bands 6q16-q21. However, new clinical data, together with molecular data from additional family members, have shown 6q linkage to be incorrect. A high-density...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/375144

    authors: Jaeger EE,Woodford-Richens KL,Lockett M,Rowan AJ,Sawyer EJ,Heinimann K,Rozen P,Murday VA,Whitelaw SC,Ginsberg A,Atkin WS,Lynch HT,Southey MC,Debinski H,Eng C,Bodmer WF,Talbot IC,Hodgson SV,Thomas HJ,Tomlinson IP

    更新日期:2003-05-01 00:00:00

  • Association studies in consanguineous populations.

    abstract::To study the genetic determinism of multifactorial diseases in large panmictic populations, a strategy consists in looking for an association with markers closely linked to candidate genes. A distribution of marker genotypes different in patients and controls may indicate that the candidate gene is involved in the dis...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Génin E,Clerget-Darpoux F

    更新日期:1996-04-01 00:00:00

  • Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

    abstract::Timely molecular diagnosis of RB1 mutations enables earlier treatment, lower risk, and better health outcomes for patients with retinoblastoma; empowers families to make informed family-planning decisions; and costs less than conventional surveillance. However, complexity has hindered clinical implementation of molecu...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/345651

    authors: Richter S,Vandezande K,Chen N,Zhang K,Sutherland J,Anderson J,Han L,Panton R,Branco P,Gallie B

    更新日期:2003-02-01 00:00:00

  • Reconstructing genetic ancestry blocks in admixed individuals.

    abstract::A chromosome in an individual of recently admixed ancestry resembles a mosaic of chromosomal segments, or ancestry blocks, each derived from a particular ancestral population. We consider the problem of inferring ancestry along the chromosomes in an admixed individual and thereby delineating the ancestry blocks. Using...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/504302

    authors: Tang H,Coram M,Wang P,Zhu X,Risch N

    更新日期:2006-07-01 00:00:00