Abstract:
:A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Dumez Y,Dommergues M,Lyonnet S,Tada K,Kaplan J,Mandelbrot Ldoi
10.1002/pd.1970110912subject
Has Abstractpub_date
1991-09-01 00:00:00pages
737-40issue
9eissn
0197-3851issn
1097-0223journal_volume
11pub_type
杂志文章abstract:OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4278
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVES:To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS:Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1704
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVES:To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS:A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS:Out of 61 case...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1632
更新日期:2007-02-01 00:00:00
abstract::We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(1998100)18:10<1075::aid-pd
更新日期:1998-10-01 00:00:00
abstract::An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091205
更新日期:1989-12-01 00:00:00
abstract:OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4334
更新日期:2014-05-01 00:00:00
abstract::Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adver...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4497
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2043
更新日期:2008-10-01 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:Maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (beta-hCG) are useful markers in the screening of Down syndrome in the first trimester. We investigated the effect of intracytoplasmic sperm injection (ICSI), freezing and thawing of embryos on the levels...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1169
更新日期:2005-05-01 00:00:00
abstract::Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<615::aid-pd855>3.0.c
更新日期:2000-08-01 00:00:00
abstract::Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030202
更新日期:1983-04-01 00:00:00
abstract::Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 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::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::Problems can arise in prenatal screening for Down syndrome when tests are performed in the first and second trimester and some women who have a negative first trimester test have a second trimester serum test. The second test result does not usually take account of the previous one being negative. Even if it does, it ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4113
更新日期:2013-08-01 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::Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.158
更新日期:2001-10-01 00:00:00
abstract::Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prena...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5102
更新日期:2018-01-01 00:00:00
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 wi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060602
更新日期:1986-11-01 00:00:00
abstract::Preimplantation genetic testing for aneuploidy (PGT-A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5816
更新日期:2020-08-24 00:00:00
abstract::The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199605)16:5<425::AID-PD874
更新日期:1996-05-01 00:00:00
abstract::Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030104
更新日期:1983-01-01 00:00:00
abstract::In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non-invasive prenatal testing (NIPT) by following up on the 2013 controversy, 'Should non-invasive DNA testing be the standard screening test for Down syndrome in all pregnant w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4530
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4476
更新日期:2014-12-01 00:00:00
abstract::Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1997-12-01 00:00:00
abstract::Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200011)20:11<930::aid-pd955>3.0.
更新日期:2000-11-01 00:00:00
abstract::We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS:Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4958
更新日期:2016-12-01 00:00:00