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 revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1-Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father. RESULTS:Cytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2-Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitalia and testes. CONCLUSION:The present report demonstrates that molecular analysis using polymorphic microsatellite markers and multiplex PCR is a useful complement to cytogenetic methods for the identification and the characterization of Y-chromosomal deletions.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Hwa HL,Ko TM,Chang YY,Huang CH,Su YN,Tseng LH,Hsieh FJdoi
10.1002/pd.817subject
Has Abstractpub_date
2004-02-01 00:00:00pages
121-4issue
2eissn
0197-3851issn
1097-0223journal_volume
24pub_type
杂志文章abstract:OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5060
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199602)16:2<173::AID-PD821
更新日期:1996-02-01 00:00:00
abstract::Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070812
更新日期:1987-10-01 00:00:00
abstract::Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:Whole-genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4127
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1036
更新日期:2005-02-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract::Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.328
更新日期:2002-05-01 00:00:00
abstract::Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to i...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5611
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predomina...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5874
更新日期:2020-11-29 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: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:OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5634
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:To evaluate the screening accuracy for Down syndrome of nuchal translucency (NT) measurement at different crown-rump length (CRL) subgroups along the 10- to 14-week period. METHODS:NT was classified 'enlarged' if greater than or equal to 1.5 and 2.0 multiples of the regressed median. Accuracies for Down syn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1173
更新日期:2005-05-01 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:OBJECTIVE:To identify factors that affected the decision of pregnant women at high risk for pre-eclampsia (PE) in accepting or declining participation in a medicated clinical trial (ASPRE) for the prevention of preterm PE. METHOD:This was a qualitative, cross-sectional study. A purposive sample of 14 participants and ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.5554
更新日期:2019-11-01 00:00:00
abstract::Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14-28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few repor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120903
更新日期:1992-09-01 00:00:00
abstract::Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21,700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to docum...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2781
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5834
更新日期:2020-09-30 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) involves the screening of biopsied cells from in vitro fertilization (IVF) generated embryos. This procedure allows the selective transfer of unaffected embryos and thus may be preferable to prenatal diagnosis for couples at high risk of transmitting genetic defects to their off...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.c
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.711
更新日期:2003-11-01 00:00:00
abstract:OBJECTIVES:To explore the efficacy of contingent triple-screening for Down syndrome (DS), that is, performing triple-screening in pregnant women with DS risks between 1/270 and 1/1000 at routine double-screening, in a Mainland Chinese population. METHODS:Maternal serum concentrations of alpha fetoprotein (AFP), free-b...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2412
更新日期:2010-01-01 00:00:00
abstract:OBJECTIVE:We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD:Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnan...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5693
更新日期:2020-06-01 00:00:00
abstract::Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110405
更新日期:1991-04-01 00:00:00
abstract::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091008
更新日期:1989-10-01 00:00:00
abstract::Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080309
更新日期:1988-03-01 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::We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract:OBJECTIVE:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1618
更新日期:2007-01-01 00:00:00