Umbilical cord pseudocyst in trisomy 18.

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：:The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...

journal_title：Prenatal diagnosis

authors： Breed AS,Mantingh A,Beekhuis JR,Kloosterman MD,ten Bolscher H,Anders GJ

更新日期：1990-02-01 00:00:00

abstract：:The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...

journal_title：Prenatal diagnosis

authors： Hsu TY,Ou CY,Hsu JJ,Kung FT,Chang SY,Soong YK

更新日期：1999-11-01 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

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：OBJECTIVE:To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS:Fetuses with a confirmed diag...

journal_title：Prenatal diagnosis

authors： Chitty LS,Khalil A,Barrett AN,Pajkrt E,Griffin DR,Cole TJ

更新日期：2013-05-01 00:00:00

abstract：:The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetu...

journal_title：Prenatal diagnosis

authors： Tennstedt C,Chaoui R,Vogel M,Göldner B,Dietel M

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...

journal_title：Prenatal diagnosis

authors： Lei T,Feng JL,Xie YJ,Xie HN,Zheng J,Lin MF

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:To present a case of partial 6q trisomy diagnosed prenatally. METHOD:A 28-year-old woman underwent genetic amniocentesis at 23 weeks of gestation on the detection of an enlarged nuchal fold (8.5 mm), which was the only clinical abnormality on routine ultrasound examination. Fetal karyotyping revealed a parti...

journal_title：Prenatal diagnosis

authors： Valerio D,Di Domenico A,Felicetti M,La Boccetta A,Ferrara C,Antonio N,Borrelli AL

更新日期：2006-10-01 00:00:00

abstract：:An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...

journal_title：Prenatal diagnosis

authors： Kadir RA,Hastings R,Economides DL

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVES:To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaemia. METHODS:We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. RESULTS:18,936 women were screened at our prenatal clinic an...

journal_title：Prenatal diagnosis

authors： Leung KY,Lee CP,Tang MH,Lau ET,Ng LK,Lee YP,Chan HY,Ma ES,Chan V

更新日期：2004-11-01 00:00:00

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

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

更新日期：2010-02-01 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：:We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...

journal_title：Prenatal diagnosis

authors： Chen CP,Liu FF,Jan SW,Yang YC,Lan CC

更新日期：1996-12-01 00:00:00

abstract：:During an 8-year period (1984-1992), we made the ultrasonographic diagnosis of cystic adenomatoid malformation (CAM) of the lung in 58 fetuses at 17-39 weeks' gestation. We reviewed the records of these fetuses and combined the data from 74 cases reported in the literature to determine the incidence of the different t...

journal_title：Prenatal diagnosis

authors： Thorpe-Beeston JG,Nicolaides KH

更新日期：1994-08-01 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 compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Children's Fetal Center (TCFC) and postnatal diagnosis. METHODS:We performed a retrospective review of patients referred to the TCFC...

journal_title：Prenatal diagnosis

authors： Santos XM,Papanna R,Johnson A,Cass DL,Olutoye OO,Moise KJ Jr,Belleza-Bascon B,Cassady CI

更新日期：2010-05-01 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

abstract：:Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...

journal_title：Prenatal diagnosis

authors： Chen WY,Lin CN,Chao CS,Yan-Sheng Lin M,Mak CW,Chuang SS,Tzeng CC,Huang KF

更新日期：2003-11-01 00:00:00

abstract：:Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...

journal_title：Prenatal diagnosis

authors： Besley GT,Cohen PT,Faed MJ,Wolstenholme J

更新日期：1983-01-01 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：: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

authors： Legge M

更新日期：1983-04-01 00:00:00

abstract：OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...

journal_title：Prenatal diagnosis

authors： Pinheiro CC,Rayol P,Gozzani L,Reis LM,Zampieri G,Dias CB,Woronik V

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...

journal_title：Prenatal diagnosis

authors： Nguyen C,Dreux S,Heidet L,Czerkiewicz I,Salomon LJ,Guimiot F,Schmitz T,Tsatsaris V,Boulot P,Rousseau T,Muller F

更新日期：2013-08-01 00:00:00

abstract：OBJECTIVES:We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. METHODS:The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12(+2) and 12(+6)...

journal_title：Prenatal diagnosis

authors： Mazza V,Ottolenghi C,Di Monte I,Baldassari F,Rivasi F,Volpe A,Forabosco A

更新日期：2003-09-01 00:00:00

abstract：:Current debates about sex selection start from a paradox: on the one hand, the 'liberal' argument in favour of sex selection is often thought to be sound; but on the other hand there is widespread public opposition to sex selection. So it is worth spending some time examining the arguments against sex selection. Four ...

journal_title：Prenatal diagnosis

authors： Baldwin T

更新日期：2006-07-01 00:00:00

abstract：:There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...

journal_title：Prenatal diagnosis

authors： Law HY,Stanier P,Williamson R,Modell B,Ward RH,Petrou M,Old J,Farrall M

更新日期：1987-03-01 00:00:00

abstract：:This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11-14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were ...

journal_title：Prenatal diagnosis

authors： Calhoun BC,Brehm W,Bombard AT

更新日期：1994-03-01 00:00:00

abstract：:This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...

journal_title：Prenatal diagnosis

authors： Moertel CA,Stupca PJ,Dewald GW

更新日期：1992-08-01 00:00:00

abstract：OBJECTIVE:The aim of this research was to compare the impact of varying degrees of visceral herniation on the growth rates of the contralateral and ipsilateral fetal lungs in cases of isolated left-sided congenital diaphragmatic hernia (CDH). METHODS:Data were retrieved from 58 fetuses with isolated left-sided CDH und...

journal_title：Prenatal diagnosis

authors： Phithakwatchara N,Coleman A,Peiro JL,Lee AE,Keswani SG,Kline-Fath B,Lim FY,Shaaban AF

更新日期：2015-08-01 00:00:00

abstract：:Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18.5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (...

journal_title：Prenatal diagnosis

authors： Bass HN,Oliver JB,Srinivasan M,Petrucha R,Ng W,Lee JE

更新日期：1986-01-01 00:00:00