Synchronization of amniotic fluid cells for high resolution cytogenetics.

Abstract:

:A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for another 6 1/2 7 h, then harvested in prometaphase without colcemid. This technique gives a mitotic index of 3.7 per cent after thymidine synchronization and of 3.2 per cent after BrdU synchronization, and more than half of the mitoses were in the earlier phases with the chromosomes showing more than 550 bands per haploid set. GBG, GTG, and RHG prometaphases are presented. Precise high-resolution banding of chromosomes of amniotic fluid cells can increase diagnostic accuracy.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

Qu J,Dallaire L,Lemieux N,Drouin R,Richer CL

doi

10.1002/pd.1970090107

subject

Has Abstract

pub_date

1989-01-01 00:00:00

pages

49-56

issue

1

eissn

0197-3851

issn

1097-0223

journal_volume

9

pub_type

杂志文章
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    abstract:OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.2883

    authors: Jouannic JM,Thieulin AC,Bonnet D,Houyel L,Lelong N,Goffinet F,Khoshnood B

    更新日期:2011-12-01 00:00:00

  • Calcification of the fetal heart--four case reports and a literature review.

    abstract::Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcificat...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/(sici)1097-0223(199811)18:11<1186::aid-pd4

    authors: Hajdu J,Marton T,Papp C,Hruby E,Papp Z

    更新日期:1998-11-01 00:00:00

  • Prenatal ultrasound detection of congenital cataract in trisomy 21.

    abstract::A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-0223(199908)19:8<780::aid-pd634

    authors: Romain M,Awoust J,Dugauquier C,Van Maldergem L

    更新日期:1999-08-01 00:00:00

  • Fetus with long QT syndrome manifested by tachyarrhythmia: a case report.

    abstract::We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-0223(199910)19:10<990::aid-pd67

    authors: Ohkuchi A,Shiraishi H,Minakami H,Eguchi Y,Izumi A,Sato I

    更新日期:1999-10-01 00:00:00

  • Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization.

    abstract::We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phen...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970140712

    authors: Thangavelu M,Pergament E,Espinosa R 3rd,Bohlander SK

    更新日期:1994-07-01 00:00:00

  • Chemical and biochemical studies in fetuses affected with Nieman-Pick disease type A.

    abstract::Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970020306

    authors: Schoenfeld A,Ovadia J,Neri A,Abramovici A,Klibanski C

    更新日期:1982-07-01 00:00:00

  • First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

    abstract:OBJECTIVE:The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. METHODS:Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 1...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.3934

    authors: Prats P,Rodríguez I,Comas C,Puerto B

    更新日期:2012-10-01 00:00:00

  • Psychological impact of the detection of soft markers on routine ultrasound scanning: a pilot study investigating the modifying role of information.

    abstract:OBJECTIVES:To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. METHODS:Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period....

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.373

    authors: Watson MS,Hall S,Langford K,Marteau TM

    更新日期:2002-07-01 00:00:00

  • A normal 46,XX infant with a 46,XX/69,XXY placenta: a major contribution to the placenta is from a resorbed twin.

    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

    authors: Callen DF,Fernandez H,Hull YJ,Svigos JM,Chambers HM,Sutherland GR

    更新日期:1991-07-01 00:00:00

  • Coelocentesis: a study of short-term safety.

    abstract::Coelocentesis was performed in 20 singleton pregnancies at 6-10 weeks of gestation and 2-13 days before planned termination. The control group consisted of 100 women who were also undergoing planned termination and were matched with the study group for maternal age and gestation. During the follow-up period, there wer...

    journal_title:Prenatal diagnosis

    pub_type: 临床试验,杂志文章

    doi:10.1002/(sici)1097-0223(199710)17:10<913::aid-pd17

    authors: Ross JA,Jurkovic D,Nicolaides K

    更新日期:1997-10-01 00:00:00

  • Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations.

    abstract::The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.552

    authors: Chuang L,Kuo PL,Yang HB,Chien CH,Chen PY,Chang CH,Chang FM

    更新日期:2003-02-01 00:00:00

  • Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing.

    abstract:OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.4680

    authors: Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

    更新日期:2015-12-01 00:00:00

  • Meckel-Gruber syndrome: prenatal diagnosis at 10 menstrual weeks using embryoscopy.

    abstract::A case of Meckel-Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involv...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970140210

    authors: Dumez Y,Dommergues M,Gubler MC,Bunduki V,Narcy F,LeMerrer M,Mandelbrot L,Berkowitz R

    更新日期:1994-02-01 00:00:00

  • Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    abstract:OBJECTIVE:The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. METHODS:We report two families presenting with prenatally detected hyperechogenic kidneys. In f...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.4701

    authors: Jones GE,Mousa HA,Rowley H,Houtman P,Vasudevan PC

    更新日期:2015-12-01 00:00:00

  • Familial marker chromosome due to 3:1 disjunction of t(9;15) in a grandparent.

    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

    authors: Winsor EJ,Van Allen MI

    更新日期:1989-12-01 00:00:00

  • Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure.

    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

    authors: Tao J,Li N,Liu Z,Qiu J,Deng Y,Li X,Chen M,Yu J,Zhu J,Yu P,Wang Y

    更新日期:2019-10-01 00:00:00

  • Conceiving a fetus for bone marrow donation: an ethical problem in prenatal diagnosis.

    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

    authors: Clark RD,Fletcher J,Petersen G

    更新日期:1989-05-01 00:00:00

  • Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation.

    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

    authors: Carey WF,Nelson PV,Raymond S,Morris CP

    更新日期:1990-09-01 00:00:00

  • The association of umbilical cord hemangioma with fetal vascular birthmarks.

    abstract:OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章,评审

    doi:10.1002/pd.1109

    authors: Daniel-Spiegel E,Weiner E,Gimburg G,Shalev E

    更新日期:2005-04-01 00:00:00

  • Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isère).

    abstract:OBJECTIVES:This study was performed in order to provide a description of indications for induced elective terminations of pregnancy (ETOP), their characteristics (e.g. gestational age), and their evolution over time. DESIGN OF THE STUDY:This is an epidemiological study. The geographic area covered is the French county...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.711

    authors: Guillem P,Fabre B,Cans C,Robert-Gnansia E,Jouk PS

    更新日期:2003-11-01 00:00:00

  • Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis.

    abstract:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.2424

    authors: Donaghue C,Mann K,Docherty Z,Mazzaschi R,Fear C,Ogilvie C

    更新日期:2010-02-01 00:00:00

  • Prenatal exclusion of Stickler syndrome.

    abstract::Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970140211

    authors: Zlotogora J,Granat M,Knowlton RG

    更新日期:1994-02-01 00:00:00

  • The discourse around usefulness, morality, risk and trust: a focus group study on prenatal genetic testing.

    abstract:OBJECTIVE:This study explores the underlying values and beliefs that guide women's reasoning on prenatal genetic test (PGT) uptake, as framed by their own words, during a group discussion, in a Catholic country such as Italy. METHODS:Women's reasoning was explored by means of five focus group consisting of seven pregn...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.3990

    authors: Pivetti M,Montali L,Simonetti G

    更新日期:2012-12-01 00:00:00

  • Anxiety in women with low maternal serum alpha-fetoprotein screening results.

    abstract::The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocente...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970110607

    authors: Abuelo DN,Hopmann MR,Barsel-Bowers G,Goldstein A

    更新日期:1991-06-01 00:00:00

  • Ultrasound features of congenital listeriosis--a case report.

    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

    authors: Quinlivan JA,Newnham JP,Dickinson JE

    更新日期:1998-10-01 00:00:00

  • Amniotic fluid fibrinolytic system in fetal neural tube defects.

    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

    authors: Legge M

    更新日期:1983-04-01 00:00:00

  • Comparison of models of maternal age-specific risk for Down syndrome live births.

    abstract:OBJECTIVES:To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS:Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references g...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.568

    authors: Morris JK,Wald NJ,Mutton DE,Alberman E

    更新日期:2003-03-01 00:00:00

  • 'False-negative' and 'false-positive' prenatal cytogenetic results due to 'true' mosaicism.

    abstract::A 37-year-old gravida was referred for CVS because of advanced maternal age. A trisomy 21 was present in all cells after short-term incubation (direct processing (DP)) and long-term culture. According to our policy, a retap was offered for confirmation of the result during the legally required 3-day waiting period bet...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970110210

    authors: Hammer P,Holzgreve W,Karabacak Z,Horst J,Miny P

    更新日期:1991-02-01 00:00:00

  • Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling: a controlled trial with infant follow-up.

    abstract::A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or tr...

    journal_title:Prenatal diagnosis

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Nagel HT,Vandenbussche FP,Keirse MJ,Oepkes D,Oosterwijk JC,Beverstock G,Kanhai HH

    更新日期:1998-05-01 00:00:00

  • A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.

    abstract::A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome a...

    journal_title:Prenatal diagnosis

    pub_type: 杂志文章

    doi:10.1002/pd.1970150514

    authors: Gray RG,Green A,Cole T,Davidson V,Giles M,Schutgens RB,Wanders RJ

    更新日期:1995-05-01 00:00:00