Search Results
Results 401 - 450 of 912
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Hsu Jenn-J - - 2003
SUBJECTS: To evaluate second-trimester maternal serum inhibin A levels in Asian pregnancies with fetal Down syndrome and other chromosomal abnormalities. METHODS: Inhibin A level was measured from the serum samples of 25 chromosomally abnormal pregnancies, including 15 cases of Down syndrome, 4 cases of trisomy 18, 1 case of trisomy ...
Spencer Kevin - - 2003
OBJECTIVE: To evaluate the performance of a one-stop multidisciplinary clinic of screening for fetal chromosomal anomalies in the first trimester of pregnancy by a combination of maternal serum biochemistry and ultrasonography. DESIGN: Retrospective review of screening performance. SETTING: District General Hospital maternity unit. POPULATION: All women booked for routine antenatal ...
Palomaki Glenn E - - 2003
OBJECTIVES: To estimate the prenatal screening performance of an integrated serum test for detecting trisomy 18, which combines measurements of first- and second-trimester markers with maternal age to assign patient-specific risks. METHODS: Published and new observations of maternal serum marker levels in trisomy 18 and unaffected pregnancies are used to ...
Spencer Kevin - - 2003
OBJECTIVE: To evaluate the performance of screening for fetal trisomy 21 in the first trimester of twin pregnancies by a combination of maternal serum biochemistry and ultrasonography. DESIGN: Three year retrospective review of screening performance. SETTING: District General Hospital maternity unit. POPULATION: All women booked to receive routine antenatal care ...
Bersinger N A - - 2003
OBJECTIVE: To study PAPP-A and SP1 for biochemical trisomy screening in twin pregnancies and to investigate the role of maternal and placental compartments in marker production by comparing the levels of the decidual cytokine M-CSF with the PAPP-A and SP1 from the placenta. METHODS: Thirteen twin pregnancies with at least ...
Bunduki V - - 2003
OBJECTIVES: Fetuses with trisomy 21 typically present with subtle facial abnormalities, including a hypoplastic nasal bone. The aim of this study was to provide a reference range for the length of the fetal nasal bone and to test its value in second-trimester ultrasound screening for trisomy 21. DESIGN: A reference ...
Daniel Art - - 2003
OBJECTIVE: To design a scheme to rank sonographic anomalies as indicators of aneuploidy and record the distribution of data from 2143 prenatal amniotic fluid/chorionic villous sample diagnoses referred for karyotyping because of fetal anomalies detected with ultrasound. METHODS: In all cases the records of sonographic anomalies were obtained prior to ...
Ozkinay Ferda - - 2003
A baby born to an epileptic mother had dysmorphological features associated with 47,XXX karyotype. The mother had been treated with valproic acid (1800mg per day) and lamotrigine (100mg per day) throughout pregnancy. Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, ...
Rauen Katherine A - - 2003
OBJECTIVE: To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism. DESIGN: Case report. SETTING: University department. PATIENT(S): The 23-year-old proband had a history of cleft palate, mixed bilateral hearing loss, short stature, and developmental delay. She had dysmorphic craniofacial features, mild musculoskeletal ...
Kuwata T - - 2003
An umbilical cord pseudocyst was detected in the 28th week of gestation in a fetus complicated with growth restriction and polyhydramnios. The combination of cord pseudocysts, growth restriction, and polyhydramnios prompted us to perform a detailed ultrasonographic examination (gray scale and three-dimensional), which revealed the presence of micrognathia, overlapping fingers, ...
Hobbins John C - - 2003
OBJECTIVE: A multicenter study was undertaken to evaluate the diagnostic efficacy of a genetic sonogram. METHODS: Eight centers provided data on 176 pregnancies complicated by fetal Down syndrome. One hundred thirty-four pregnancies were considered high risk because of advanced maternal age (> 35 years), and 42 were considered high risk ...
Jamar M - - 2003
From January 1st 1990 until December 31st 2001, we collected 19686 prenatal diagnosis (on amniocentesis and chorius villus sampling). Five hundred twelve samples (2.6%) concerned 278 twin pregnancies. The most frequent indications were maternal age > or = 35 years (108/278 = 38.8%), medically assisted procreation (34/278 = 12.3%), positive ...
Hsu Jenn-Jeih - - 2003
BACKGROUND: To investigate normal reference values of nuchal translucency (NT) thickness in normal Taiwanese fetuses between 11 and 14 weeks of gestation. METHODS: A prospective study of ultrasound measurements of fetal NT and crown-rump length (CRL) at 11-14 weeks of gestation was conducted in 724 consecutive Taiwanese fetuses between 1998 ...
Markov D - - 2003
A case of bilateral cleft lip and palate associated with increased fetal nuchal translucency detected at 14 weeks of gestation in a cocaine abusing pregnant woman is presented. There were no other associated structural or chromosomal abnormalities. We propose that systematic examination in both the sagittal and parasagittal plane of ...
Lee P R - - 2003
OBJECTIVES: To find out variables that have an effect on the measured values of nuchal skin-fold thickness (NT) and to formulate a regression equation on the basis of those variables. METHODS: The data on gestational age (GA), cephalic index (CI), presentation (Pr, vertex or breech), and the presence or absence ...
Staals J E A - - 2003
Trisomy 12 mosaicism is a rare chromosomal mosaicism in prenatal diagnosis by amniocentesis. In the literature we found at least 27 cases. 13 Pregnancies were terminated, with multiple congenital anomalies (MCA) in 2 out of 13. Of the 12 liveborns with follow-up ranging from 0 to 5 years, 5 presented ...
Cicero S - - 2003
OBJECTIVE: To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21. METHODS: This was an observational ultrasound study in 1046 singleton pregnancies undergoing amniocentesis for fetal karyotyping at 15-22 (median, 17) weeks' gestation. ...
Belics Zoran - - 2003
OBJECTIVE: To determine whether iliac wing angle measurement in second trimester fetuses is a useful sonographic marker for the detection of trisomy 21, 18 and 13. METHODS: During the period between September 1998 and September 2001, 406 fetal iliac angle measurements were performed in women in the second trimester of ...
Beever C L - - 2003
An increase in extremely skewed X-chromosome inactivation (XCI) (> or = 90%) among women who experienced recurrent spontaneous abortion (RSA) has been previously reported. To further delineate the etiology of this association, we have evaluated XCI status in 207 women who experience RSA. A significant excess of trisomic losses was ...
Larsen Severin Olesen - - 2002
The influence of fetal gender on the level in the first trimester of the serological markers alpha-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (betahCG) and on nuchal translucency is described for 2637 singleton pregnancies with normal outcome. Mean log MoM values for pregnancies with female ...
Robinson Wendy P - - 2002
OBJECTIVE: To investigate presence of trisomy in amniotic epithelium (uncultured amnion) and mesenchyme (cultured amnion) from mosaic cases to understand the origins of these tissues and their relationship to pregnancy outcome. METHODS: Polymerase chain reaction (PCR) of microsatellite loci was used to determine the presence of trisomy (of meiotic origin ...
Witters Ingrid - - 2002
The etiology of the fetal akinesia deformation sequence (FADS) is heterogeneous and can be the result of neurogenic and myopathic disorders, restrictive dermopathy, teratogen exposure, and intrauterine constraint. We present the prenatal and fetopathological findings in a consecutive series of 30 affected fetuses with normal chromosomal results. According to the ...
Bahado-Singh Ray O - - 2002
OBJECTIVE: The purpose of this study was to determine the Down syndrome sensitivity of early genetic sonography (14-<16 weeks of gestation) and to compare its diagnostic accuracy with that later in the mid trimester (16-24 weeks of gestation). STUDY DESIGN: Nuchal thickness, humerus and femur lengths, hyperechoic bowel, hypoplastic fifth ...
Moran C J - - 2002
OBJECTIVES: To determine the prenatal detection rate of abnormality (fetal anomaly or growth restriction) in pregnancies complicated by fetal trisomies 21, 18 and 13 in an obstetric population managed without routine biochemical or sonographic screening tests and to assess the perinatal outcome of these pregnancies. SUBJECTS AND METHODS: This was ...
Bétrémieux Pierre - - 2002
OBJECTIVES: To assess the prognosis of prenatally diagnosed congenital diaphragmatic hernia (CDH) during the years 1995-2000 in order to improve prenatal counselling. METHODS: Retrospective study of all 31 cases of women with prenatally diagnosed CDH. RESULTS: Nine pregnancies (29%) were terminated and two fetuses (6%) were stillborn. Ten fetuses (32%) ...
Tongsong Theera - - 2002
OBJECTIVE: To evaluate the sonographic characteristics of the fetuses with trisomy 18 at 16-22 weeks of gestation. METHODS: The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 16-22 weeks of gestation and subsequently proven to be trisomy 18. The results of ultrasound findings were retrospectively reviewed in ...
Venkataraman Geetha - - 2002
We report the case of 48,XYYY in a fetus resulting from ICSI treatment in a chromosomally normal couple. A 35 year old couple underwent an ICSI treatment resulting in a maintained clinical pregnancy. Amniocentesis at 13 weeks identified the Triple-Y syndrome in the fetus. Both the parents had normal karyotypes ...
Spencer Kevin - - 2002
This study examines 45 cases of trisomy 13 and 59 cases of trisomy 18 and reports an algorithm to identify pregnancies with a fetus affected by trisomy 13 or 18 by a combination of maternal age fetal nuchal translucency (NT) thickness, and maternal serum free beta-hCG and PAPP-A at 11-14 ...
Mulvey Sheila - - 2002
It appears from current evidence that the most effective screening strategy for Down syndrome will involve a combination of first trimester nuchal translucency and serum biochemistry, whether performed in the first or second trimester. The aim of this study was to determine the optimum gestation based upon menstrual dates at ...
Souka A P - - 2002
Perinatal hypophosphatasia is a lethal autosomal recessive skeletal abnormality with a birth prevalence of about 1 per 100 000. It is characterized by deficiency of the tissue-nonspecific isoenzyme of alkaline phosphatase causing abnormal bone mineralization. In the two affected fetuses from the same family ultrasound examination at 14 and 12 ...
Amiel A - - 2002
Comparative genomic hybridization (CGH) was applied to samples taken from various sites of placentas originating from complicated pregnancies: 24 with intrauterine growth restriction (IUGR), one with multiple fetal malformation, one with toxemia, one with hydrocephalus and two with undetectable maternal serum alpha-fetoprotein (MSAFP). One of the most common aberrations in ...
Tsai Ming-Song - - 2002
Increased fetal nuchal translucency (NT) in the first trimester is associated with adverse pregnancy outcomes. Whether the increased NT is also associated with an increased frequency of pregnancy-associated hypertension (PAH) is not known. Seven hundred and seventy-nine pregnant women who received NT-based Down syndrome screening and delivered their babies at ...
Yaron Yuval - - 2002
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 whether low ...
Maymon R - - 2002
OBJECTIVE: The current study aims to assess the relative risk of isolated increased nuchal translucency (NT) in consecutive normal pregnancies. METHODS: A retrospective search of the fetal medicine unit database in which NT assessment was conducted. Only singleton fetuses with an unremarkable pregnancy outcome were included in this study. The ...
Mavrides Eleni - - 2002
OBJECTIVE: To assess the role of ductus venosus Doppler assessment in screening for fetal aneuploidy in pregnancies at 11-14 weeks of gestation. DESIGN: Prospective observational study. SETTING: A tertiary referral fetal medicine unit. POPULATION: Two hundred fifty-six consecutive pregnancies between 11 and 14 weeks of gestation referred to our unit. ...
Bindra R - - 2002
OBJECTIVE: To evaluate the performance of a one-stop clinic for assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation. METHOD: Screening for trisomy ...
Binkert Franz - - 2002
To investigate the impact of prenatal diagnosis on trisomy 21 live births, we collected all prenatal and postnatal trisomy 21 cases (n = 1096) in the eastern half of Switzerland for the years 1980-1996. Despite increasing prenatal detection rates of trisomy 21 foetuses (an increase of 169% in the last ...
Rickert Christian H - - 2002
CASE REPORT: We present the first application of comparative genomic hybridisation (CGH) in fetal brain tumours in the case of a fetal immature teratoma. The tumour was discovered in a female fetus at 22 weeks gestation after presentation with significant craniomegaly of such degree that the head size measured by ...
von Kaisenberg C S - - 2002
OBJECTIVE: To examine the effectiveness of screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum biochemistry using free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation. METHODS: This was a multicenter study of screening for ...
Chen Min - - 2002
INTRODUCTION: Fetal nuchal translucency (NT) increases with gestation and is affected by fetal posture and fetal gender. A recent report suggested that there might also be ethnic differences. We investigated the effect of ethnic origin on NT in an Asian population. METHODS: NT was measured at 10-14 weeks. The measurements ...
Paladini Dario - - 2002
OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD ...
Muller Françoise - - 2002
Trisomy 21 maternal serum marker screening has led to screening for other anomalies, including trisomy 18. Trisomy 18 is generally prenatally diagnosed because of major morphological defects. However, in up to 30% of cases ultrasound signs are unclear, and in most cases diagnosis is performed late in pregnancy. Of the ...
Iyer Krishna V - - 2003
Fetus in fetu is an extremely rare developmental abnormality secondary to abnormal embryogenesis in a diamniotic monochorionic pregnancy. It occurs when a vertebrate fetus is enclosed within the abdomen of a normally developing fetus. This report describes the prospective diagnosis of fetus in fetu by findings on a plain radiograph ...
Cicero S - - 2002
OBJECTIVE: To determine the value of measuring fetal nasal bone length at 11-14 weeks of gestation in screening for chromosomal defects. METHODS: The fetal profile was examined and the nasal bone length was measured in 1092 fetuses immediately before chorionic villous sampling for karyotyping at 11-14 weeks of gestation. RESULTS: ...
Crossley Jennifer A - - 2002
OBJECTIVE: To evaluate the use of ultrasound measurements of fetal nuchal translucency (NT) obtained in a routine antenatal clinic setting in combination with appropriate biochemical markers as a first trimester screening test for Down's Syndrome. DESIGN: Multicentre observational study. SETTING: Fifteen Scottish maternity units. POPULATION: Pregnant women (n = 17,229) ...
Howarth E S - - 2002
INTRODUCTION: Aneuploidy remains a common cause of fetal loss after the first trimester. Conventional karyotyping from fetal solid tissues post-delivery unfortunately has a poor success rate particularly where the fetus is macerated. To overcome this we obtained amniocentesis and/or chorionic villus samples from mid-trimester intrauterine fetal deaths (IUFDs) prior to ...
Watanabe Hideki - - 2002
OBJECTIVE: The aim of this study was to determine whether fetal trisomy is associated with altered levels of second-trimester maternal pregnancy-associated plasma protein A (PAPP-A) and inhibin A. METHODS: Maternal serum PAPP-A and inhibin A concentrations were measured at 15-17 weeks of gestation in 14 singleton pregnancies with fetal trisomy ...
Senat M V - - 2002
OBJECTIVE: This study was conducted to evaluate pregnancy outcome and mid- and long-term prognosis of cases with nuchal translucency > or =4 mm and normal karyotype. METHODS: Retrospective analysis of 160 cases who presented with a nuchal translucency > or =4 mm when the CRL was between 45 and 84 ...
Luquet I - - 2002
This prospective and multi-centric study confirms the accuracy and the limitations of interphase FISH and shows that any cytogenetics laboratory can perform this technique. With regard to the technical approach, we think that slides must be examined by two investigators, because the scoring may be subjective. The main problem with ...
Nicolaides Kypros H - - 2002
Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of fluid behind the fetal neck. The measurement of fetal NT thickness at the 11-14-week scan has been combined with maternal age to provide an effective method of screening for trisomy 21; for an invasive testing rate of 5%, ...
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