OBJECTIVE: To describe the detection rate of first-trimester chromosomal abnormality screening with nuchal translucency (NT) measurement and maternal age in our population. METHODS: We have screened the fetuses between 11 to 14 weeks' gestation according to the Fetal Medicine Foundation's (London) instructions and used the FMF's software to assess the ...

OBJECTIVE: The clinical application of first-trimester aneuploidy screening remains controversial in the United States. The aim of our study was to evaluate the performance of maternal age, fetal nuchal translucency measurements, pregnancy-associated plasma protein A, and free beta-human chorionic gonadotrophin used in aneuploidy screening in a single institution outside of ...

OBJECTIVE: To examine the efficacy of first trimester screening for trisomy 21 using a combination of maternal age, fetal nuchal translucency (NT), maternal serum free beta-human chorionic gonadotropin (free beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) in a regional setting [maternity unit of the Women's University Hospital, Hannover Medical School ...

OBJECTIVE: Women who are carrying a trisomy 13 fetus are more prone to develop preeclampsia. Excess circulating soluble fms-like tyrosine kinase-1 has been implicated recently in the pathogenesis of preeclampsia. Since the fms-like tyrosine kinase-1/soluble fms-like tyrosine kinase-1 gene is located on chromosome 13q12, we hypothesized that the extra copy ...

OBJECTIVE: Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy. METHODS: A 38-year-old woman attended our ultrasound (US) clinic at 11.2 weeks gestation. She has had two previous stillbirths affected by lethal multiple pterygium syndrome. Transabdominal and transvaginal US were performed and identified a recurrence. Autopsy findings ...

The aim of the study was to develop an early ultrasound diagnostic schema for the determination of increased risk for fetal chromosomal aneuploidies. The study was conducted on a population of 1318 pregnant women divided into 2 groups: 1255 women with the normal course of pregnancy and 63 women with ...

BACKGROUND: Prenatal diagnosis of trisomy 21 is based on fetal karyotyping generally obtained using invasive methods. During pregnancy, the circulating fetal cells in maternal blood constitute a potential source for development of a noninvasive prenatal diagnosis. The objective of this study was the identification and quantification of all fetal nucleated ...

Chromosomal mosaicism in prenatal diagnosis is an important problem to be solved immediately and the probable phenotypic reflections should be explained to the family. We report two numerical and two structural mosaicisms detected in amniocyte cultures. The first fetus had a 47,XY,+mar[10]/46,XY[10] karyotype. The marker chromosome was shown to be ...

OBJECTIVE: This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood. METHODS: Maternal peripheral venous blood samples were collected in sterile tubes containing heparin. After triple ...

The cause of aneuploidy in fetuses of young women is not fully understood. As such women are considered to be at risk of repeating the "error", it is customary to recommend chromosomal evaluation (karyotyping) in subsequent pregnancies. Individuals predisposed to meiotic nondisjunction exhibit aneuploidy in their mitotic cells (mosaicism). The ...

OBJECTIVE: To evaluate the effectiveness of the addition of first-trimester biochemistry to fetal nuchal translucency (NT) measurement in the Combined Test when screening for trisomy 21 in twin pregnancies. METHODS: Maternal serum free beta-hCG and PAPP-A were determined at 8 to 12 weeks and fetal NT was measured at 11 ...

Nuchal translucency (NT) describes an echo-free area, below the skin, in the posterior nuchal and back region of the fetus and is typically observed in the first and early second trimester of pregnancy. A wide NT has been correlated with chromosomal and congenital abnormalities in the fetus. An accurate NT ...

OBJECTIVE: To determine the pattern of early growth disturbance in chromosomally abnormal fetuses by comparing the volume of the fetal head to that of the trunk. METHODS: The fetal trunk and head volume was measured using three-dimensional (3D) ultrasound in 145 chromosomally abnormal fetuses at a median gestational age of ...

BACKGROUND: The mechanisms of the increase in the percentage of alpha-fetoproteins (AFPs) that strongly binds to Lens culinaris agglutinin (AFP-L3) in pregnancies with a trisomy 21 fetus have not been analyzed. To investigate the oligosaccharide variants of AFP produced by normal fetuses and fetuses with trisomy 21, the lectin reactivity ...

Prevalence of congenital heart disease increases with nuchal translucency (NT) thickness. First-trimester fetal bradycardia may result from heart block associated with complex congenital heart disease. We report two cases detected in the first trimester of pregnancy, in which both fetuses showed an increased nuchal translucency and bradycardia. Fetal karyotype was ...

We present the case of a pregnant woman with low free beta-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip ...

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 11-13(+6) weeks of gestation is associated with a detection rate of 90%, for a false-positive rate of 5%. Recent evidence suggests that ...

Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43,273 prenatal diagnoses over a period of 11 years, 1993-2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable ...

OBJECTIVE: To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. DESIGN: Retrospective collection and review of data. SETTING: The four London Regional Genetics Centres. POPULATION: Pregnant women (32,674) in the ...

OBJECTIVE: To evaluate the influence of maternal insulin dependent diabetes mellitus (IDDM) on maternal serum free beta-hCG, PAPP-A and fetal nuchal translucency (NT), thickness at 11 to 13(+6) weeks of gestation in a large cohort of women screened prospectively for chromosomal anomalies. METHODS: Information on maternal IDDM status, maternal serum ...

PURPOSE: To assess the intraoperator repeatability and interoperator reproducibility of central corneal thickness measurements by the Pentacam Scheimpflug imaging system (Oculus) and the optical low-coherence reflectometer (OLCR) pachymeter (Haag-Streit) and to compare them with those of ultrasound (US) pachymetry. SETTING: Assaf Harofe Medical Center Ophthalmology Outpatient Clinic, Zerifin, Israel. METHODS: ...

OBJECTIVE: The purpose of this study was to identify the influence of gestational age on the detection of sonographic markers of aneuploidy. STUDY DESIGN: Using a retrospective chart review, cases of trisomy 13, 18, and 21 with fetal ultrasounds between 14 1/7 and 36 4/7 weeks' gestation were identified. Sonographic ...

OBJECTIVE: The purpose of this study was to determine the effectiveness of a fetal anatomy survey in conjunction with first-trimester nuchal translucency (NT) screening ultrasound in an unselected pregnant population performed by sonographers. STUDY DESIGN: This was a prospective observational study of women presenting for NT screening for chromosomal defects. ...

OBJECTIVE(S): To estimate weight and ethnic group correction factors for first-trimester screening markers. METHODS: Ethnic-specific median MoM free beta hCG and pregnancy associated plasma protein A (PAPP-A) and delta nuchal translucency values were calculated for cohorts of maternal weight (20 lb each) using data from 51,206 patients undergoing first-trimester screening. ...

There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Randomized studies have established that the risk of miscarriage from chorionic villus sampling in the first trimester is the same as for amniocentesis in the second trimester. Prospective studies have ...

OBJECTIVE: The purpose of this study was to investigate associations between risk of spontaneous fetal loss and risk estimates for Down syndrome, trisomy 18, and neural tube defects assigned by second-trimester maternal serum screening. STUDY DESIGN: The study involved 264,653 women with available pregnancy outcomes who were screened between 15 ...

OBJECTIVE: Women with chromosomally abnormal fetuses often choose to continue their pregnancy. However, though they may search for specific details whether their fetus will survive, not much information is available. We sought to determine if there was a pattern for timing of demise and to determine if demise was more ...

OBJECTIVE: To analyze the effect of nuchal cords on perinatal features at delivery of term and postterm pregnancies. METHODS: A total of 11,748 women with planned vaginal deliveries, including 9,574 term and 2,174 postterm deliveries, were analyzed for intrapartum events, clinical peripartum management, mode of delivery, and neonatal outcome. The ...

OBJECTIVE: To determine the potential value of measuring the placental volume at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS: The placental volume was measured using three-dimensional ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling for fetal karyotyping at 11 to ...

OBJECTIVES: To evaluate the clinical relevance of nuchal cord in normal, vertex, singleton pregnancies at term, and its effect on mode of delivery and perinatal outcome. STUDY DESIGN: Prospective study with 352 normal, singleton pregnancies, with fetuses in the vertex presentation, examined with real-time ultrasound at 37-39 weeks. Health care ...

OBJECTIVE: To determine the potential value of measuring the gestational sac volume (GSV) at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS: The GSV was measured using three-dimensional (3D) ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling (CVS) for fetal karyotyping ...

OBJECTIVE: This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). STUDY DESIGN: OSCAR was ...

OBJECTIVE: To determine whether in screening for trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in monochorionic twin pregnancies it is preferable to use the higher, smaller or average NT. METHODS: We retrospectively examined 769 monochorionic twin pregnancies that had undergone NT screening. The selection criteria were that ...

OBJECTIVES: The detection of fetal lateral neck cysts (FLNC) may create anxiety and confusion among pregnant woman and their physicians. We attempted to determine the incidence and significance of FLNC. Also, we tried to define the importance of the associated findings: the laterality of the finding, triple test results, maternal ...

OBJECTIVE: Assessing the role of fetal ductus venosus and nasal bones evaluation in first-trimester screening for Down syndrome. METHODS: This was a prospective cohort study in a tertiary referral fetal medicine unit involving 628 consecutive fetuses undergoing chorionic villus sampling. The indication for chorionic villus sampling was an increased risk ...

OBJECTIVE: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses. STUDY DESIGN: First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective ...

OBJECTIVES: To present the prenatal diagnosis and molecular cytogenetic analysis of de novo proximal interstitial deletion of 9q and to review the literature of uncommon aneuploidies associated with increased nuchal translucency (NT). CASE: Obstetric ultrasound at 11 weeks' gestation revealed an increased NT thickness of 6.6 mm in a 31-year-old ...

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the ...

OBJECTIVE: To examine the levels of free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in second-trimester maternal serum from pregnancies affected by trisomy 13 and compare these with the known reduced levels of these markers in first-trimester cases in an attempt to better understand the pathophysiology of ...

Increased nuchal translucency thickness (NT) is an established sonographic marker of fetal chromosomal abnormality. Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. We report the first case of fetal Ellis-Van Creveld syndrome presenting as raised fetal NT ...

Aicardi syndrome (AS) is characterized by a triad of callosal agenesis, infantile spasms and chorioretinal 'lacunae'. It occurs only in individuals with two X chromosomes and is not familial. The outcome of AS is severe, with a high early mortality, considerable morbidity and a generally poor developmental outcome. However, the ...

A 30-year-old woman, gravida 2, para 1, was referred for nuchal translucency, free beta-human chorionic gonadotropin (beta-hCG), and pregnancy-associated plasma protein A (PAPP-A) screening at 12 weeks gestation. The nuchal translucency was increased to 3.8 mm, resulting in a post-test result of 1:15 risk for Down syndrome by a combination ...

Study of parental/meiotic origin of free trisomy 21 in nuclear families from Russia (70 cases), Ukraine (32 cases), and 22 from Germany revealed maternal nondisjunction in 77.3% (Germany), 93.8% (Ukraine), and 91.4% (Russia), paternal origin in 13.6%, 6.2%, and 8.6%, respectively. Maternal meiosis I errors were found in 84.4% (Ukraine), ...

A surface-enhanced laser desorption/ionization time of flight (SELDI-TOF)-based ProteinChip System was used as a tool for rapid discovery and identification of protein patterns in serum that discriminate between trisomy 21 and unaffected pregnancies. We analyzed 24 serum samples from women carrying a trisomy 21 pregnancy and 32 with an unaffected ...

OBJECTIVES: To evaluate the performance of first-trimester 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). In addition, the potential impact of a new individual risk-orientated two-stage approach to first-trimester screening was ...

OBJECTIVE: To investigate the presence and volume of jugular lymphatic sacs (JLS) in first-trimester fetuses with normal nuchal translucency thickness (NT) and in those with increased NT. METHODS: This was a prospective study of 26 fetuses with NT > 95(th) percentile, which were compared with 137 fetuses with normal NT. ...

OBJECTIVE: To provide data for pregnancies in girls with Turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS ...

Renal pelvis dilatation is a common anomaly detected at the 20-week anomaly scan. The aim of this study was to evaluate the postnatal outcome of fetal pyelectasis in an unselected obstetric population. This was a retrospective study of fetal pyelectasis detected at midtrimester anomaly scan. Fetal pyelectasis was classified as ...

OBJECTIVE: Increased fetal nuchal translucency is associated with increased risk for congenital heart defects. In the present study, we aimed to investigate whether fetal nuchal translucency distribution differs among different types of congenital heart defects and whether it can lead to an earlier diagnosis. STUDY DESIGN: Four fetal echocardiography units ...

We report a case of trisomy 2 mosaicism detected upon amniocentesis in a woman with advanced maternal age. A mos 47,XY,+2(4)/46,XY(21) karyotype was revealed using standard GTG banding. There were no pathological sonographic findings and the fetal size was normal for gestational age at 16th week. The use of serial ...