Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.

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

authors： Pruetz JD,Carroll C,Trento LU,Chang RK,Detterich J,Miller DA,Sklansky M

更新日期：2014-12-01 00:00:00

abstract：:Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...

journal_title：Prenatal diagnosis

authors： Wolfberg AJ

更新日期：2018-02-01 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

authors： Van Lith JM,Faas BH,Bianchi DW

更新日期：2015-01-01 00:00:00

abstract：:A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neon...

journal_title：Prenatal diagnosis

authors： Viljoen DL,Jaquire Z,Woods DL

更新日期：1991-03-01 00:00:00

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

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

更新日期：1991-07-01 00:00:00

abstract：:We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...

journal_title：Prenatal diagnosis

authors： Giers G,Hoch J,Bauer H,Bald R,Kiefel V,Kroll H,Hansmann M,Hanfland P,Mueller-Eckhardt C,Scharf RE

更新日期：1996-06-01 00:00:00

abstract：:Immunoreactive trypsin (IRT) has been assayed in cord blood collection by fetoscopy from fetuses with estimated gestational ages of between 16-24 weeks. Eighty per cent of the specimens contained more than 5 ng/ml of IRT indicating pancreatic synthesis of trypsin by mid-term. A prenatal test for cystic fibrosis based ...

journal_title：Prenatal diagnosis

authors： Ryley HC,Rodeck CH

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVES:To study the clinical, emotional and moral difficulties that French midwives encounter in the labor ward while performing termination of pregnancy (TOP) for fetal abnormality. SETTING:Six public maternity hospitals located in the Ile de France region, two of which were referral centers for prenatal diagnosi...

journal_title：Prenatal diagnosis

authors： Garel M,Etienne E,Blondel B,Dommergues M

更新日期：2007-07-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. METHODS:We searched the prenatal records of all patien...

journal_title：Prenatal diagnosis

authors： Boito S,Crovetto F,Ischia B,Crippa BL,Fabietti I,Bedeschi MF,Lalatta F,Colombo L,Mosca F,Fedele L,Persico N

更新日期：2016-08-01 00:00:00

abstract：:We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...

journal_title：Prenatal diagnosis

authors： Besançon AM,Belon JP,Castelnau L,Dumez Y,Poenaru L

更新日期：1984-09-01 00:00:00

abstract：:Operator experience is considered to influence the safety and success of medical procedures. We performed a retrospective survey to assess learning curves in chorionic villus sampling (CVS). Data of 2081 consecutive women, in whom CVS was carried out in a tertiary care university hospital for prenatal diagnosis, were ...

journal_title：Prenatal diagnosis

authors： Wijnberger LD,van der Schouw YT,Christiaens GC

更新日期：2000-03-01 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

authors： Sharkia R,Tarabeia J,Zalan A,Atamany E,Athamna M,Allon-Shalev S

更新日期：2015-04-01 00:00:00

abstract：:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 we...

journal_title：Prenatal diagnosis

authors： Meir K,Yagel S,Amsalem H,Ariel I

更新日期：2002-03-01 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

authors： Bajoria R,Kingdom J

更新日期：1997-12-01 00:00:00

abstract：:Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence ...

journal_title：Prenatal diagnosis

authors： Mostello D,Hoechstetter L,Bendon RW,Dignan PS,Oestreich AE,Siddiqi TA

更新日期：1991-04-01 00:00:00

abstract：:We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...

journal_title：Prenatal diagnosis

authors： Mesker WE,Ouwerkerk-van Velzen MC,Oosterwijk JC,Bernini LF,Golbus MS,Kanhai HH,Van Ommen GJ,Tanke HJ

更新日期：1998-11-01 00:00:00

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

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

更新日期：1999-08-01 00:00:00

abstract：:We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype...

journal_title：Prenatal diagnosis

authors： Sims CJ,Fujito DT,Burholt DR,Dadok J,Giles HR,Wilkinson DA

更新日期：1993-06-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome. METHODS:Twenty semi-structured interviews were conducted to explore aspects of the decision-making process. Interviews were digitally...

journal_title：Prenatal diagnosis

authors： Carroll FE,Owen-Smith A,Shaw A,Montgomery AA

更新日期：2012-01-01 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

authors： Mann K,Ogilvie CM

更新日期：2012-04-01 00:00:00

abstract：:Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th wee...

journal_title：Prenatal diagnosis

authors： Winter R,Rosenkranz W,Hofmann H,Zierler H,Becker H,Borkenstein M

更新日期：1985-01-01 00:00:00

abstract：BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...

journal_title：Prenatal diagnosis

authors： Gerdes T,Kirchhoff M,Lind AM,Vestergaard Larsen G,Kjaergaard S

更新日期：2008-12-01 00:00:00

abstract：:The prenatal sonographic findings in two children with Aicardi syndrome are reported. ...

journal_title：Prenatal diagnosis

authors： Bromley B,Krishnamoorthy KS,Benacerraf BR

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses. METHODS:One hundred and fifty-one healthy Chinese fetuses were divided into five...

journal_title：Prenatal diagnosis

authors： Peng QH,Zhou QC,Zeng S,Tian LQ,Zhang M,Tan Y,Pu DR

更新日期：2009-12-01 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

authors： Werner EF,Pastore LM,Karns LB,Ventura KA,Saller DN

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...

journal_title：Prenatal diagnosis

authors： Li XB,Kasprian G,Hodge JC,Jiang XL,Bettelheim D,Brugger PC,Prayer D

更新日期：2010-11-01 00:00:00

abstract：OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...

journal_title：Prenatal diagnosis

authors： Sahraravand M,Laitinen P,Järvelä I,Ryynänen M

更新日期：2016-02-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...

journal_title：Prenatal diagnosis

authors： Kubaski F,Brusius-Facchin AC,Mason RW,Patel P,Burin MG,Michelin-Tirelli K,Kessler RG,Bender F,Leistner-Segal S,Moreno CA,Cavalcanti DP,Giugliani R,Tomatsu S

更新日期：2017-05-01 00:00:00

abstract：OBJECTIVES:To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS:Plasma samples were prospectively collected from 84 pregnant w...

journal_title：Prenatal diagnosis

authors： Bauer M,Hutterer G,Eder M,Majer S,Leshane E,Johnson KL,Peter I,Bianchi DW,Pertl B

更新日期：2006-09-01 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