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Gabrielli S - - 2009
OBJECTIVE: To investigate the clinical implications of two categories of fetal bilateral cleft lip and palate (BCLP): with premaxillary protrusion and with a flattened profile. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of BCLP at the Department of Obstetrics and Gynecology of the University of ...
Saucedo Mónica del Carmen - - 2009
To estimate the sensitivity of nuchal-translucency measurement and compare it with that of second-trimester serum screening using population-based data and to evaluate the effect of nuchal-translucency measurement on the gestational age at prenatal diagnosis of Down syndrome and pregnancy termination. We used The Paris Registry of Congenital Malformation data on ...
Gray Diana L - - 2009
OBJECTIVE: The purpose of this study was to analyze humeral length (HL) in a normal population and to compare that with HL in a population of fetuses with trisomy 21 to determine the most efficient discriminating parameters for diagnostic accuracy. METHODS: A nested case-control study comparing HLs from a normal ...
Chen Chih-Ping - - 2009
Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 in the second and third trimesters, including holoprosencephaly, brachycephaly, microcephaly, Dandy-Walker complex and posterior fossa abnormalities, ventriculomegaly, neural tube defects, ...
Chen Chih-Ping - - 2009
Prenatal ultrasound is a powerful tool for detecting structural abnormalities in fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13, including the major structural abnormalities observed during the first trimester (omphalocele, holoprosencephaly, megacystis and congenital heart defects), the frequencies of ...
Clur S A - - 2009
In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease ...
Pastorino Daniela - - 2009
We offered a modified stepwise sequential integrated screening for Down syndrome to 72 singleton and 16 twin pregnancies obtained with assisted reproductive techniques, observing no cases of trisomy 21 and obtaining a false positive rate of 10% in singleton and 7% in twin pregnancies. In our population, this approach for ...
Sahota D S - - 2009
OBJECTIVES: To determine reference ranges of fetal nasal bone length (NBL) in a Chinese population and to assess the value of NBL measurement in screening for chromosomal defects in the first trimester. METHODS: In this prospective study the fetal profile was examined and the fetal NBL and crown-rump length (CRL) ...
Kagan K O - - 2009
OBJECTIVE: To examine the performance of the new algorithm in screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: This was a prospective screening study for trisomy 21 in singleton pregnancies ...
Tørring Niels - - 2009
BACKGROUND: Screening for fetal chromosome abnormalities in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free beta human choriogonadotropin (free beta hCG). The blood sample is traditionally taken around week 12 of gestation, but the performance of earlier blood sampling is not well ...
Cowans Nicholas J - - 2009
OBJECTIVE: To investigate if fetal sex has an impact on 1st trimester combined screening for aenuploidy. METHODS: We studied the first trimester PAPP-A, free beta-human chorionic gonadatropin (beta-hCG) and nuchal translucency levels in 56,024 normal, singleton pregnancies with known fetal sex at birth. We also examined the distributions in 722 ...
Kagan K O - - 2009
OBJECTIVES: To examine the effect of deviations in median nuchal translucency thickness (NT) and the spread in measurements on the performance of screening for trisomy 21 by maternal age and fetal NT, and by maternal age, fetal NT and maternal serum biochemistry. METHODS: We simulated the NT and multiples of ...
Sheizaf Boaz - - 2009
OBJECTIVE: Evaluating the correlation between the nuchal translucency (NT) measurement throughout its range of values independent of gestational age, and adverse pregnancy outcome: in euploid structurally normal fetuses. METHODS: A prospective observational study was conducted in which NT measurements were made in consecutive singleton euploid fetuses derived from an unselected ...
Niklasson Bo - - 2009
BACKGROUND: The Ljungan virus (LV) has been shown to cause central nervous system malformations in laboratory mouse models. The LV has also been associated with intrauterine fetal death in humans. We investigated the presence of LV in a series of human hydrocephaly and anencephaly cases from elective abortions. METHODS: A ...
Maiz N - - 2009
OBJECTIVES: To investigate the performance of first-trimester screening for aneuploidies by including assessment of ductus venosus flow in the combined test of maternal age, fetal nuchal translucency thickness, fetal heart rate, and serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. METHODS: Screening by the combined test was performed in ...
O'Brien K - - 2009
We report a case of ovarian hyperstimulation syndrome associated with fetal trisomy 21. A primigravida presented at 17 1/7 weeks of gestation with abdominal pain because of enlarged ovaries. Multiple fetal abnormalities were seen on pregnancy ultrasound. Fetal trisomy 21 was diagnosed by amniocentesis. The patient's human chorionic gonadotropin level ...
Herraiz I - - 2009
OBJECTIVES: Low maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) are associated with both increased risk of aneuploidies and impaired trophoblastic invasion, while high uterine artery (UtA) resistance is associated with impaired trophoblastic invasion but not with an increased risk of aneuploidies. The aim of this study was to determine ...
Zaragoza E - - 2009
OBJECTIVES: To investigate the potential value of maternal serum placental growth factor (PlGF) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities. METHODS: The maternal serum concentration of PlGF at 11 + 0 to 13 + 6 weeks was measured in 609 euploid and 175 chromosomally abnormal pregnancies, ...
Accardi Manuela Chiara - - 2009
Ultrasound examination of the foetal cranium can diagnose fetal cranial defects and abnormal skull shape and it's aim is to detect in prenatal age most various abnormalities of the skull, brain and foetal face. The changes of each of these components frequently determine the growth of the other two.The abnormalities ...
Poon Leona C Y - - 2009
OBJECTIVE: The objective of this study was to investigate the potential value of ADAM12 (A disintegrin and metalloprotease) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities. STUDY DESIGN: The concentration of ADAM12 was measured at 11-13 weeks in cases of trisomy 21 (n = 49), trisomy 18 ...
Kagan K O - - 2009
OBJECTIVE: To investigate the performance of first-trimester screening for aneuploidies by including assessment of the fetal nasal bone in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Screening by the ...
Cho Richard C - - 2009
OBJECTIVE: To describe ultrasound findings in fetuses with Trisomy 18. METHODS: Prospective population-based cohort study of second trimester ultrasound among Californian women who were at increased risk of chromosome abnormality based on serum screening between November 1999 and April 2001. Structural anomalies plus the following soft markers were assessed: nuchal ...
Sepulveda W - - 2009
OBJECTIVE: To review our experience with first-trimester screening of chromosomal abnormalities in multiple pregnancies using nuchal translucency (NT) thickness measurement and nasal bone assessment. METHODS: Cases of multiple pregnancy presenting for first-trimester ultrasound evaluation and with viable fetuses measuring between 45 and 84 mm were recruited for this study. Crown-rump ...
Axt-Fliedner R - - 2009
PURPOSE: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency with respect to fetal loss, structural defects genetic syndromes, and neurological outcome. MATERIALS AND METHODS: Retrospective analysis and telephone interview. All included pregnancies underwent a mid-trimester anomaly scan. RESULTS: 279 pregnancies were included. The overall ...
Dane B - - 2009
OBJECTIVE: The term arthrogryposis multiplex congenita (AMC) refers to multiple joint contractures present at birth. AMC is not a specific disorder but is the consequence of neurological, muscular, connective tissue, and skeletal abnormalities or intrauterine crowding, which may lead to limitation of fetal joint mobility and the development of contractures. ...
Kagan K O - - 2009
OBJECTIVE: To investigate the performance of first-trimester screening for aneuploidies by including assessment of tricuspid blood flow in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A). METHOD: Screening by the ...
Staboulidou Ismini - - 2009
OBJECTIVE: We examined the potential value of the uterine artery pulsatility index (PI) in pregnancies with fetal aneuploidies and in those that developed preeclampsia (PE) with the aim of distinguishing between these complications in pregnancies with low pregnancy-associated plasma protein-A (PAPP-A). METHODS: Uterine artery PI and serum PAPP-A at 11-13 ...
Franz Maximilian B - - 2009
Serum concentrations of the amino-terminal pro-B-type natriuretic peptide (NT-proBNP) may be used to monitor cardiac function during pregnancy but normal values are not established for this purpose. Therefore, we investigated NT-proBNP in normotensive healthy pregnancies compared to a non-pregnant control group. Serum NT-proBNP was measured in 94 normotensive, healthy pregnant ...
Lo Magno Elena - - 2009
A case of fetal neck lymphangioma is reported A 34-year-old primigravida presented with a fetus at 21+5 weeks' gestation with a neckl cystic mass. Diagnosis of neck lymphangioma was made; the couple opted for termination of pregnancy a 22 weeks; they refused fetal autopsy. Counseling in case of neck lynphangioma ...
Merz E - - 2008
PURPOSE: First-trimester screening at 11 - 14 weeks has been proven to be very useful in the early detection of chromosomal defects. The aim of this project was to develop a CE-certified new risk calculation program (PRC = Prenatal Risk Calculation) using a nationwide database. MATERIALS AND METHODS: The database ...
Kagan Karl O - - 2008
OBJECTIVES: To examine the effectiveness in screening for triploidy at 11 weeks to 13 weeks and 6 days of gestation by the combined use of the risk algorithms for trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum ...
Fink Miriam - - 2009
We sought to determine whether nuchal translucency (NT) thickness of >or= 2 mm poses a risk for adverse perinatal outcome. A prospective observational study was conducted including all singleton pregnancies undergoing NT screening between 11 and 13.6 weeks' gestation, from January 1999 to October 2006, in a University Medical Center. ...
Bronshtein Moshe - - 2008
OBJECTIVE: To determine the value of a first trimester fetal ultrasound examination in cases of an increased nuchal translucency (NT). METHOD: A detailed fetal ultrasound examination was performed within 4 days of a detection of a first trimester increased NT. RESULTS: As many as 23 fetuses were evaluated. Severe anomalies ...
Persico N - - 2008
OBJECTIVE: To construct a reference range for fetal prenasal thickness between 16 and 24 weeks of gestation and to evaluate the thickness in fetuses with trisomy 21. METHODS: We acquired three-dimensional (3D) volumes of the fetal profile from 135 normal fetuses and 26 fetuses with trisomy 21 at 16-24 weeks' ...
Zidere V - - 2008
Pentalogy of Cantrell is the association of five features: a midline anterior ventral wall defect, a diaphragmatic defect, a cleft distal sternum, a defect of the apical pericardium with communication into the peritoneum, and an intracardiac defect. This is a complex abnormality that requires multiple surgical procedures, but which can ...
Engels Hartmut - - 2008
Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a ...
Schwendemann Wade D - - 2009
We sought to identify the characteristic sonographic findings of fetal trisomy 22 by performing a retrospective review of nine cases of fetal trisomy 22. All cases of chromosomal mosaicism were excluded, as were first-trimester losses. Indications for sonography, gestational age, and sonographically detected fetal anomalies were analyzed. The majority of ...
Cullen Louise E - - 2008
We examined relationships between stable isotopes of carbon (delta(13)C) and oxygen (delta(18)O) in tree rings of Callitris columellaris F. Muell in the semi-arid Pilbara region of north-western Australia. To test the hypothesis that stomatal control of photosynthesis decreases during drier periods, we developed delta(13)C and delta(18)O chronologies spanning 1919-1999, and ...
Chen Chih-Ping - - 2008
Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified ...
Verwoerd-Dikkeboom Christine M - - 2008
OBJECTIVE: To demonstrate the use of a novel three-dimensional (3D) virtual reality (VR) system in the visualization of first trimester growth and development in a case of confined placental trisomy 16 mosaicism (CPM+16). DESIGN: Case report. SETTING: Prospective study on first trimester growth using a 3D VR system. PATIENT(S): A ...
Kim Hyungseop - - 2008
BACKGROUND: Patients with heart failure with a preserved ejection fraction (HFPEF) have high N-terminal pro-B-type natriuretic peptide (NT-pro-BNP) level and a high ratio of early transmitral inflow to diastolic velocity of the mitral annulus (E/E') derived from tissue Doppler imaging (TDI). Because left atrial volume indexed to body surface area ...
Czeizel Andrew E - - 2008
The first trimester has been evaluated at different exposures as the critical period of congenital abnormalities. However, the first trimester concept has no scientific basis because environmental agents (teratogens) cannot induce congenital abnormalities during the first gestational month calculated from the first day of the last menstrual period. In addition, ...
Kagan K O - - 2008
OBJECTIVES: To derive a model and examine the performance of first-trimester screening for trisomy 18 by maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Prospective combined screening for trisomy 21 was performed at 11 + 0 to ...
Odibo Anthony O - - 2008
OBJECTIVE: The purpose of this study was to compare the efficiency of second-trimester nasal bone hypoplasia (NB) and increased nuchal fold (NF) in Down syndrome screening. STUDY DESIGN: This was a prospective multicenter cohort study of women who underwent an anatomic survey between 16 and 22 weeks of gestation. The ...
Müngen Ercüment - - 2008
Placental mesenchymal dysplasia (PMD) is a rare placental abnormality with sonographic and macroscopic features similar to those seen in a partial hydatidiform mole, and which has usually been reported with a normal female karyotype. We report a case of prenatally suspected PMD associated with trisomy 13. Sonography performed at 17 ...
Maiz Nerea - - 2008
OBJECTIVE: To estimate the independent contribution of abnormal flow in the ductus venosus at 11 to 13+6 weeks of gestation in the prediction of major fetal abnormalities and fetal death. METHODS: This was a prospective assessment of singleton pregnancies by maternal history, serum free beta-hCG, pregnancy-associated plasma protein A (PAPP-A), ...
Dahoun Sophie - - 2008
We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at 13(5/7) weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non-mosaic trisomy 21 in T1 (47,XX,+21[7]), and low-grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem ...
Wang Yan - - 2008
BACKGROUND: Nuchal cords are rarely associated with significant neonatal morbidity or mortality. CASE: A primigravida with a normal term pregnancy presented for diminished fetal movement. Several nuchal cord loops were found on the ultrasound imaging, with normal Doppler findings. Abnormal fetal heart rate pattern appeared after 6 hours of labor. ...
Borenstein M - - 2008
OBJECTIVE: Trisomy 21 is associated with a flat face, which can now be quantified by measurement of the frontomaxillary facial (FMF) angle. The aim of this study was to examine whether in trisomy 21 fetuses fetal nuchal translucency (NT) thickness and maternal serum free ss-human chorionic gonadotropin (ss-hCG) and pregnancy-associated ...
Bedeschi Maria Francesca - - 2008
OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. Here we report on a familial chromosome duplication spanning about 800 Kb of Xq12q13.1, associated with MR and a distinctive phenotype in the affected male, ...
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