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Dursun P - - 2004
Nuchal cord (NC) is defined as the umbilical cord being wrapped 360 degrees around the fetal neck. It is one of the most common complications of the umbilical cord and any pregnancy might be complicated with a nuchal cord. If a nuchal cord occurs in a pregnant woman with decreased ...
Fong Katherine W - - 2004
Ultrasonography (US) is performed during early pregnancy for dating, determination of the number of fetuses, assessment of early complications, and increasingly for evaluation of the fetus, including measurement of the thickness of the nuchal translucency (NT). Measurement of NT thickness between 11 and 14 weeks gestation, combined with maternal age ...
Liou Jui-Der - - 2004
Trisomy 21 is the most common chromosomal aberration in live births. In this study we employed human chromosome 21-specific short tandem repeat (STR) DNA markers to determine the numbers of chromosome 21 present in fetal cells. Forty amniotic fluid samples from pregnancies complicated with fetal Down syndrome and 98 samples ...
Chen Chih-Ping - - 2004
OBJECTIVES: To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 16. CASE: A 30-year-old gravida 2, para 1 woman was referred for amniocentesis because of a positive maternal serum screen result with elevated maternal serum alpha-fetoprotein (MSAFP) and maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG). Cytogenetic ...
González-Quintero Victor Hugo - - 2004
OBJECTIVE: To evaluate the outcomes of pregnancies with sonographically detected nuchal cords remote from delivery during the second and third trimesters of gestation. METHODS: A retrospective study of patients with and without nuchal cords detected by sonography during the second and third trimesters of gestation (17-36 weeks) was conducted. Variables ...
Chen Chih-Ping - - 2004
OBJECTIVES: To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4. CASE: An amniocentesis was performed at 21 weeks' gestation because of maternal anxiety. Cytogenetic analysis revealed mosaicism for trisomy 4, 47,XX,+4[4]/46,XX[16]. Level II ultrasound demonstrated tetralogy of Fallot. Repeated amniocentesis at 23 weeks' gestation revealed ...
Drummond C L - - 2003
OBJECTIVE: To analyze the indications and the results of invasive testing for fetal karyotyping for ultrasound abnormality in the third trimester of pregnancy, when first- and second-trimester screening tests were negative. METHODS: Retrospective study of 171 consecutive pregnancies that underwent invasive testing after 28 weeks of gestation in 2 institutions ...
Hafner E - - 2003
OBJECTIVE: Increased first-trimester nuchal translucency (NT) is a possible marker for congenital heart defects in euploid fetuses. In this study, we wanted to determine the sensitivity for congenital heart defects using the 95th centile of the NT as a cut-off point. METHODS: All women who booked for delivery in our ...
Tul Natasa - - 2003
OBJECTIVE: To find whether fbetahCG, PAPP-A and inhibin-A levels in maternal serum or fetal nuchal translucency (NT) thickness at the first-trimester screening for trisomy 21 (T21) might detect women at high risk for adverse pregnancy outcomes. METHODS: A retrospective analysis of 1136 women with singleton pregnancy between 10 and 14 ...
Hung Jeng-Hsiu - - 2003
The aim of this study was to achieve one-stage screening for trisomy 21 using a combination of nuchal translucency (NuT) measurement and maternal serum alpha-fetoprotein (AFP) and free beta-human chorionic gonadotrophin (hCG) biochemistry levels in the second trimester among a high-risk study population. From January 1998 to June 2001, 45 ...
Borrell Antoni - - 2003
OBJECTIVE: To assess the potential value of ductus venosus Doppler studies in the detection of fetal aneuploidy on measurement of nuchal translucency. METHODS: The pulsatility index for veins (PIV) and the lowest velocity during atrial contraction (A-wave) were determined in the fetal ductus venosus in 3382 consecutive pregnancies at 10 ...
Rosati Paolo - - 2003
OBJECTIVE: To assess whether simple biometric parameters such as orbital diameters measured in early pregnancy by transvaginal sonography can be used as screening tools for aneuploid fetuses. METHODS: The study group consisted of 2771 fetuses of pregnant women referred to our center for genetic amniocentesis and examined by transvaginal sonography ...
Sasaki Yoshihito - - 2003
A 36-year-old multiparous woman was referred at 25 weeks of gestation with suspected cystic hygroma. Ultrasonographic examination demonstrated large multiple cysts around the fetal neck. We treated them by injection of OK-432 at 29 and 32 weeks of gestation. The cysts decreased in size after the intrauterine treatment. A female ...
Sepulveda Waldo - - 2003
OBJECTIVE: To describe cases of trisomy 22 detected prenatally on second-trimester sonography and to review the literature on similar cases, with special emphasis on the prenatal findings and pregnancy outcome. METHODS: We performed follow-up second-trimester sonography and fetal karyotyping on 3 pregnant women who were referred because of abnormal findings ...
Sacchini C - - 2003
OBJECTIVE: To determine the value of measuring fetal ear length at 11-14 weeks of gestation in screening for chromosomal defects. METHODS: The fetal ear length was measured in 450 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. RESULTS: The median gestational age was 12 (range, ...
Wapner Ronald - - 2003
BACKGROUND: Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 percent. First-trimester markers of aneuploidy have been developed, but their use in combination has not been adequately evaluated in clinical practice. METHODS: ...
Cavani S - - 2003
Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and ...
Parker M J - - 2003
OBJECTIVES: To establish precise incidence figures for trisomy 13 and trisomy 18 in the former Trent region, to identify current prenatal diagnostic practice, and to assess the potential impact of the introduction of recently devised prenatal diagnostic practices. METHODS: An audit of all cases of trisomy 13 and trisomy 18 ...
Ondero─člu Lütfü - - 2003
A 23 year-old nulliparous woman was admitted to the obstetrics clinic in the 12th week of her pregnancy. Following the first trimester scanning, the fetus was diagnosed as having a large omphalocele and ectopia cordis. It was thought to be a thoracoabdominal wall defect and a possible case of Cantrell's ...
Gessner Bradford D - - 2003
BACKGROUND: Few studies have evaluated the reasons why lethal chromosomal anomalies continue to occur despite the importance of this question for maximizing perinatal care. AIMS: To determine why trisomy 13 or 18 births continue to occur in Alaska. STUDY DESIGN: Case series involving review of maternal and infant medical records. ...
Chasen S T - - 2003
OBJECTIVE: To examine the detection rate of chromosomal abnormalities using a combination of nuchal translucency (NT) and maternal age in a United States population. METHODS: A total of 2131 pregnancies with 2339 fetuses underwent NT screening from April 2000 to April 2002 in our ultrasound unit. Nuchal translucency was measured ...
Spencer K - - 2003
OBJECTIVE: To assess whether in screening for trisomy 21 by nuchal translucency (NT) the delta or the multiples of the median (MoM) approach is the most appropriate method for calculating accurate individual patient-specific risks. METHODS: Data on fetal NT and crown-rump length from 128,030 unaffected and 428 trisomy 21 pregnancies, ...
Orlandi F - - 2003
OBJECTIVES: To assess the feasibility of measuring nasal bone length in first-trimester pregnancy and to confirm if the absence of a fetal nasal bone is a marker for Down syndrome. METHODS: Fetal nasal bone assessment was attempted in 1089 consecutive singleton pregnancies between 11 and 14 weeks' gestation. All ultrasound ...
Roberts Eileen - - 2003
OBJECTIVES: To add to the knowledge base concerning confined placental mosaicism for trisomy 2. METHODS: Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result. RESULTS: All cells ...
Chen Chih-Ping - - 2003
OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of a case with concomitant trisomy 16q and 22q13.3 deletion of paternal origin. CASE AND METHODS: A 24-year-old pregnant woman was referred at 30 weeks' gestation for suspected fetal abnormalities. Sonographic examination revealed decreased fetal movement, dolicocephaly, an asymmetric skull, ...
Zoppi Maria Angelica - - 2003
OBJECTIVES: The absence of nasal bone (NB) has been noted in trisomy 21 fetuses at first-trimester ultrasound, in high-risk pregnancies. In this study, the nasal bone was evaluated in relation to fetal karyotype, in unselected pregnancies. METHODS: From September 2001 to September 2002, the fetal facial profile was examined at ...
Yeo Lami - - 2003
OBJECTIVE: To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine the sensitivity of sonographically detecting fetuses with trisomy 18. METHODS: All genetic and cytogenetic records of fetuses with trisomy 18 were reviewed retrospectively (1992-2002). From these, singleton fetuses who had prenatal sonography at ...
Centini G - - 2003
A 19-year-old primipara was referred to our center for a routine scan at 33 + 4 weeks' gestation. A visible but small stomach bubble (18 mm) was detected in the fetal abdomen, associated with a dilation of the esophagus with a tapering distal part. Direct visualization of filling and emptying ...
Sikovanyecz J - - 2003
OBJECTIVE: To investigate the relationship between nuchal translucency (NT) and fetomaternal transfusion (FMT) after chorionic villus sampling (CVS). METHODS: The level of FMT was determined in 272 viable, singleton pregnancies in which 10-14-week ultrasound scanning, NT measurement and CVS for fetal karyotyping had been performed. The pre-CVS NT was measured ...
Hashimoto Kazumasa - - 2003
OBJECTIVE: To investigate the incidence of embryonic/fetal pleural effusion in the first trimester and its pregnancy outcome. METHODS: A total of 965 viable singleton pregnancies confirmed by sonography between 7 and 10 weeks were examined to estimate the incidence of embryonic/fetal pleural effusion. When initial transvaginal sonography showed pleural effusion, ...
Martínez Crespo J M - - 2003
We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low-risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding ...
Logghe H - - 2003
Nuchal translucency (NT) measurements were compared between 13 centres participating in a multi-marker Down syndrome screening program. Results from 4765 women were analysed, and there were highly statistically significant between-centre differences after allowing for gestation (P < 0.0001). Examination of maternal serum marker levels, expressed in multiples of the median ...
Yang Young Ho - - 2003
This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples were collected from 30 women with an advanced maternal age, abnormal triple marker test results, or abnormal ultrasound findings such ...
Massez Anne - - 2003
The aim of this study was to evaluate the efficiency of the fetal iliac wing angle measurements in the detection of trisomy 21 during the second trimester and the impact of the fetal position on this measurement. During a 43-month period, the iliac wing angle was prospectively measured in 695 ...
Anderson N - - 2003
OBJECTIVE: To determine whether an isolated echogenic intracardiac focus in the fetal heart in the mid-trimester (16-24 weeks) in women aged 18-34 years of age is associated with trisomy 21. METHOD: This was a prospective population-based observational study. A search of all obstetric sonograms performed in our region from January ...
Rizk Diaa E E - - 2003
BACKGROUND: Conception without ovum donation is very rare in patients with Turner syndrome, occurring mainly in mosaics, and only a third of these natural pregnancies are associated with normal outcome. CASE REPORT: A spontaneous pregnancy is described in a Turner mosaic (45,X/46,XX) with normal puberty and nine previous first-trimester miscarriages ...
Cicero Simona - - 2003
BACKGROUND: Screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A) at 11 to 14 weeks of gestation is associated with a detection rate of 90% for a false-positive rate of 5%. Recent evidence suggests ...
Smrcek J M - - 2003
OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform ...
Mitchell Reginald H - - 2003
The syntheses of several new simple negative, a simple positive, and multiple negative photochromes containing the dihydropyrene-cyclophanediene photochromic system are described. The photo-openings of the negative photochromes, the [e]-annelated benzo (7), naphtho (9), anthro (11), furano (19), and triphenyleno (15) derivatives of the parent 2,7-di-tert-butyl-trans-10b,10c-dimethyl-dihydropyrene (5), as well as its ...
Cheng Po-Jen - - 2003
BACKGROUND: Trisomy 18, the second most common autosomal trisomy, has the highest incidence of congenital heart disease of all chromosomal abnormalities. This study assessed the use of nuchal translucency (NT) measurement and fetal echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. METHODS: Screening for ...
Favre R - - 2003
OBJECTIVE: To determine whether, in a selected high-risk population, Doppler velocimetry of the ductus venosus can improve the predictive capacity of increased nuchal translucency in the detection of major congenital heart defects in chromosomally normal fetuses at 11-14 weeks of gestation. METHODS: Ductus venosus Doppler ultrasound blood velocity waveforms were ...
Haak Monique C - - 2003
First-trimester nuchal translucency (NT) measurement is a widely used technique to determine the risk of fetal aneuploidy. The aim of this review was to explore the different hypotheses on the aetiology of increased NT. Using a computerized database (PubMed), articles on the aetiology of first-trimester NT were retrieved. Furthermore, the ...
Yong P J - - 2003
INTRODUCTION: Analysis of data from cases of trisomy mosaicism can provide insight for genetic counselling after prenatal diagnosis and for the elucidation of the pathogenesis of trisomy during pregnancy. METHODS: Statistical analysis was carried out on data from 162 cases of pregnancies with prenatal diagnosis of trisomy 16 mosaicism. RESULTS: ...
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 ...
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