Abstract:
OBJECTIVES:To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. METHODS:All DNA samples were extracted from peripheral whole blood and amniocentesis-derived cells. Mutation analysis was performed for all five coding exons of the TYR gene, which were amplified by PCR. DHPLC was used for heteroduplex detection and sequence analysis was performed to demonstrate the mutation loci. RESULTS:Case 1: After sampling of blood from the family members and performing amniocentesis of the fetus, it was demonstrated that the affected boy and the female fetus were shown to be compound heterozygotes for mutations in the TYR gene. In addition, it was shown that the parents were carriers of the two mutations. However, the couple chose to keep the baby. Case 2: Mutation analysis of the DNA of the siblings revealed two heterozygous mutations in the TYR gene. Her husband is free of the disease. According to the principles of autosomal recessive inheritance, the incidence of affected offspring is very low. CONCLUSIONS:Herein we introduce a novel application for molecular diagnostic of DHPLC coupled with direct sequencing, which can provide an effective and exact diagnosis in patients with albinism. Clinicians should be cognizant of the risk of OCA inheritance by the offspring through careful identification of genetic mutations and the inheritance mode, both important to ensure comprehensive genetic counseling.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Lin SY,Chien SC,Su YN,Lee CN,Chen CPdoi
10.1002/pd.1439subject
Has Abstractpub_date
2006-05-01 00:00:00pages
466-70issue
5eissn
0197-3851issn
1097-0223journal_volume
26pub_type
杂志文章abstract::A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970101104
更新日期:1990-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine whether fetal nucleated red blood cells (NRBCs) could be distinguished from maternal cells in peripheral blood using an erythroblast scoring system based on the unique morphological and hemoglobin staining characteristics of this cell type. Presumptive fetal NRBCs were f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1199
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non-invasive prenatal testing (NIPT). METHODS:A retrospective study of women undergoing pre-NIPT ultrasound with fetal crown-rump length (CRL) of 28 to 44 mm was conducted at a tertia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5847
更新日期:2020-10-17 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 00:00:00
abstract::Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120307
更新日期:1992-03-01 00:00:00
abstract::Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5209
更新日期:2018-02-01 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:OBJECTIVE:The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS:Data were retrieved from 58 fetuses with isolated left-sided CDH und...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4605
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to determine the maternal serum concentration of insulin-like growth factor-binding protein-1 (IGFBP-1) at 11-13 weeks' gestation in pregnancies that subsequently develop pre-eclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI). METHODS:M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2682
更新日期:2011-02-01 00:00:00
abstract::Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2945
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1501
更新日期:2006-09-01 00:00:00
abstract::In order to elucidate the consistency between generally used age-dependent risk values for Down syndrome (DS) and estimates of the probability of miscarriage in Down pregnancies we have compared expected numbers with estimated numbers of births with DS in Denmark had no intervention at all been carried out. The expect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.113
更新日期:2001-08-01 00:00:00
abstract::We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.287
更新日期:2002-05-01 00:00:00
abstract::Prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.582
更新日期:2003-07-01 00:00:00
abstract::Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1473
更新日期:2006-07-01 00:00:00
abstract::We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.260
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5475
更新日期:2019-07-01 00:00:00
abstract::We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199606)16:6<495::AID-PD899
更新日期:1996-06-01 00:00:00
abstract::The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology,...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1061
更新日期:2004-12-30 00:00:00
abstract::Twelve second-trimester fetuses with cystic hygroma underwent fetal blood sampling for rapid karyotyping, haematologic evaluation, and blood gas analysis. An abnormal karyotype was found in seven cases: monosomy X in five, trisomy 21 in one, and trisomy 13 in the other. Eight of ten fetuses undergoing blood gas analys...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100309
更新日期:1990-03-01 00:00:00
abstract::We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedure...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970111203
更新日期:1991-12-01 00:00:00
abstract::Maternal serum CA 125 levels were determined at 9-11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120911
更新日期:1992-09-01 00:00:00
abstract::The pregnancy outcome of 1936 women who had transcervical chorionic villus sampling (CVS) with a flexible biopsy forceps was evaluated. Follow-up until 4 weeks after delivery was 99.4 per cent. Various patient- and procedure-related risk factors for spontaneous loss (fetal or neonatal death) were analysed using stepwi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150904
更新日期:1995-09-01 00:00:00
abstract::A comparative study of women who underwent prenatal cystic fibrosis (CF) carrier screening by either the 'two-step method' or the 'couple method' was carried out 2-4 years after testing. Recall of the screening test and test result, understanding of the implications of the test result, and reproductive intentions and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199709)17:9<853::aid-pd151
更新日期:1997-09-01 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::Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.3863
更新日期:2012-04-01 00:00:00
abstract::Four fetuses with a femur measuring greater than two standard deviations below the mean compared with the biparietal diameter are presented. These four fetuses were subsequently determined to have severe intrauterine growth retardation and no evidence of skeletal dysplasias. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130605
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5372
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVES:Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give mo...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.1090
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.407
更新日期:2002-09-01 00:00:00