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Allanson Ben - - 2010
INTRODUCTION: Chorioamnionitis is a common cause of second trimester pregnancy loss, usually due to ascending infection. This study investigates the prevalence and bacteriology of chorioamnionitis in cases of spontaneous pregnancy loss in previable gestations (16-22 weeks). METHODS: Fetal losses between 16- and 22-week gestation were identified from the institutional database ...
Farina Antonio - - 2010
The objectives of this study were (1) to evaluate if the elevation of maternal serum alpha-feto protein (MSAFP) and pregnancy-associated placental protein-A (PAPP-A) in the maternal blood after chorionic villous sampling (CVS) is associated with a higher preeclampsia (PE) rate and (2) to verify the clinical utility of the analytes ...
Plante Beth J - - 2010
To determine if diminished ovarian reserve (measured by maternal antimullerian hormone (AMH) levels), is associated with fetal aneuploidy (determined by prenatal karyotype). This case-control study included 213 women with singleton pregnancies who underwent both serum aneuploidy screening and invasive prenatal diagnosis. 18 patients carrying an aneuploid fetus served as cases ...
Tongprasert Fuanglada - - 2010
OBJECTIVE: To compare the outcomes of the first 50 cordocenteses at mid-gestation performed by operators who either or not received training on an in vitro model earlier. MATERIALS AND METHODS: Our unit keeps a prospective database on procedure details and outcomes of cordocenteses. We compared 50 consecutive procedures, from the ...
Kolialexi Aggeliki - - 2010
Rhesus (Rh) D blood group incompatibility between a pregnant woman and the fetus can occasionally cause maternal alloimmunization and hemolytic disease of the fetus and of the newborn in subsequent pregnancies. RHD genotyping of fetuses carried by RhD-negative women using fetal DNA obtained invasively through amniocentesis or chorionic villus sampling ...
Gutensohn K - - 2010
OBJECTIVE: The aim of the study was to determine the sensitivity, specificity and accuracy of noninvasive tests for the fetal rhesus CcEc (RHCE) alleles C, c and E in early pregnancy. DESIGN: A prospective clinical trial was carried out to evaluate diagnostic accuracy. SETTING: Women were recruited at four centres ...
San Millan Beatriz - - 2010
To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease). Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe ...
Jain Supriya - - 2010
OBJECTIVES: The purpose of this series was to identify vascular rings prenatally on fetal echocardiograms. METHODS: We reviewed the fetal echocardiograms and clinical histories of 9 patients with a diagnosis of vascular rings at our institution from 2004 to 2009. Eight patients had a prenatal diagnosis by fetal echocardiography. One ...
Balkan Mahmut - - 2010
This study investigated parental decision-making to terminate or continue a pregnancy after prenatal diagnosis of a chromosomal abnormality among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1068 amniocentesis tests were performed in the Medical Biology and Genetic Department Laboratory at Dicle University. Aneuploidy was found in ...
Simonazzi Giuliana - - 2010
OBJECTIVE: To compare the fetal loss rate <24 weeks and the preterm premature rupture of the membranes <34 weeks' gestation according to type of invasive procedure and to sampling techniques in twins. STUDY DESIGN: Retrospective cohort study of 204 twin pregnancies, who underwent amniocentesis (100) or chorionic villus sampling (104). ...
De Rycke Martine - - 2010
Preimplantation genetic diagnosis (PGD) involves testing of single cells biopsied from oocytes and/or embryos generated in vitro. As only embryos unaffected for a given genetic condition are transferred to the uterus, it avoids prenatal diagnosis and termination of pregnancy. Follow-up data from PGD pregnancies, deliveries and children show an acceptable ...
Karimi Mehran - - 2010
The aim of this study was to evaluate the degree of acceptability of prenatal diagnosis and voluntary termination of pregnancy in case of a fetus affected with beta-thalassemia major (beta-TM) in patients and their parents in Southern Iran. We interviewed 510 parents who had beta-TM children and 254 patients. A ...
Kulas Tomislav - - 2010
We present a rare case of congenital cystic adenomatoid malformation (CCAM) type III (mycrocystic) in young, 19 years old primigravida. Diagnosis has been accomplished by ultrasound examination in 26th week of gestation. Hyperechogenic, mycrocystic mass was found in left pulmonary lobe with contra lateral displacement of mediastinum, hypoplasia of the ...
Clemente Claudia Maria - - 2010
The case we describe reports the early sonographic findings of sirenomelia with oligodactylia at 9 weeks of gestation by transvaginal two-dimensional color Doppler ultrasonography imaging and its confirmation by hysteroscopic embryoscopy at 12 weeks to further characterize the findings. The embryo showed increased nuchal translucency and fused lower limbs with ...
Fischer Jill - - 2010
To determine if preimplantation genetic diagnosis (PGD) for translocation carriers with three or more pregnancy losses reduces loss rates. Retrospective review of data. Preimplantation genetic diagnosis laboratory servicing IVF groups. Patients (n = 192) undergoing PGD for either a reciprocal translocation or Robertsonian translocation who had three or more previous ...
Lin Chin-Yi - - 2009
OBJECTIVE: To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. CASE REPORT: A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ...
Tonni Gabriele - - 2009
Abstract A prenatal ultrasound diagnosis of epignathous in a dichorionic-diamniotic twin pregnancy is reported. A complex mass protruding from the fetal face was seen at week 19. Amniocentesis resulted in a 46,XX fetus with elevated -FP. Increase in tumor size and severe polyhydramnios ensued. Selective feticide performed at 22 weeks ...
Li Ying - - 2009
Preimplantation genetic diagnosis (PGD) is usually used to establish a non-affected pregnancy for those couples facing a genetic risk of having an affected child. However, an invasive test is still recommended to all PGD patients due to the risk of misdiagnosis. The discovery of cell-free fetal DNA in maternal plasma ...
Gagnon Alain - - 2009
OBJECTIVE: To provide information to genetic counsellors, midwives, nurses, and physicians who are involved in the prenatal care of women dealing with prenatally diagnosed isolated or multiple structural congenital anomalies. OUTCOMES: To provide better counselling for women and families who are dealing with the diagnosis of a fetal structural anomaly. ...
Zyblewski Sinai C SC Department of Pediatric Cardiology, Medical University of South Carolina, Charleston, SC 29425, USA. - - 2009
This study aimed to identify the variables that influence parental treatment decisions after a prenatal diagnosis of congenital heart disease (CHD). The authors reviewed all cases of prenatally diagnosed structural CHD from August 1998 to December 2006 at their center. The following variables were studied as potential predictors of parental ...
Ajibola Ayodeji J - - 2010
We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The ...
Hyland Catherine A - - 2009
OBJECTIVE: To evaluate a non-invasive molecular test using free circulating fetal DNA in maternal plasma to predict the fetal RHD type. DESIGN: A prospective cohort study. PARTICIPANTS AND SETTING: Venous blood samples were collected from 140 Rhesus (Rh) D-negative women booked for antenatal care in two tertiary maternity hospitals in ...
Tabor A - - 2009
OBJECTIVE: To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS). METHODS: This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal registration numbers ...
Gardener Hannah - - 2009
The aetiology of autism is unknown, although prenatal exposures have been the focus of epidemiological research for over 40 years. To provide the first quantitative review and meta-analysis of the association between maternal pregnancy complications and pregnancy-related factors and risk of autism. PubMed, Embase and PsycINFO databases were searched for ...
Garne Ester - - 2010
OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include information about livebirths, fetal deaths with GA > or = 20 ...
Maddocks Deborah G - - 2009
After the revolutionary detection of ffDNA (free fetal DNA) in maternal circulation by real-time PCR in 1997 and advances in molecular techniques, NIPD (non-invasive prenatal diagnosis) is now a clinical reality. Non-invasive diagnosis using ffDNA has been implemented, allowing the detection of paternally inherited alleles, sex-linked conditions and some single-gene ...
Kolialexi Aggeliki - - 2009
Proteomic technologies represent new strategies towards high-throughput, simultaneous analysis of thousands of biological molecules leading to the discovery of biomarkers for early diagnosis, prognosis and prediction of pregnancy outcome. Proteomics have additional relevance in understanding pathophysiology and the development of molecularly targeted therapeutics. Comparison of normal human amniotic fluid proteome ...
Kibar Yusuf - - 2009
OBJECTIVE: To assess parental satisfaction with e-mail consultations and fetal outcomes after consultation for offspring with 45,X/46,XY mosaicism. PATIENTS AND METHODS: A chart review was performed of prenatal and postnatal e-mail consultations concerning 45,X/46,XY mosaicism at our institution. Prenatally, mosaicism was detected by amniocentesis; postnatally by phenotype and subsequent genotyping. ...
Tang Dong-ling - - 2009
OBJECTIVE: To develop a fluorescent polymerase chain reaction (PCR) assay for the detection of circulating fetal DNA in maternal plasma and use the established multiplex in noninvasive prenatal genetic diagnosis and its further applications in forensic casework. STUDY DESIGN: The DNA template was extracted from 47 pregnant women and the ...
Holmes Lewis B - - 2009
Chorionic villus sampling (CVS) is a widely used and safe method of prenatal diagnosis. In the 1990s, concerns were raised at several medical centers that there was an increased risk to the exposed fetus for the occurrence of limb deficiencies, hemangiomas, and other vascular disruption defects. The risk was greater ...
Yokoi Kyoko - - 2009
Holocarboxylase synthetase (HCS) deficiency is an inborn error of biotin metabolism, leading to a multiple carboxylases deficiency. As the affected fetus sometimes presents with enlargement of the cerebral ventricles and intrauterine growth retardation (IUGR), prenatal administration of biotin has been attempted in some pregnancies. We present herein the case of ...
Daniels Geoff - - 2009
Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D-positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is ...
Kyle Pippa M - - 2009
AIMS: To establish the accuracy of prenatal diagnosis in a tertiary referral fetal medicine unit by comparing those diagnoses made prenatally with diagnoses made at birth until discharge, and with postmortem information from cases that resulted in termination, intrauterine, or neonatal death. METHODS: All cases seen in the Fetal Medicine ...
Vaknin Zvi - - 2009
BACKGROUND/AIMS: To assess the indications for late termination (> or =23 weeks' gestation) of pregnancy (LTOP), and to evaluate the rate of cases potentially diagnosable earlier. METHODS: Cases of singleton pregnancy ending in LTOP due to fetal abnormalities in our institute between 1/1998 and 12/2005 were retrospectively reviewed. The women ...
Zhong Xiao Yan - - 2009
Prenatal diagnosis aims either to provide the reassurance to the couples at risk of having an affected child by timely appropriate therapy or to give the parents a chance to decide the fate of the unborn babies with health problems. Invasive prenatal diagnosis (IPD) is accurate, however, carrying a risk ...
Dosedla E - - 2009
We report about the prenatal diagnosis of pentalogy of Cantrell in the third trimester. In this case sonographic evaluation revealed mild form of ectopia cordis, severe omphalocele, small meningomyelocele, mild hydrocephalus, severe polyhydramnios and allantoic cyst of the umbilical cord. The pregnancy was terminated by a caesarean section at 35 ...
Delbecque Katty - - 2009
Type VII mucopolysaccharidosis is a very rare recessive lysosomal storage disease. We diagnosed a type VII MPS in a case of severe fetal hydrops after pregnancy termination at 23 weeks of gestation. The diagnosis was suspected on histopathological examination by the presence of foam cells in many viscera and foamy ...
Bornstein Eran - - 2009
AIMS: Recent advances in prenatal screening, including first and second trimester genetic screening as well as targeted sonography, have significantly improved the detection of trisomy 21. Therefore, several investigators have questioned the validity of recommending genetic amniocentesis to all women who are 35 years or older at delivery. Thus, we ...
Rao Pravin K - - 2009
The majority of pregnant women in the U.S. undergo prenatal ultrasonography and approximately 0.5% of these examinations will detect fetal malformations. Up to one-half of these abnormalities include the genitourinary system and the most common urological finding is hydronephrosis. Some conditions associated with prenatal hydronephrosis portend a poor prognosis, while ...
Ajayi G O - - 2009
OBJECTIVE: To assess factors that might influence the success rate, safety and reliability of chorionic villus sampling (CVS). DESIGN: Analysis of the outcome of 350 cases of CVS (215 transabdominal and 135 transvaginal). SETTING: The outpatient prenatal diagnosis and therapy laboratory of a university tertiary care centre. SUBJECTS: 350 pregnant ...
Tica V I - - 2009
Anencephaly is an embryological malformation of the central nervous system, invariable lethal, characterized by the absence of the brain and cranial vault and by other defects of the cranial structures. It has no cure but it can be detected during the pregnancy with ultrasonography. We present a rare case of ...
Friedman J M - - 2009
Array genomic hybridization (AGH) can detect chromosomal gains or losses that are 100 times smaller than those identifiable by conventional cytogenetic methods. Genome-wide AGH can identify genomic imbalance that causes birth defects and mental retardation at least twice as frequently as conventional cytogenetic analysis. Using AGH as a prenatal test ...
Calda P - - 2009
Intestinal dilatation and hyperechogenic bowel, some typical ultrasonographic features of anorectal malformation, were found in the 21st week of a singleton pregnancy. These findings were associated with unilateral renal agenesis and a single umbilical artery. All prenatally diagnosed anomalies were confirmed postpartum. Development of the sonographic appearance of the anorectal ...
Supadilokluck Siraprapa - - 2009
OBJECTIVE: To describe the experiences in diagnostic amniocentesis in twin pregnancies. METHODS: The computerized database and medical records of pregnant women attending Maternal Fetal Medicine Unit of the hospital for diagnostic amniocentesis at 16-20 weeks gestation between January 1992 and December 2006 were retrospectively reviewed. RESULTS: During 15 years of ...
Whyatt Robin M - - 2009
We previously documented significant decreases in chlorpyrifos concentrations in maternal personal and indoor air samples among pregnant African-American and Dominican women from New York City after the 2000-2001 restrictions on its residential use. We undertook a biomarker validation study within the same cohort to evaluate trends over time in multiple ...
Cui Ying-Xia - - 2008
Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal ...
Solomon Benjamin D - - 2008
The prevalence of paternal and maternal genetic conditions that affect pregnancy varies according to many factors that include parental age, medical history, and family history. Although some genetic conditions that affect pregnancy are identified easily early in life, other conditions are not and may require additional diagnostic testing. A complete ...
Campeau Philippe M - - 2008
Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two patients with monosomy 1p36 who had brain abnormalities detected on prenatal ultrasound. The first patient was ascertained prenatally with ultrasound abnormalities, including ventriculomegaly, a single umbilical artery, a unilateral club foot, a ventricular septal defect, and intra-uterine growth retardation. ...
Bustamante-Aragones A - - 2008
The presence of cell-free fetal DNA in maternal plasma could allow performing a non-invasive prenatal diagnosis of Huntington disease (HD). The great advantage of this diagnosis is the absence of risk of fetal loss that it entails. Maternal plasma from four pregnant women in their first trimester of gestation with ...
Swanson Tara M TM Department of Cardiology, Children's Hospital Boston, Boston, MA 02115, USA. - - 2009
Limited data exist on the impact of prenatal diagnosis and outcomes of fetal truncus arteriosus (TA). We sought to assess prenatal diagnostic accuracy and prenatal outcomes in fetuses with TA and compare postnatal outcomes in neonates with prenatally and postnatally diagnosed TA. Records were reviewed for patients diagnosed with TA ...
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