Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array.

abstract：:Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The o...

journal_title：Prenatal diagnosis

authors： Jackson L

更新日期：2003-10-01 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

authors： den Hollander NS,Vinkesteijn A,Schmitz-van Splunder P,Catsman-Berrevoets CE,Wladimiroff JW

更新日期：1998-06-01 00:00:00

abstract：:Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...

journal_title：Prenatal diagnosis

authors： Ray PF,Ao A,Taylor DM,Winston RM,Handyside AH

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:Earlier studies have shown that maternal hormone secretion during late first or second trimester may be affected by gravidity. We examined the luteoplacental hormone secretion during 5-11 weeks of gestation in relation to gravidity. METHOD:Forty-one naturally conceived pregnancies underwent weekly assessment...

journal_title：Prenatal diagnosis

authors： Järvelä IY,Záčková T,Laitinen P,Ryynänen M,Tekay A

更新日期：2012-02-01 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

authors： Schwinger E,Seidl E,Klink F,Rehder H

更新日期：1989-09-01 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

authors： Kotini A,Avgidou K,Koutlaki N,Sigalas J,Anninos P,Anastasiadis P

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:Evaluate patient choices and outcomes following positive cfDNA. METHOD:Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, dia...

journal_title：Prenatal diagnosis

authors： Dobson LJ,Reiff ES,Little SE,Wilkins-Haug L,Bromley B

更新日期：2016-05-01 00:00:00

abstract：:Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...

journal_title：Prenatal diagnosis

authors： Kamphuis MM,Oepkes D

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...

journal_title：Prenatal diagnosis

authors： Parazzini C,Righini A,Doneda C,Arrigoni F,Rustico M,Lanna M,Triulzi F

更新日期：2012-08-01 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

authors： Legras B,Durou MR,Ruelland A,Gallou G,Jezequel C,Cloarec L

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:To present a series of cases with a sonographic thick and heterogeneous placenta, and to review the literature. METHODS:A series of 16 cases were analyzed. A heterogeneous placenta was defined as a thick placenta with a patchy decrease of echogenicity, which quivered like jelly to sharp abdominal pressure. A...

journal_title：Prenatal diagnosis

authors： Raio L,Ghezzi F,Cromi A,Nelle M,Dürig P,Schneider H

更新日期：2004-03-01 00:00:00

abstract：OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nakagawa S,Cohen SR,Dominguez-Pareto I,Shaffer BL,Holloway SD

更新日期：2011-12-01 00:00:00

abstract：:We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

journal_title：Prenatal diagnosis

authors： Hamada H,Horigome H,Asaka M,Shigemitsu S,Mitsui T,Kubo T,Kandori A,Tsukada K

更新日期：1999-07-01 00:00:00

abstract：OBJECTIVES:To develop a reliable and specific technique for rapid prenatal diagnosis of Down syndrome. METHODS:High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compare...

journal_title：Prenatal diagnosis

authors： Hu Y,Zheng M,Xu Z,Wang X,Cui H

更新日期：2004-09-01 00:00:00

abstract：:Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality...

journal_title：Prenatal diagnosis

authors： Niles KM,Blaser S,Shannon P,Chitayat D

更新日期：2019-08-01 00:00:00

abstract：OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...

journal_title：Prenatal diagnosis

authors： Yazdi B,Riefler P,Fischmüller K,Sonek J,Hoopmann M,Kagan KO

更新日期：2013-12-01 00:00:00

abstract：OBJECTIVE:To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies. METHODS:Pregnant women carrying fetuses with a major structural abnormality were recruited at the time of invasive procedure for chromosome analysis. Only women whose...

journal_title：Prenatal diagnosis

authors： Kleeman L,Bianchi DW,Shaffer LG,Rorem E,Cowan J,Craigo SD,Tighiouart H,Wilkins-Haug LE

更新日期：2009-12-01 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

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:Progressively since 1982 and as part of a nationwide programme for the diagnosis and prevention of genetic diseases, maternal serum alpha-fetoprotein (MS-AFP) screening and ultrasound fetal monitoring has been implemented in all pregnant women in Cuba. In Havana City, 328,983 pregnant women underwent MS-AFP screening ...

journal_title：Prenatal diagnosis

authors： Rodríguez L,Sánchez R,Hernández J,Carrillo L,Oliva J,Heredero L

更新日期：1997-04-01 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

authors： Maymon R,Mendelovic S,Schachter M,Ron-El R,Weinraub Z,Herman A

更新日期：2005-09-01 00:00:00

abstract：:A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...

journal_title：Prenatal diagnosis

authors： Hoo JJ,Jamro H,Schmutz S,Lin CC

更新日期：1983-07-01 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

authors： Winsor EJ,Dyack S,Wood-Burgess EM,Ryan G

更新日期：1999-09-01 00:00:00

abstract：OBJECTIVE:To explore the copy number variants (CNVs) in case of fetal duodenal obstruction (DO) and assess the associated prenatal findings and postnatal outcomes. MATERIALS AND METHODS:This retrospective study reviewed 51 fetuses with DO and the findings of chromosomal microarray analysis (CMA) used as a first-tier t...

journal_title：Prenatal diagnosis

authors： Zhang W,Lei T,Fu F,Deng Q,Li R,Wang D,Yang X,Li D,Liao C

更新日期：2020-09-30 00:00:00

abstract：:A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...

journal_title：Prenatal diagnosis

authors： Cheng WF,Huang SC,Ko TM

更新日期：1995-01-01 00:00:00

abstract：:This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...

journal_title：Prenatal diagnosis

authors： Senger G,Chudoba I,Friedrich U,Tommerup N,Claussen U,Brøndum-Nielsen K

更新日期：1997-04-01 00:00:00

abstract：OBJECTIVE:The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD:This was a single-center cohort p...

journal_title：Prenatal diagnosis

authors： Sananès N,Gabriele V,Weingertner AS,Ruano R,Sanz-Cortes M,Gaudineau A,Langer B,Nisand I,Akladios CY,Favre R

更新日期：2016-12-01 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

authors： Neveling K,Tjwan Thung D,Beulen L,van Rens-Buijsman W,Gomes I,van den Heuvel S,Mieloo H,Derks-Prinsen I,Kater-Baats E,Faas BH

更新日期：2016-03-01 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

authors： Morris JK,Waters JJ,de Souza E

更新日期：2012-06-01 00:00:00

abstract：:This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of...

journal_title：Prenatal diagnosis

authors： Fejgin MD,Kedar I,Amiel A,Ben-Tovim T,Chen R,Petel Y,Tepper R

更新日期：1997-11-01 00:00:00

abstract：:Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Suff...

journal_title：Prenatal diagnosis

authors： Robinson BH,Toone JR,Benedict RP,Dimmick JE,Oei J,Applegarth DA

更新日期：1985-01-01 00:00:00