Psychological consequences of termination of pregnancy for fetal anomaly: similarities and differences between partners.

abstract：:Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...

journal_title：Prenatal diagnosis

authors： Smith FJ,McKusick VA,Nielsen K,Pfendner E,Uitto J,McLean WH

更新日期：1999-10-01 00:00:00

abstract：:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...

journal_title：Prenatal diagnosis

authors： Redford DH,McNay MB,Ferguson-Smith ME,Jamieson ME

更新日期：1984-09-01 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

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

更新日期：1990-09-01 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：OBJECTIVES:To assess the effect of altering image size on the absolute nuchal translucency (NT) measurement. METHODS:NT was measured at three image magnifications (60%, 100% and 200%) in 120 singleton pregnancies. RESULTS:The mean +/- SD NT measurements were 1.52 +/- 0.57 mm, 1.35 +/- 0.53 mm and 1.18 +/- 0.48 mm at ...

journal_title：Prenatal diagnosis

authors： Edwards A,Mulvey S,Wallace EM

更新日期：2003-04-01 00:00:00

abstract：:We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aber...

journal_title：Prenatal diagnosis

authors： Markus-Bustani K,Yaron Y,Goldstein M,Orr-Urtreger A,Ben-Shachar S

更新日期：2012-11-01 00:00:00

abstract：OBJECTIVE:The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...

journal_title：Prenatal diagnosis

authors： Zou Y,Cui L,Xue M,Yan J,Huang M,Gao M,Gao X,Gao Y,Chen ZJ

更新日期：2020-10-02 00:00:00

abstract：:Reversed end-diastolic umbilical artery velocities and a reduced chorionic sac were first seen at 10 weeks in a pregnancy subsequently showing a normal male karyotype on chorionic villi. Four weeks later Doppler studies demonstrated normal umbilical artery waveforms. At 20 weeks, ultrasound examination of the fetus re...

journal_title：Prenatal diagnosis

authors： Borrell A,Costa D,Martinez JM,Farré MT,Palacio M,Mortera C,Fortuny A

更新日期：1998-10-01 00:00:00

abstract：:The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...

journal_title：Prenatal diagnosis

authors： Goel V,Glazier R,Holzapfel S,Pugh P,Summers A

更新日期：1996-05-01 00:00:00

abstract：:A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12,699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origi...

journal_title：Prenatal diagnosis

authors： Brøndum-Nielsen K,Mikkelsen M

更新日期：1995-07-01 00:00:00

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...

journal_title：Prenatal diagnosis

authors： Lim KI,Pugash D,Dansereau J,Wilson RD

更新日期：2002-12-01 00:00:00

abstract：:Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...

journal_title：Prenatal diagnosis

authors： Sütterlin M,Sleiman PA,Onadim Z,Delhanty J

更新日期：1999-12-01 00:00:00

abstract：OBJECTIVES:Amniotic fluid stem cells (AFSCs) are derived from the amniotic fluid of the developing fetus and can give rise to diverse differentiated cells of ectoderm, mesoderm, and endoderm lineages. Intrauterine transplantation is an approach used to cure inherited genetic fetal defects during the gestation period of...

journal_title：Prenatal diagnosis

authors： Peng SY,Chen YH,Chou CJ,Wang YH,Lee HM,Cheng WT,Shaw SW,Wu SC

更新日期：2014-05-01 00:00:00

abstract：:Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...

journal_title：Prenatal diagnosis

authors： Kilby MD,Lander A,Usher-Somers M

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:The objective of the study was to evaluate the performance of first trimester combined screening in cases of placental/fetal, mosaic or non-mosaic, autosomal trisomy other than trisomy 21, 18, or 13, and in cases of aneuploidy for a marker chromosome with focus on biochemical markers. METHOD:We identified 66...

journal_title：Prenatal diagnosis

authors： Tørring N,Petersen OB,Becher N,Vogel I,Uldbjerg N,Danish Fetal Medicine Study Group.,Danish Clinical Genetics Study Group.

更新日期：2015-06-01 00:00:00

abstract：OBJECTIVE:To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved version of the diagnostic formula and perform a larger validation study. ...

journal_title：Prenatal diagnosis

authors： Tsaliki E,Papageorgiou EA,Spyrou C,Koumbaris G,Kypri E,Kyriakou S,Sotiriou C,Touvana E,Keravnou A,Karagrigoriou A,Lamnissou K,Velissariou V,Patsalis PC

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

journal_title：Prenatal diagnosis

authors： Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...

journal_title：Prenatal diagnosis

authors： Chen CP,Lee CC,Chang TY,Town DD,Wang W

更新日期：2004-01-01 00:00:00

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 off...

journal_title：Prenatal diagnosis

authors： Ioulianos A,Wells D,Harper JC,Delhanty JD

更新日期：2000-07-01 00:00:00

abstract：:Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...

journal_title：Prenatal diagnosis

authors： Ozcan T,Burki N,Parkash V,Huang X,Pejovic T,Mahoney MJ,Ward DC

更新日期：2000-01-01 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

authors： Cohen SB,Lipitz S,Mashiach S,Hegesh J,Achiron R

更新日期：1997-10-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...

journal_title：Prenatal diagnosis

authors： Nakamura M,Oba T,Takita H,Tokunaka M,Arakaki T,Goto M,Koyano M,Hamada S,Matsuoka R,Sekizawa A

更新日期：2019-07-01 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:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...

journal_title：Prenatal diagnosis

authors： Traisrisilp K,Sirilert S,Tongsong T

更新日期：2019-07-01 00:00:00

abstract：OBJECTIVE:The aim of this article is to assess the predictive value of second trimester mean uterine artery Doppler pulsatility index (mUtA PI) for pregnancy complications in women with systemic lupus erythematosus (SLE). METHODS:Cohort study of consecutive pregnancies complicated with SLE during a period of 12 years ...

journal_title：Prenatal diagnosis

authors： Pagani G,Reggia R,Andreoli L,Prefumo F,Zatti S,Lojacono A,Tincani A,Frusca T

更新日期：2015-05-01 00:00:00

abstract：:Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detec...

journal_title：Prenatal diagnosis

authors： Loeffler J,Utermann G,Witsch-Baumgartner M

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS:Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent...

journal_title：Prenatal diagnosis

authors： Vergani P,Ghidini A,Weiner S,Locatelli A,Pozzi E,Biffi A

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:We hypothesized that Doppler measurements of the placental and fetal central and peripheral hemodynamics would predict adverse outcomes in prolonged uncomplicated singleton pregnancies. METHOD:A total of 160 participants were recruited to this study. Doppler measurements of placental and fetal hemodynamics a...

journal_title：Prenatal diagnosis

authors： Kauppinen T,Kantomaa T,Tekay A,Mäkikallio K

更新日期：2016-07-01 00:00:00

abstract：:Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells. ...

journal_title：Prenatal diagnosis

authors： Pérez-Cerdá C,Merinero B,Jiménez A,García MJ,Sanz P,Ijlst L,Wanders RJ,Ugarte M

更新日期：1993-06-01 00:00:00