Abstract:
OBJECTIVES:We present the first prenatal diagnosis of familial hepatic veno-occlusive disease with immunodeficiency (VODI). Homozygous mutations in the gene SP110 are the genetic basis of VODI. The proband in this report presented at three months of age with hepatomegaly hepatic failure and was found to have hypogammaglobulinemia. He died one month after hepatic transplant at eight months of age due to hemophagocytic syndrome. DNA testing detected a homozygous truncating mutation in exon 5; SP110 c.642delC. Prenatal testing was offered to this family in a subsequent pregnancy. METHODS:Chorion villus was sampled at 12 weeks' gestation. DNA was extracted using standard techniques, and sequencing of SP110 exon 5 was performed using flanking primers. Maternal contamination was excluded by examining STR markers in CVS and maternal DNA. RESULTS:A heterozygous SP110 c.642delC mutation was detected in exon 5. This mutation was present in heterozygous form in both parents. CONCLUSIONS:The prenatal test result is predictive of a child with a normal immune and hepatic phenotype. This report presents the first prenatal molecular diagnosis for VODI and shows the importance of molecular genetic research in not only defining the aetiology of syndromes but also in assisting reproductive choices through the collaboration of genetic and feto-maternal services.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Cliffe ST,Wong M,Taylor PJ,Ruga E,Wilcken B,Lindeman R,Buckley MF,Roscioli Tdoi
10.1002/pd.1759subject
Has Abstractpub_date
2007-07-01 00:00:00pages
674-6issue
7eissn
0197-3851issn
1097-0223journal_volume
27pub_type
杂志文章abstract:OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2556
更新日期:2010-08-01 00:00:00
abstract::Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.794
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.817
更新日期:2004-02-01 00:00:00
abstract:BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1401
更新日期:2006-03-01 00:00:00
abstract::46,XY,-22,+t(22;22)(p11;q11) or i(22q) was diagnosed in 15/15 cells from two cultures from the amniotic fluid culture of a 31-year-old patient whose fetus demonstrated cystic hygroma on ultrasound. Cytogenetic studies performed on fetal skin from the abortus revealed the same karyotype as that seen on amniocentesis, b...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120107
更新日期:1992-01-01 00:00:00
abstract::In 3 fetuses affected by congenital chloride diarrhoea there were characteristic prenatal ultrasonic findings. In all cases the fetal abdominal cavity was filled with distended loops of fetal intestine, the fetal stomach was of normal size and polyhydramnios was present. The prenatal ultrasonic findings in this metabo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040611
更新日期:1984-11-01 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 00:00:00
abstract::Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040405
更新日期:1984-07-01 00:00:00
abstract::The effectiveness and costs of prenatal screening programmes for Down's syndrome using maternal serum markers will vary significantly depending on the biological cut-off values chosen in order to select women, at each maternal age, who will be sent for amniocentesis. On the basis of the first French prospective study ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130407
更新日期:1993-04-01 00:00:00
abstract:OBJECTIVES:To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS:Plasma samples were prospectively collected from 84 pregnant w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1513
更新日期:2006-09-01 00:00:00
abstract::We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1999-06-01 00:00:00
abstract::Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070207
更新日期:1987-02-01 00:00:00
abstract::Preimplantation genetic testing for aneuploidy (PGT-A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5816
更新日期:2020-08-24 00:00:00
abstract:OBJECTIVES:Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. METHODS:A cross-...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1218
更新日期:2005-08-01 00:00:00
abstract::Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030104
更新日期:1983-01-01 00:00:00
abstract::Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pd.1970140910
更新日期:1994-09-01 00:00:00
abstract::Trophoblast cells can be detected in maternal blood during normal human pregnancy and DNA from these cells may be used for non-invasive prenatal diagnosis of inherited diseases. The possibility of enriching trophoblast cells from maternal blood samples using a monoclonal antibody (LK26) against a folate-binding protei...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199903)19:3<271::aid-pd517
更新日期:1999-03-01 00:00:00
abstract::Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two i...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970010108
更新日期:1981-01-01 00:00:00
abstract::A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involv...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140210
更新日期:1994-02-01 00:00:00
abstract::Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030212
更新日期:1983-04-01 00:00:00
abstract::An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 00:00:00
abstract::To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported after normaliza...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199809)18:9<893::aid-pd362
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4764
更新日期:2016-02-01 00:00:00
abstract::This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060602
更新日期:1986-11-01 00:00:00
abstract:OBJECTIVE:To determine the ability to assess the fetal anatomy and ultrasound screening markers using three-dimensional (3D) volumes acquired during the 11th to 13th week scan, in relation to whether a fetal profile could be used as a starting section. METHODS:Post hoc analysis of 3D ultrasound volumes acquired at 11...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2891
更新日期:2011-12-01 00:00:00
abstract::Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5505
更新日期:2019-08-01 00:00:00
abstract::Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.126
更新日期:2001-07-01 00:00:00