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) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Boelter WD,Burt BA,Spector EB,Hinton DR,Pavlova Z,Fujimoto Adoi
10.1002/pd.1970101104subject
Has Abstractpub_date
1990-11-01 00:00:00pages
703-15issue
11eissn
0197-3851issn
1097-0223journal_volume
10pub_type
杂志文章abstract:OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1131
更新日期:2005-05-01 00:00:00
abstract::Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050102
更新日期:1985-01-01 00:00:00
abstract::FISH analysis of uncultured interphase amniotic fluid cells from a male fetus revealed two signals using an alpha-satellite X-chromosome DNA probe. One of the signals was much smaller than the other. It was subsequently shown that the normal sized signal was located on the X chromosome and the smaller signal was locat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199909)19:9<832::aid-pd653
更新日期:1999-09-01 00:00:00
abstract::Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we r...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.384
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.749
更新日期:2004-02-01 00:00:00
abstract:BACKGROUND:Descriptions of the rarely occurring condition of conjoined twins are sparse. METHODS:We report a case series of four conjoined twin pregnancies diagnosed up to 16 weeks of gestation. One was in a quadruplet in vitro fertilization intracytoplasmic sperm injection (IVF-ICSI) pregnancy of cryopreserved embryo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1274
更新日期:2005-09-01 00:00:00
abstract::Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5724
更新日期:2020-08-01 00:00:00
abstract::Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<719::aid-pd895>3.0.c
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.577
更新日期:2003-04-01 00:00:00
abstract:INTRODUCTION:Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS:Chromosomal karyotyping analysis was performed on cultured amniotic f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5553
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS:Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All pati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5266
更新日期:2018-06-01 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::We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1547
更新日期:2006-11-01 00:00:00
abstract::Two pregnancies at risk for the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A, phosphomannomutase deficient) were monitored by enzyme and genetic linkage analyses. The index case in both families had a proven deficiency of phosphomannomutase (PMM). An unaffected fetus was predicted in family 1 following ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVE:We examined the psychological responses to termination of pregnancy (TOP) for fetal anomaly from both men and women. The aim was to find risk factors for poor psychological outcome both for the individuals and for the couple. METHODS:A cross-sectional study was performed in 151 couples 2-7 years after TOP. W...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1307
更新日期:2005-12-01 00:00:00
abstract::A case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0.82-0.85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100110
更新日期:1990-01-01 00:00:00
abstract::Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130616
更新日期:1993-06-01 00:00:00
abstract:OBJECTIVE:To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation. STUDY DESIGN:This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Tw...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2446
更新日期:2010-03-01 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:OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4623
更新日期:2015-09-01 00:00:00
abstract::This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120808
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVE:Abnormal maternal serum analytes (pregnancy associated plasma protein A, total human chorionic gonadotropin, alpha fetoprotein, Inhibin A, and unconjugated estriol) measured as part of aneuploidy screening programs have been associated with adverse obstetrical outcomes in euploid pregnancies. This study aimed...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4281
更新日期:2014-02-01 00:00:00
abstract::The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199911)19:11<1012::aid-pd6
更新日期:1999-11-01 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:OBJECTIVE:The aims of this study were to review fetal and maternal outcomes after management of the compromised perinatal airway via operation on placental support or ex utero intrapartum treatment and to discuss implications for future management of these complex and rare cases. METHODS:We have presented a retrospect...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4200
更新日期:2013-11-01 00:00:00
abstract::Circulating placental [human chorionic gonadotrophin (hCG), Schwangerschafts protein 1 (SP1), pregnancy-associated plasma protein A (PAPP-A), decidual (pregnancy protein 12 (PP12), and fetal alphafetoprotein (AFP)] proteins were measured immediately before and within 1 h in 18 women undergoing diagnostic chorionic vil...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080510
更新日期:1988-06-01 00:00:00
abstract::We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.133
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVE:To assess the value of biomagnetic recordings of the umbilical artery over Doppler ultrasound screening in order to predict complications of impaired uteroplacental blood flow in fetuses with intrauterine growth restriction (IUGR). METHODS:Our study population included 11 IUGR preeclamptic (34-37-weeks gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.585
更新日期:2003-04-01 00:00:00
abstract::Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation with paediatric su...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract:OBJECTIVES:To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS:Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with c...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1771
更新日期:2007-08-01 00:00:00