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, resulting in chromosome mosaicism. Meiotic aneuploidies are almost always lethal, however, the clinical significance of mitotic aneuploidies detected by PGT-A is not fully understood and healthy live births have been reported following transfer of mosaic embryos. Here, we used single nucleotide polymorphism genotyping of both polar bodies and embryo samples to identify meiotic aneuploidies and compared copy number changes for meiotic and presumed mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos. PGT-A detected corresponding full copy number changes (≥70%) for 36/37 (97%) maternal meiotic aneuploidies. The number of presumed mitotic copy number changes detected exceeded those of meiotic origin. Although mainly in the mosaic range, some of these mitotic aneuploidies had copy number changes ≥70% and would have been identified as full aneuploidies. Interestingly, many arrested embryos had multiple mitotic aneuploidies across a broad range of copy number changes, which may have arisen through tripolar spindle and other mitotic abnormalities.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Handyside AH,McCollin A,Summers MC,Ottolini CSdoi
10.1002/pd.5816subject
Has Abstractpub_date
2020-08-24 00:00:00eissn
0197-3851issn
1097-0223pub_type
杂志文章,评审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:OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2508
更新日期:2010-06-01 00:00:00
abstract::Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregna...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2551
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). METHODS:Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. RESULTS:Forty-seven neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4438
更新日期:2014-12-01 00:00:00
abstract::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVES:Hysterotomy scar disruption, ranging from myometrial thinning to complete dehiscence, is a well-established complication of open-hysterotomy fetal myelomeningocele (MMC) repair. This study sought to (a) determine the feasibility of postoperative magnetic resonance imaging (MRI) in detecting signs of hysterot...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5565
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVES:To review the accuracy of self-reporting of smoking status in our first trimester screening population and to assess the levels of pregnancy-associated plasma protein-A (PAPP-A) and free-β human chorionic gonadotropin (free-hCGβ) in women who were classified for smoking status by serum cotinine concentration...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4053
更新日期:2013-03-01 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:OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5516
更新日期:2019-10-01 00:00:00
abstract::A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140921
更新日期:1994-09-01 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:OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1112
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To assess whether existing weight correction formulas for PAPP-A and free-beta-hCG developed for weeks 11 to 14 can be applied to pregnancies in weeks 8 to 10. METHODS:Development of formulas based on limited data sets of 8- to 10-week pregnancies and comparison with existing formulas. Calculation of median ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1176
更新日期:2005-06-01 00:00:00
abstract::An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 00:00:00
abstract:OBJECTIVE:We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' fu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2158
更新日期:2008-12-01 00:00:00
abstract::Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.126
更新日期:2001-07-01 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
abstract::Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM19. In two cases, the region detected by CS.7, another DNA probe tightly linked to the C...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090508
更新日期:1989-05-01 00:00:00
abstract:OBJECTIVE:To investigate perinatal outcomes of fetal echogenic bowel (FEB). METHOD:This is a retrospective observational study of FEB cases from Jan 2005-Dec 2010. Data from ultrasound and fetal medicine investigations, uterine artery Doppler (UAD), intra-partum care and neonatal outcome were obtained from Fetal Medic...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3898
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:To determine normal blood flow velocities across the fetal tricuspid valve (TV) at 11-13 weeks and 6 days of gestation and to examine the reproducibility of these measurements. METHODS:A prospective study involving 166 normal singleton pregnancies examined at 11-13 weeks and 6 days was carried out. Descripti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2556
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract::Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030212
更新日期:1983-04-01 00:00:00
abstract::Intra-hepatic abnormalities of the fetal umbilical venous system are poorly documented and clinically not well understood. A case of routine ultrasound examination at 23 weeks' gestation demonstrating foci of hepatic hyperechogenicity and cardiomegaly is presented. Colour Doppler detected absence of flow in the ductus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-10-01 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:OBJECTIVE:The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD:Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5653
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4128
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4550
更新日期:2015-04-01 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 triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091005
更新日期:1989-10-01 00:00:00
abstract::Osteogenesis imperfecta (OI) Type II was diagnosed accurately in an at-risk fetus at 16 weeks gestation by real-time sonography. The most important findings were shortening, deformity and possibly fracture in the long bones particularly the femurs. Ultrasonic visualization of these signs in a fetus at risk will provid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040314
更新日期:1984-05-01 00:00:00