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 with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Warner TG,Turner MW,Toone JR,Applegarth Ddoi
10.1002/pd.1970060602subject
Has Abstractpub_date
1986-11-01 00:00:00pages
393-400issue
6eissn
0197-3851issn
1097-0223journal_volume
6pub_type
杂志文章abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVES:To explore the effect of maternal rhesus status on first-trimester screening markers for Down syndrome. METHODS:We accessed a database of singleton pregnancies undergoing first-trimester genetic screen with maternal Rh status documented and pregnancy outcome information available. Excluded were cases of fet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVES:Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sough...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4659
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:We sought to evaluate the impact of mode of delivery (MOD) on early outcome for neonates diagnosed prenatally with major forms of congenital heart disease (CHD). METHODS:We retrospectively studied infants admitted, over a 2-year period, to a single institution for cardiac intervention. Infants were grouped o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3991
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5836
更新日期:2020-10-02 00:00:00
abstract:OBJECTIVES:Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS:We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS:On ultrasound, there were bilateral cortical hyperec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.987
更新日期:2004-10-01 00:00:00
abstract::Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970101005
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4066
更新日期:2013-05-01 00:00:00
abstract::Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome bas...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.488
更新日期:2002-12-01 00:00:00
abstract::Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd4
更新日期:1998-12-01 00:00:00
abstract::We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199910)19:10<990::aid-pd67
更新日期:1999-10-01 00:00:00
abstract:OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.358
更新日期:2002-07-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to evaluate the accuracy of fetal diffusion-weighted magnetic resonance imaging with apparent diffusion coefficient (ADC) determination to predict postnatal renal function (nadir creatinine at 1 year and eGFR) of men with posterior urethral valves (PUV). METHODS:Between 2003 a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5063
更新日期:2017-07-01 00:00:00
abstract::A case of focal nodular hyperplasia of the liver presenting in a 36-week-old fetus is reported. The tumour appeared on antenatal ultrasound as a 4.0 cm x 3.0 cm x 2.7 cm hypoechoic mass at the periphery of the right lobe of the liver. Colour Doppler imaging showed it to have prominent vascularity. Postnatally, sonogra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140511
更新日期:1994-05-01 00:00:00
abstract:BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2137
更新日期:2008-12-01 00:00:00
abstract::Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020306
更新日期:1982-07-01 00:00:00
abstract:OBJECTIVE:To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS:A decision-analytic model was performed in couples with a third miscarria...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5005
更新日期:2017-03-01 00:00:00
abstract::Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090907
更新日期:1989-09-01 00:00:00
abstract::In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews;...
journal_title:Prenatal diagnosis
pub_type:
doi:10.1002/pd.1693
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.673
更新日期:2003-09-01 00:00:00
abstract::Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130704
更新日期:1993-07-01 00:00:00
abstract::A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140724
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. METHODS:We describe the case of a monochorionic (MC) diamniotic (DA)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1746
更新日期:2007-07-01 00:00:00
abstract::A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by th...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141011
更新日期:1994-10-01 00:00:00
abstract::The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6-12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eig...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130705
更新日期:1993-07-01 00:00:00
abstract::Counselling in connection with prenatal diagnosis (PND) is a common task for the obstetrician and the midwife. However, the decision making processes of pregnant women are not completely known, for instance, the questions of women's autonomy, the decision on how to act in the case of an abnormal test, and the partner'...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080404
更新日期:1988-05-01 00:00:00
abstract::This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11-14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.1970140312
更新日期:1994-03-01 00:00:00
abstract::A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090107
更新日期:1989-01-01 00:00:00
abstract::In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110820
更新日期:1991-08-01 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