Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome.

Abstract:

INTRODUCTION:Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE:To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus. METHODS:All 85 parents of individuals with PWS were interviewed regarding their attitudes towards PND and TOP using semi-structured questionnaire. RESULTS:Fifty-seven parents were supportive of invasive PND and 28 of non-invasive tests only; none opposed PND. Thirty eight favored TOP, additional 31 supported TOP under certain conditions such as spiritual advice, 15 were categorically against TOP. Attitudes correlated with religiosity (p < 0.025), mother's education (p < 0.001), mother's work status (p < 0.001), current age of the child with PWS (p < 0.008). Couples had similar attitudes regarding PND and TOP. No correlation was found with gender, genetic subtype and parental age. CONCLUSIONS:Most parents of individuals with PWS support PND, however less than half support TOP. Religiosity was the most influential factor. Familial worldview should be taken into account during prenatal counseling.

journal_name

Eur J Med Genet

authors

Even-Zohar Gross N,Geva-Eldar T,Pollak Y,Hirsch HJ,Gross I,Gross-Tsur V

doi

10.1016/j.ejmg.2017.01.003

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

205-211

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30234-8

journal_volume

60

pub_type

杂志文章
  • Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

    abstract::We report here a child with a ring chromosome 5 (r(5)) associated with facial dysmorphology and multiple congenital abnormalities. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones was performed to determine the breakpoints involved in the r(5). The 5p deletion extended from 5...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2011.11.005

    authors: Basinko A,Giovannucci Uzielli ML,Scarselli G,Priolo M,Timpani G,De Braekeleer M

    更新日期:2012-02-01 00:00:00

  • 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

    abstract::Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2017.10.018

    authors: Vande Perre P,Zazo Seco C,Patat O,Bouneau L,Vigouroux A,Bourgeois D,El Hout S,Chassaing N,Calvas P

    更新日期:2018-02-01 00:00:00

  • Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation: Review of 11344 consecutive cases in a university hospital.

    abstract:BACKGROUND:Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is nowadays an accurate and safe detection method. The objective of this study is to report the feasibility of cf...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.06.012

    authors: Qian YQ,Wang XQ,Chen M,Luo YQ,Yan K,Yang YM,Liu B,Wang LY,Huang YZ,Li HG,Pan HY,Jin F,Dong MY

    更新日期:2019-02-01 00:00:00

  • Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

    abstract::Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2010.02.004

    authors: Hannes F,Drozniewska M,Vermeesch JR,Haus O

    更新日期:2010-05-01 00:00:00

  • Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

    abstract::Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2013.10.007

    authors: Smigiel R,Marcelis C,Patkowski D,de Leeuw N,Bednarczyk D,Barg E,Mascianica K,Maria Sasiadek M,Brunner H

    更新日期:2014-01-01 00:00:00

  • Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

    abstract::Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, although familial aggregation is also observed with differen...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2013.08.004

    authors: Castori M,Valiante M,Pascolini G,Leuzzi V,Pizzuti A,Grammatico P

    更新日期:2013-10-01 00:00:00

  • Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

    abstract::Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.01.005

    authors: Paderova J,Drabova J,Holubova A,Vlckova M,Havlovicova M,Gregorova A,Pourova R,Romankova V,Moslerova V,Geryk J,Norambuena P,Krulisova V,Krepelova A,Macek M Sr,Macek M Jr

    更新日期:2018-06-01 00:00:00

  • Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

    abstract::Ring chromosome 20 (r(20)) syndrome is a rare disease characterized by refractory epilepsy, moderate mental retardation and particular electroencephalographic disorder with non-convulsive status epilepticus. Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, general...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2007.07.002

    authors: Elghezal H,Hannachi H,Mougou S,Kammoun H,Triki C,Saad A

    更新日期:2007-11-01 00:00:00

  • Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

    abstract::Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- an...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2017.12.007

    authors: Peikert K,Danek A,Hermann A

    更新日期:2018-11-01 00:00:00

  • Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

    abstract::Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2010.06.003

    authors: Gijsbers AC,Bosch CA,Dauwerse JG,Giromus O,Hansson K,Hilhorst-Hofstee Y,Kriek M,van Haeringen A,Bijlsma EK,Bakker E,Breuning MH,Ruivenkamp CA

    更新日期:2010-09-01 00:00:00

  • A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

    abstract::We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH. ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2011.01.005

    authors: Faguer S,De Sandre-Giovannoli A,Hemery M,Lévy N,Lamant L,Arveiler B,Rooryck C,Prouheze C,Vigouroux A,Chauveau D,Calvas P,Chassaing N

    更新日期:2011-05-01 00:00:00

  • 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

    abstract::There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited cl...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2016.09.008

    authors: Shimojima K,Narai S,Togawa M,Doumoto T,Sangu N,Vanakker OM,de Paepe A,Edwards M,Whitehall J,Brescianini S,Petit F,Andrieux J,Yamamoto T

    更新日期:2016-10-01 00:00:00

  • Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

    abstract::Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked u...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2007.02.002

    authors: Hüffmeier U,Tietze HU,Rauch A

    更新日期:2007-05-01 00:00:00

  • Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

    abstract::In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased ri...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2016.01.006

    authors: Harrison CJ,Schwab C

    更新日期:2016-03-01 00:00:00

  • A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

    abstract::A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2011.08.001

    authors: Bartsch O,Schindler D,Beyer V,Gesk S,van't Slot R,Feddersen I,Buijs A,Jaspers NG,Siebert R,Haaf T,Poot M

    更新日期:2012-01-01 00:00:00

  • Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family.

    abstract::Multiple sclerosis is not known to be a risk factor for subsequent development of cancer. Recently, a multiple sclerosis locus was mapped adjacent to BRCA1 gene. We present a familial case affected by multiple sclerosis and cancer. We identified a c.5266dupC (5382insC) frameshift mutation in a 33-year-old woman with b...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2013.07.006

    authors: Holzmann C,Bauer I,Meyer P

    更新日期:2013-10-01 00:00:00

  • A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

    abstract:OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2020.104001

    authors: Luo Y,Hu H,Jiang L,Ma Y,Zhang R,Xu J,Pan Y,Long Y,Yao H,Liang Z

    更新日期:2020-09-01 00:00:00

  • Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

    abstract::Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103812

    authors: Smol T,Ribero-Karrouz W,Edery P,Gorduza DB,Catteau-Jonard S,Manouvrier-Hanu S,Ghoumid J

    更新日期:2020-04-01 00:00:00

  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

    abstract::The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microdupl...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2018.06.010

    authors: Qiao Y,Bagheri H,Tang F,Badduke C,Martell S,Lewis SME,Robinson W,Connolly MB,Arbour L,Rajcan-Separovic E

    更新日期:2019-02-01 00:00:00

  • Finger creases lend a hand in Kabuki syndrome.

    abstract::Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as percep...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2013.07.005

    authors: Michot C,Corsini C,Sanlaville D,Baumann C,Toutain A,Philip N,Busa T,Holder M,Faivre L,Odent S,Delrue MA,Till M,Jacquemont ML,Cordier MP,Goldenberg A,Sanchez E,Alix E,Poisson S,Kayirangwa H,Lacombe D,Gilbert-Dussar

    更新日期:2013-10-01 00:00:00

  • Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

    abstract::Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement generally have a more benign co...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2014.08.010

    authors: Linhares ND,Freire MC,Cardenas RG,Pena HB,Bahia M,Pena SD

    更新日期:2014-11-01 00:00:00

  • Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

    abstract:INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. METHODS AND RESULTS:Conve...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2011.06.006

    authors: Høyer H,Braathen GJ,Eek AK,Skjelbred CF,Russell MB

    更新日期:2011-11-01 00:00:00

  • Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

    abstract::The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XY,r(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to b...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2005.08.004

    authors: Gradek GA,Kvistad PH,Houge G

    更新日期:2006-07-01 00:00:00

  • Familial KANK1 deletion that does not follow expected imprinting pattern.

    abstract::Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be ...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2013.02.006

    authors: Vanzo RJ,Martin MM,Sdano MR,South ST

    更新日期:2013-05-01 00:00:00

  • A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.

    abstract::Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.3...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.01.018

    authors: Xie L,Hou C,Jiang X,Zhao J,Li Y,Xiao T

    更新日期:2019-07-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    abstract::Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2019.103772

    authors: Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期:2020-04-01 00:00:00

  • Humanity and human DNA.

    abstract::Genetics has marked the second half of the 20th century by addressing such formidable problems as the identification of our genes and their role, their interaction with the environment, and even their therapeutic uses. The identification of genes raises questions about differences between humans and non-humans, as wel...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2012.05.007

    authors: Mattei JF

    更新日期:2012-10-01 00:00:00

  • Synophrys.

    abstract:INTRODUCTION:Meeting of the medial eyebrows in the midline (synophrys) may serve as a cutaneous marker lesion for syndromal disorders (e.g. Cornelia de Lange syndrome). CASE PRESENTATION:A 31-year-old man showed supercilia forming a single band of terminal hairs between left and right lateral orbital rim. Medical exam...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2010.02.001

    authors: Möhrenschlager M,Lauenstein M,Ring J,Steiner C

    更新日期:2010-07-01 00:00:00

  • Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

    abstract::Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a p...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章

    doi:10.1016/j.ejmg.2007.11.002

    authors: Mochel F,Missirian C,Reynaud R,Moncla A

    更新日期:2008-01-01 00:00:00

  • Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

    abstract::Autism Spectrum Disorders (ASD) are complex neurodevelopmental conditions characterized by delays in social interactions and communication as well as displays of restrictive/repetitive interests. DNA copy number variants have been identified as a genomic susceptibility factor in ASDs and imply significant genetic hete...

    journal_title:European journal of medical genetics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ejmg.2013.05.006

    authors: Wang P,Carrion P,Qiao Y,Tyson C,Hrynchak M,Calli K,Lopez-Rangel E,Andrieux J,Delobel B,Duban-Bedu B,Thuresson AC,Annerén G,Liu X,Rajcan-Separovic E,Suzanne Lewis ME

    更新日期:2013-08-01 00:00:00