Abstract:
OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine. RESULTS:Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values < 0.15 MoM, 8 (10.8%) at 0.15-0.20 MoM, and 0 (0%) at > 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1:1230) compared to Hispanics (1:1620) and Asians (1:1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women. CONCLUSION:The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Craig WY,Roberson M,Palomaki GE,Shackleton CH,Marcos J,Haddow JEdoi
10.1002/pd.2588subject
Has Abstractpub_date
2010-09-01 00:00:00pages
893-8issue
9eissn
0197-3851issn
1097-0223journal_volume
30pub_type
杂志文章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:OBJECTIVE:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1039
更新日期:2004-11-01 00:00:00
abstract::We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.394
更新日期:2002-06-01 00:00:00
abstract::We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was inci...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.168
更新日期:2001-12-01 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::A child was tentatively diagnosed as having cystic fibrosis, based on neonatal presentation with severe gastrointestinal complications; the diagnosis was not confirmed biochemically and no tissues were available for DNA analysis. The mother presented in her subsequent pregnancy, and microvillar enzyme analysis of cell...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100911
更新日期:1990-09-01 00:00:00
abstract::Fetal cardiac intervention was first proposed in the early 1990s to impact cardiac development and survival of fetuses with fetal aortic stenosis and evolving hypoplastic left heart syndrome (HLHS). Although initial attempts of fetal aortic valvuloplasty were unsuccessful and carried a high rate of morbidity and morta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5631
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2490
更新日期:2010-04-01 00:00:00
abstract::Recent reports suggest an increased incidence of chromosomal abnormalities in pregnancies with amniotic fluid-cell culture failure. We retrospectively reviewed the cytogenetic results of 14,165 amniotic fluid samples processed in our laboratory from 1987 to 1996. Ninety-eight per cent of the samples were obtained befo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5202
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:Studies showing the efficacy and accuracy of chromosomal microarray analysis (CMA) in prenatal diagnosis may position it as a first-tier prenatal test. This study seeks to characterize the practices and attitudes of North American prenatal genetic counselors regarding CMA. METHOD:Genetic counselors (N = 196)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4071
更新日期:2013-04-01 00:00:00
abstract::Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening fo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4647
更新日期:2015-10-01 00:00:00
abstract::Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:Complications in pregnancy are suggested to be the result of intrauterine conditions in the first trimester of pregnancy. Three-dimensional ultrasound volume measurements might give more information, compared with two-dimensional measurements. Commonly available methods for volume measurements are not suited ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.3900
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVES:The aims of this study were (1) to assess the accuracy of estimated fetal weight (EFW) in twins and (2) to assess the accuracy of sonographic examination to predict birth weight discordance (BWD). METHODS:We retrospectively analyzed collected data on twin pregnancies between 2004 and 2007. All twin pregnanc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2469
更新日期:2010-04-01 00:00:00
abstract::We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family history of congenital abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199611)16:11<1046::AID-PD9
更新日期:1996-11-01 00:00:00
abstract::A number of different models of CF carrier screening have now been tested in pilot trials. Apart from opportunistic and cascade testing (which are strictly speaking not true forms of screening), the major programmes have been directed either to young adults in primary care or to pregnant women in antenatal clinics. On...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970141309
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4517
更新日期:2015-05-01 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:OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2300
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4828
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVES:To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS:We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.652
更新日期:2003-08-01 00:00:00
abstract::We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,收录出版
doi:10.1002/pd.1970090505
更新日期:1989-05-01 00:00:00
abstract:OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1035
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVES:The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS:During a 3-year study period, 245 fetuses r...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4472
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:Multiple transplacental medications can be used to treat fetal tachycardia. We sought to perform a systematic review and meta-analysis to determine whether digoxin, flecainide, or sotalol was the most efficacious therapy for converting fetal tachycardia to sinus rhythm. METHOD:We performed a systematic revie...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,meta分析,评审
doi:10.1002/pd.5144
更新日期:2017-11-01 00:00:00
abstract::Fetal surgery has become a clinical reality, with interventions for twin-to-twin transfusion syndrome (TTTS) and spina bifida demonstrated to improve outcome. Fetal imaging is evolving, with the use of 3D ultrasound and fetal MRI becoming more common in clinical practise. Medical imaging analysis is also changing, wit...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4660
更新日期:2015-12-01 00:00:00
abstract::A predominantly triploid 69,XXY placenta was found associated with a normal 46,XX infant. Therefore, a triploid placenta is apparently capable of supporting normal fetal development. The chromosome and pathological results support the conclusion that the triploid placenta originates from a 'vanishing twin' pregnancy. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110705
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2148
更新日期:2008-12-01 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