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Mastrobattista Joan M - - 2008
Hydrocephalus is a pathological increase in cerebrospinal fluid. This condition may occur when production exceeds absorption. Prior reports describe prenatally diagnosed unilateral hydrocephalus with varying outcomes depending on underlying brain abnormalities, karyotypic abnormalities, and infection. Prenatal ultrasound is a valuable diagnostic tool in the identification of hydrocephalus. Obstacles such as ...
Laurichesse Delmas H - - 2008
OBJECTIVES: To describe and assess the sonographic findings, evolution and clinical implications of thrombosis of the fetal dural sinuses. METHODS: We compiled a multicenter report of the outcomes of five cases with a prenatal diagnosis of thrombosis of the dural sinuses, and one case in which thrombosis of the dural ...
Vecchione Gennaro - - 2008
Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis. In the majority of cases, the Y chromosome-specific sequences are commonly used as a fetus-specific marker with a high risk of false-negative cases. We attempted to develop a sensitive and reliable ...
Ferrara Lauren - - 2008
OBJECTIVE: The objective of the study was to determine whether patients undergoing chorionic villus sampling (CVS) prior to MPR are at increased risk for adverse outcome compared to those who did not. STUDY DESIGN: We retrospectively identified multifetal pregnancy reduction (MPR) patients from an established database. Maternal demographic data were ...
Bustamante-Aragones Ana - - 2008
Prenatal diagnosis (PD) is available to families affected with propionic acidemia (PA), however, it entails a risk of miscarriage. Fetal DNA circulating in maternal blood could allow performing a safe prenatal diagnosis of fetal mutations. Exclusion of the paternal mutation in maternal plasma may avoid conventional PD in cases of ...
Street A M - - 2008
Although up to 30% of babies born with haemophilia do not have a family history of the disorder, the remaining 70% are born in families where haemophilia has been diagnosed. It has been estimated that for each male with haemophilia, there are five potential female carriers. Such women will benefit ...
Hurst Jane - - 2008
Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this ...
Houben C H - - 2008
Ultrasonographic features suggestive of esophageal atresia with or without tracheo-esophageal fistula (EA/TEF) are only in a small minority of fetuses with EA/TEF (<10%) identifiable on prenatal scans.The prenatal diagnosis of EA/TEF relies in principle, on two nonspecific signs: polyhydramnios and absent or small stomach bubble. Polyhydramnios is associated with a ...
Thilakavathy Karuppiah - - 2008
Fetal cells and circulating cellfree fetal DNA increases in the maternal circulation in women carrying trisomy 21 fetus. We attempted the use of superoxide dismutase (SOD-1) gene, which is located at the Down Syndrome Critical Region, to overcome this situation for the prenatal screening of Down syndrome. The prospective of ...
Bustamante-Aragones Ana - - 2008
BACKGROUND: Since the presence of fetal DNA was discovered in maternal blood, different investigations have focused on non-invasive prenatal diagnosis. The analysis of fetal DNA in maternal plasma may allow the diagnosis of fetuses at risk of cystic fibrosis (CF) without any risk of fetal loss. Here, we present a ...
Lalioti Maria D - - 2008
PURPOSE OF REVIEW: Preimplantation genetic diagnosis is widely used for the detection of embryo aneuploidy before implantation, with the aim of avoiding miscarriage or pregnancy termination of an aneuploid fetus. The majority of first trimester miscarriages occur due to chromosomal imbalances. The aim of this review is to assess whether ...
Picchiassi Elena - - 2008
OBJECTIVES: Detection of free fetal DNA (ffDNA) in maternal blood during pregnancy has given rise to the possibility of developing new noninvasive approaches for early prenatal diagnosis. On a large-scale study, two protocols of real-time polymerase chain reaction (PCR) were compared in order to establish which Y-specific locus, either multicopy ...
Geifman-Holtzman O - - 2009
BACKGROUND: The successful prevention of RhD disease has brought attention to other red blood cells' antigens causing alloimmunisation including RhC/c and RhE/e. Prenatal diagnosis of fetal Rh genotype from maternal blood is in clinical use in Europe but not in the USA. OBJECTIVE: To estimate the collective reported diagnostic accuracy ...
Ndumbe F M - - 2008
In the past 2 decades, the second trimester of pregnancy has been the most common time for prenatal diagnosis of fetal anomalies and chromosomal aneuploidies. More recently, screening for and diagnosis of chromosomal abnormalities are increasingly being performed in the first trimester. With improvements and technological advances in ultrasound, it ...
Bustamante-Aragones A - - 2008
The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X-linked disorder such as haemophilia. This ...
Lin I-Wen - - 2008
OBJECTIVE: To present the application of three-dimensional (3D) ultrasonography in the early prenatal diagnosis of fetal arthrogryposis. CASE REPORT: A 26-year-old multipara had a fetus with anomalies of the limbs as shown by conventional ultrasonography at 18 weeks of gestation. A follow-up 3D ultrasonogram at the same gestational age was ...
Odibo Anthony O - - 2008
OBJECTIVE: To estimate an institution's specific fetal loss rate after a second-trimester genetic amniocentesis. METHODS: This is a retrospective cohort study using our prenatal diagnosis database for all pregnant women presenting for care between 1990 and 2006. We compared the fetal loss rate in women who underwent amniocentesis between 15 ...
Patel Prerna - - 2008
With increasing ability to diagnose fetal anomalies, it is imperative that parents receive appropriate counselling to reach their decision. The aim of this study was to evaluate the fetomaternal-surgical clinic held jointly by an obstetrician and a paediatric surgeon. At this monthly clinic the patients are first scanned by the ...
Avent Neil D - - 2008
Non-invasive prenatal diagnosis (NIPD) offers the opportunity to eliminate completely the risky procedures of amniocentesis and chorionic villus sampling. The development of NIPD tests has largely centred around the isolation and analysis of fetal cells in the maternal circulation and the analysis of free fetal DNA in maternal plasma. Both ...
Finning Kirstin M - - 2008
Prenatal fetal sex determination is undertaken in women at high risk of serious genetic disorders affecting a specific sex. Traditionally, this is undertaken by invasive testing, usually chorionic villus sampling, which carries a risk of miscarriage of around 1%. The identification of cell-free fetal DNA in the maternal circulation has ...
van der Schoot C Ellen - - 2008
RhD blood group incompatibility between a pregnant woman and her fetus can result in maternal alloimmunization and consequent haemolytic disease of the newborn (HDN) in subsequent pregnancies. The D-negative blood group is found in 15% of whites, 3-5% of black Africans, and is rare in Asians. Recent technological advances in ...
Alberry M S - - 2008
There has been a huge effort in the last 2-3 decades to develop non-invasive prenatal diagnosis to avoid the risks to the fetus caused by invasive procedures. Obtaining fetal nucleic material for molecular analysis without the need of invasive procedures has been a goal of prenatal diagnosis for many years; ...
Norbury Gail - - 2008
Analysis of cell free fetal DNA (cffDNA) in maternal plasma provides the opportunity for reliable, timely, safe and cost-effective diagnosis of single gene disorders. The detection of certain fetal loci using cffDNA and conventional molecular analytic approaches is possible from 4 weeks gestation. To date, non-invasive first-trimester analysis for single ...
Kasperski Stefanie B - - 2008
OBJECTIVES: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy. METHODS: A consanguineous couple, with a history of a child with a clinical diagnosis of NM but no molecular genetic confirmation, was referred for prenatal diagnosis in two subsequent pregnancies. Fetal muscle biopsy with ultrasound ...
Shaw Sheng-Wen - - 2008
OBJECTIVE: Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). METHODS: Thirty-three members of 7 families participated in carrier test and disease detection of SMA. Prenatal genetic diagnosis was performed if both parents were carriers or any family members had SMA. DNA extracted from ...
Barken Sidsel S - - 2008
The study objective was to determine the parental origin of triploidy in relation to findings from early risk assessment in a combined screening program between 2004 and the end of 2006. Triploidy was diagnosed in six chorion villus samples and two samples from missed abortions. After informed consent, quantitative fluorescence ...
Theodoridou Stamatia - - 2008
Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and thalassemias are the most frequent genetic disorders in Greece. Over a 5-year period (2002-2006), 1,375 couples were screened for hemoglobinopathies and counseled at our Thalassaemia Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. In 148 cases (10.7%), both partners carried an abnormal hemoglobin ...
Nikuei Pooneh - - 2008
beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where ...
Gaudry P - - 2008
OBJECTIVES: Counseling on prenatal diagnosis requires accurate knowledge of the associated risks, including fetal loss. The objective of our study was to assess this risk of amniocentesis in a single center with several operators. METHODS: This retrospective analysis concerns only women with singleton pregnancies who underwent amniocentesis between 14(+0) and ...
Taner M Zeki - - 2008
Achondrogenesis is a lethal osteochondrodysplasia characterized by hypoplasia of the bones and is associated with various anomalies varying in severity. Based on clinical, radiologic, and histopathologic features, two types are distinguished. The prenatal ultrasound examination of a 32-year-old Turkish woman who was referred to our clinic at 33 weeks and ...
Staboulidou Ismini - - 2008
BACKGROUND: Epignathus is a rare form of congenital teratoma, originating from the base of the skull, most commonly the hard palate, or mandible. It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions. It is ...
Puhl A G - - 2008
OBJECTIVE: To elucidate the differential diagnoses of tumorous dilations in the fetal pelvic region detected by prenatal ultrasound and the postnatal management demonstrated on a fetus with 29 weeks of gestation with a retrovesical located bottle-like cystic structure measuring 54 x 31 x 27 mm within the pelvis. Postnatal findings ...
Shen Q - - 2008
Exposure to prenatal undernutrition or malnutrition increases the risk of schizophrenia, although little is known about the mechanism. Pro-inflammatory factors are critical in brain development, and are believed to play an important role in neurodevelopmental disorders associated with prenatal exposure to infection, including schizophrenia. However it is not known whether ...
Sekizawa Akihiko - - 2007
Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic ...
Dickinson Jan E - - 2007
OBJECTIVE: To review the frequency of autopsy following pregnancy termination for fetal anomaly and its contribution to subsequent counselling. METHODS: All medical pregnancy terminations for fetal anomaly performed after 14 weeks gestation from January 1997 to December 2006 were identified and the frequency of autopsy ascertained. The prenatal diagnosis prompting ...
Kakourou Georgia - - 2008
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of DMPK. Prenatal diagnosis (PND) is available; however, the decision to terminate affected pregnancies is difficult as the extent of disability is hard to predict from the size of ...
Sarhan Osama - - 2008
PURPOSE: Management of posterior urethral valves is significantly modified by the prenatal diagnosis. Our aim was to assess long-term outcome of children with prenatally detected posterior urethral valves treated at our institution by primary valve ablation without routine urinary drainage or diversion. MATERIALS AND METHODS: A total of 79 cases ...
O'Donoghue Keelin - - 2007
BACKGROUND: Amniocentesis in the third trimester, which reduces risks of procedure-related miscarriage but still allows termination of affected fetuses, may be applicable in some pregnancies. The implications of deferring amniocentesis include complications, delivery before the test and increased amniotic fluid culture failure rates. We investigated the indications, complications, karyotype results ...
Picone Olivier - - 2008
OBJECTIVE: To assess the complications of third-trimester amniocentesis for fetal karyotyping in women unwilling to accept the fetal loss risks of second-trimester amniocentesis. METHODS: Retrospective study of singleton pregnancies that underwent a third-trimester amniocentesis for karyotyping. 150 complete charts between 1998 and 2005 were reviewed. RESULTS: The indications were: isolated ...
Aslan H - - 2007
OBJECTIVES: To assess the indications of termination of pregnancy (TOP) for fetal anomaly beyond 22 weeks of gestation. METHODS: All pregnant women who underwent TOP for fetal anomaly between January 2002 and December 2006 were divided into 2 groups: group 1 (< or =22 weeks of gestation); and group 2 ...
Sekizawa Akihiko - - 2007
BACKGROUND: A considerable effort is being spent in developing noninvasive prenatal DNA diagnostic procedures. We recently reported that nucleated erythrocytes (NRBCs) can be enriched from maternal blood by a galactose-specific lectin method. In the present study, to prove that fetal NRBCs are definitely present in maternal blood and are a ...
David Anna L - - 2007
OBJECTIVES: To determine the cause of and devise a management strategy for holoprosencephaly cases seen at a regional tertiary referral fetal medicine unit. METHODS: Holoprosencephaly cases referred to University College London Hospital's Fetal Medicine Unit in the past 15 years were ascertained from a fetal database. We examined maternal, neonatal, ...
Cram David - - 2007
Over the last 30 years prenatal diagnosis has been available to couples at genetic risk to determine the genetic health of a naturally conceived pregnancy. Prenatal diagnosis involves fetal cell sampling either by chorionic villous sampling at 10-12 weeks or by amniocentesis at 12-15 weeks gestation and testing for genetic ...
Baulies S - - 2007
OBJECTIVE: To evaluate the role of ultrasound in prenatal diagnosis of vasa praevia (VP) and to asses the risk of VP associated with different causal factors. MATERIAL AND METHODS: A retrospective study of the incidence of VP in a series of 12,063 deliveries between January 2000 and March 2005. We ...
Adusumalli Jasvant - - 2007
OBJECTIVE: This study was undertaken to evaluate the relationship between chorionic villus sampling at 10-13 weeks' gestational age and hypertensive disorders of pregnancy. STUDY DESIGN: The prevalence of hypertensive disorders of pregnancy in women with singleton gestations, undergoing transcervical or transabdominal chorionic villus sampling between 10 weeks 0 days' and ...
Ozkur Ayhan - - 2007
Hemangiolymphangioma (HL) is an extremely rare malformation of both the lymphatic and blood vessels. We present a case of fetal axillary HL that was diagnosed sonographically at 36 weeks' gestation. Sonographic examination revealed a large, multilocular, cystic mass consistent with lymphangioma. At birth, a giant hemangioma was noticed involving the ...
Steffann J - - 2007
Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at-risk couples often ask for prenatal diagnosis (PND). However, because heteroplasmy load (coexistence of mutant and wild-type mtDNA) may vary among ...
Spits C - - 2007
OBJECTIVES: Mutations in the APC, NF2 and BRCA1 genes cause adult-onset cancer predisposition syndromes. Prenatal diagnosis (PND) and selective pregnancy termination for adult-onset disorders is emotionally difficult and, in some cases, socially not well accepted. Preimplantation genetic diagnosis (PGD) appears as an attractive alternative to PND, as it ensures the ...
Rodríguez L - - 2007
We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended ...
Jung Camille - - 2007
OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end-stage liver disease during childhood. We report our experience of DNA-based prenatal diagnosis of PFIC1-3 and Alagille syndrome. PATIENTS AND METHODS: Four molecular antenatal diagnoses were performed in 3 PFIC families and 17 in ...
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