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 offspring. In this way, termination of pregnancy is avoided. We describe here the development and first clinical application of PGD for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). MCAD is a common inherited metabolic disorder affecting fatty acid beta oxidation. The condition is autosomal recessive with an incidence of 1/6000-1/15 000 live births in the UK. It presents usually within the first two years of life with fasting-associated hypoketotic hypoglycaemia which may lead to coma and death. The strategy developed was based on multiplex fluorescent PCR, and adapted for single cell detection. Mutation analysis was carried out using single-strand conformation polymorphism (SSCP) with fluorescent detection. The embryos generated through IVF arrested on day two post-insemination and consequently none were available for transfer; all available blastomeres were used to confirm the accuracy and reliability of the diagnostic assays.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Ioulianos A,Wells D,Harper JC,Delhanty JDdoi
10.1002/1097-0223(200007)20:7<593::aid-pd876>3.0.csubject
Has Abstractpub_date
2000-07-01 00:00:00pages
593-8issue
7eissn
0197-3851issn
1097-0223pii
10.1002/1097-0223(200007)20:7<593::AID-PD876>3.0.Cjournal_volume
20pub_type
杂志文章abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 00:00:00
abstract::Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5769
更新日期:2020-12-01 00:00:00
abstract::Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970101204
更新日期:1990-12-01 00:00:00
abstract:OBJECTIVE:Pregnant women who receive a high screening risk result for Down, Edwards or Patau syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per syndrome diagnosis. METHOD:The number of tests per Down, Edwards or Patau syndrome diagnosis adjus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3866
更新日期:2012-06-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 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:OBJECTIVES:The purpose of this study was to compare prenatal versus postnatal markers of congenital diaphragmatic hernia (CDH) severity at a single fetal-care center. METHODS:A retrospective study was performed of patients having a complete prenatal evaluation and surgical repair (n = 55). Observed-to-expected lung-to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4721
更新日期:2016-02-01 00:00:00
abstract::In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews;...
journal_title:Prenatal diagnosis
pub_type:
doi:10.1002/pd.1693
更新日期:2007-11-01 00:00:00
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: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::The diagnosis of Dandy-Walker malformation was made on the ultrasonographic evaluation of a 33-week male fetus. Pedigree analysis revealed a family history of isolated Dandy-Walker malformation in three other males, suggesting an X-linked recessive inheritance pattern. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130203
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVE:To determine the completion rate of ultrasound surveys for aneuploidy markers by maternal body mass index (BMI). METHODS:A retrospective review of ultrasounds on midtrimester singleton pregnancies was performed. Subjects were grouped as normal, overweight (BMI 25-29.9 kg/m(2)), and obese: class I (30-34.9 kg...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2554
更新日期:2010-09-01 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::The purpose of the present study was to determine the postnatal outcome and prognostic factors of prenatally diagnosed ventriculomegaly, and to establish the relationship between prenatal sonographic measurements and postnatal psychomotor development. A total of 42 singleton pregnancies with sonographically determined...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199806)18:6<557::aid-pd303
更新日期:1998-06-01 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:OBJECTIVE:To evaluate the population parameters applied to the calculation of risk for Down syndrome (DS) in the first trimester screening (FTS) and the comparison of performance obtained including or excluding maternal age from the mathematical algorithm. METHODS:Three different calculation engines for prenatal risk ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2937
更新日期:2012-03-01 00:00:00
abstract::Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2945
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVES:To determine the recurrence risk of a free trisomy 21 pregnancy. METHODS:Data from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all cases of Down syndrome between 1989 and 2001 in England and Wales were used. Among 11 281 women with a Down syndrome pregnancy ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1292
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVES:To compare liver volume between trisomy 21 and euploid fetuses at 11 to 13 weeks' gestation. METHODS:Fetal liver volume was measured by 3D ultrasound in fetuses at low risk of aneuploidies (n = 200) and another group at high risk, including 148 euploid and 37 with trisomy 21. The association of liver volume...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2633
更新日期:2011-01-01 00:00:00
abstract::The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6-12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eig...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130705
更新日期:1993-07-01 00:00:00
abstract::The effectiveness and costs of prenatal screening programmes for Down's syndrome using maternal serum markers will vary significantly depending on the biological cut-off values chosen in order to select women, at each maternal age, who will be sent for amniocentesis. On the basis of the first French prospective study ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130407
更新日期:1993-04-01 00:00:00
abstract::Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150914
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2713
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2340
更新日期:2009-11-01 00:00:00
abstract::Prenatal diagnosis of Duchenne and Becker muscular dystrophy is performed as a routine procedure in many laboratories around the world, using numerous molecular genetic techniques. Rather than discussing methods that are commonly in use, this review concentrates on some of the methods that are less widely available. T...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(SICI)1097-0223(199612)16:13<1187::AID-PD9
更新日期:1996-12-01 00:00:00
abstract::Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150305
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:We sought to compare the fetal nasal bone length (FNBL) between different ethnic groups at 11-14 weeks' gestation. METHODS:FNBL and the FNBL/CRL ratio were measured in patients undergoing first trimester ultrasound for nuchal translucency (NT) and the ethnicity of the patient was recorded under four categori...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1195
更新日期:2005-08-01 00:00:00
abstract:OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4777
更新日期:2016-03-01 00:00:00
abstract::Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to placental mosaicism. The presence of a second cell line within the placenta was confirmed in all but one case, in which cytogenetic reinvestigations were carried out. Our clini...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090907
更新日期:1989-09-01 00:00:00
abstract::Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in spe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5038
更新日期:2018-01-01 00:00:00