OBJECTIVE: The aim of this study was to examine fetal and neonatal outcomes in the setting of nuchal translucency (NT) > or =3 mm at routine first-trimester screening. STUDY DESIGN: A nested case-series study within a retrospective cohort of women screened for Down syndrome at 11-14 weeks of gestation. Crown-rump ...

OBJECTIVE: To determine the extent to which the fetal anatomy detailed in The Fetal Medicine Foundation Nuchal Translucency software program can be visualized using the stored dataset of a single transabdominal three-dimensional (3D) volume sweep of the entire fetus between 11 and 13 + 6 weeks' gestation. METHODS: Transabdominal 3D ...

OBJECTIVES: The purpose of this study was to investigate the value of first-trimester nuchal translucency (NT) thickness in predicting the pregnancy outcome in monochorionic multiple pregnancies. METHODS: Thirty monochorionic multiple pregnancies were evaluated for NT thickness at a median gestational age of 12 weeks (range, 11-14 weeks). Information on pregnancy ...

BACKGROUND: ADAM12s (a disintegrin and metalloprotease) is a placenta-derived glycoprotein that is involved in growth and differentiation and has been shown to be a potential first-trimester and second-trimester marker of trisomy 21 and other aneuploides. Maternal ADAM12s concentrations show a considerable temporal variation with gestational age and in the initial ...

OBJECTIVE: To assess the potential role of folic acid in early pregnancy loss by measuring homocysteine (hcy) levels in healthy, pregnant women who present with a current first-trimester miscarriage. STUDY DESIGN: This was a cross-sectional analysis comprising 13 patients aged 18-31 years old who had a scheduled dilatation and curettage ...

BACKGROUND: Previously the first trimester, later the 2nd and/or 3rd gestational months were evaluated at the analysis of different exposures in different congenital abnormalities. However, different congenital abnormalities have different critical periods. The objective of this study was to check the feasibility of a new approach to consider the specified ...

Nuchal translucency sonography is the most powerful single prenatal marker for Down syndrome. Its detection rate is 75% at a 5% false-positive rate. The combination of nuchal translucency and maternal serum-free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A can identify 85% to 90% of fetuses with Down syndrome for a ...

OBJECTIVES: The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such ...

OBJECTIVE: To compare the effectiveness of a nuchal scan at 10 to 14 + 6 weeks and a detailed morphology scan at 12 to 14 + 6 weeks in screening for fetal structural abnormalities. METHODS: From March 2001 to November 2004, 8811 pregnant women were randomized into either the control ...

To determine whether an elevated basal FSH concentration is an independent predictor of fetal aneuploidy, as measured in spontaneous abortions (SAB). Retrospective study. Academic reproductive endocrinology and infertility center. All women with karyotypes of chorionic villi isolated from first trimester spontaneous miscarriages at the time of dilation and curettage from ...

OBJECTIVE: Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 ...

Agnathia is a very rare malformation characterized by the absence of the mandible, which occurs either as an isolated malformation or in association with other deformities. We report the first case of an isolated agnathia diagnosed at 12 weeks due to the absence of the chin; the case was diagnosed ...

The aim of this study was to examine the value of testing for a 22q11 microdeletion in fetuses with nuchal translucency (NT) above the 99th percentile (>3.5 mm). A 22q11 microdeletion results in the development of 22q11 deletion syndrome, a spectrum of disorders also known as DiGeorge/Velocardiofacial syndrome. A total ...

This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/urine from megacystis) over an 11-year period (1996-2006) in a single Genetic Center (University Hospital Gasthuisberg, Leuven), looking at the prenatal diagnosis of trisomy 21. In this study a total of ...

BACKGROUND: Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time-consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance of women with normal results can be performed by molecular analysis of uncultured foetal cells. In the present study, we developed a proteomic fingerprinting approach coupled ...

Information concerning the prognosis of subsequent pregnancies in patients with reciprocal translocations is limited. This study was performed to determine the percentage success rate with first pregnancies after ascertainment of a carrier status. A total of 2,382 couples with a history of two or more consecutive miscarriages were studied in ...

Althoughmaternally derived X pentasomy following intracytoplasmic sperm injection (ICSI) is rare, prenatal detection of a case offers insight into etiology and diagnosis. A 29-year-old gravida 1 whose pregnancy resulted from ICSI was referred for ultrasound screening at 11 weeks' gestation. Nuchal translucency thickness was 3.2 mm, and the fetal nasal ...

PURPOSE: A recurrent 17 bp duplication (c.657ins17bp) of a segment of the paired-like homeodomain transcription factor 3 (PITX3) gene on human chromosome 10 has been reported in seven families with autosomal dominant posterior polar cataracts with or without anterior segment mesenchymal dysgenesis (ASMD). ASMD can include Peters anomaly with corneal ...

Objective. Trefoil factors (TFF1-3) are 7-12 kDa peptides secreted by mucosal surfaces, with changing levels of expression reflected in serum concentrations. The genes for the peptides are located on chromosome 21, the chromosome duplicated in trisomy 21. We studied the levels of circulating TFFs in pregnant women carrying trisomy 21 ...

OBJECTIVE: To assess second-trimester screening for trisomy 21 by combining ultrasound nuchal fold (NF) measurement with maternal serum biochemistry. METHODS: NF, maternal serum alpha-fetoprotein (AFP) and free beta-human chorionic gonadotropin (beta-hCG) were determined concurrently at 14-19 weeks' gestation in a study population comprising 1813 women with singleton pregnancies, including 1257 ...

OBJECTIVE: To investigate the frontomaxillary facial (FMF) angle in fetuses with trisomy 13 at 11 + 0 to 13 + 6 weeks of gestation. METHODS: A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 23 ...

OBJECTIVE: To establish the normal range of the frontomaxillary facial (FMF) angle at 11 + 0 to 13 + 6 weeks of gestation. METHODS: In this prospective study, three-dimensional (3D) volumes of the fetal head were obtained from 500 pregnancies before fetal karyotyping by chorionic villus sampling (CVS), after screening ...

OBJECTIVE: To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. METHODS: During a 7-month period (November 2004-May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses ...

OBJECTIVE: Our objective was to describe performance of first-trimester combined risk assessment in twin pregnancies. STUDY DESIGN: Twin pregnancies that underwent risk assessment in our ultrasound unit from 2003-2006 were included. Adjusted risks for trisomies 21 and 18 that were based on age, nuchal translucency (NT), and biochemistry were provided ...

OBJECTIVE: To establish the potential role of three-dimensional (3D) power Doppler evaluation of the placental circulation in aneuploidy screening at 11 to 13 + 6 weeks of gestation. METHODS: 3D power Doppler ultrasound examination of the placenta was performed in 25 pregnancies with fetuses with abnormal karyotype and in 100 ...

We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a ...

BACKGROUND: ADAM12 (a disintegrin and metalloprotease 12) is a placentally derived glycoprotein that appears to be involved in growth and differentiation. The maternal serum concentration of ADAM12 appears to be a very good marker of trisomy 21 in the early first trimester when levels are reduced, and in the second ...

OBJECTIVE: The aim of this study is to describe a fetus with androgen insensitivity syndrome diagnosed at mid-second trimester. CASE AND METHODS: Nuchal translucency was measured thick and double test was found higher. The patient referred to our center at 16(th) weeks of gestation. Fetal ultrasound examination and amniocentesis was ...

OBJECTIVE: The purpose of this study was to examine sonographic findings in fetuses with trisomy 13. METHODS: A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 13. The prenatal sonographic studies in fetuses of less than 22 weeks' gestation, done before ...

OBJECTIVE: To describe the observation of embryonic thoracic fluid at around 8 weeks' gestation and to discuss the likely etiology. METHODS: This was a retrospective study of patients referred between August 2005 and May 2006 to our units in France and in the USA for a dating scan between 6 ...

OBJECTIVE: The purpose of this study was to evaluate the ability to screen for structural fetal anomalies during the nuchal translucency (NT) ultrasound examination, without performing a complete anatomic fetal scan, by using the sagittal views of the fetus. STUDY DESIGN: In a prospective study, we evaluated all the suspected ...

OBJECTIVES: First-trimester nuchal translucency thickness (NT) is a potent tool for assessment of fetal risks of aneuploidy and other adverse outcomes. When NT is increased, Doppler assessment of the ductus venosus (DV) enhances the prediction specificity for Down syndrome. This study assessed abnormal Doppler DV waveform as a predictor of ...

OBJECTIVE: to find out the incidence of nuchal cord at delivery, intrapartum complication and perinatal outcomes in the cases with nuchal cord. MATERIALS AND METHODS: A prospective, cross-sectional, comparative study done at Kathmandu Medical College Teaching Hospital (KMCTH) between March 2006 to September 2006. Total 512 deliveries occurred during this ...

OBJECTIVES: To study the outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency thickness (NT), with respect to fetal loss, structural defects and genetic syndromes with developmental delay, and to provide information that would be helpful for parental counseling on the residual risk of adverse outcome when ultrasound ...

This communication presents the first case of complete trisomy 19q, prenatally detected by ultrasound investigation. Real-time high-resolution ultrasound examination was performed at 19 weeks of gestation. After termination of the pregnancy, autopsy investigation was done. GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific ...

OBJECTIVE: Case report of a rare combination of a trisomy 18 and 21 in a dizygotic twin pregnancy in a woman with a history of recurrent miscarriage, a neonatal death, no living offspring and Graves disease. METHODS: Case report and literature search. RESULTS: Only one other report in the literature ...

OBJECTIVE: To report our experience with first-trimester screening for trisomy 21 by using the combination of nuchal translucency thickness and nasal bone assessment. METHODS: Pregnant women from a predominantly Latin American population consisting of patients at both low risk and high risk for chromosomal defects underwent first-trimester ultrasonographic screening. Nuchal ...

BACKGROUND: Thickened nuchal translucency (NT) has been related to fetal genetic syndromes, structural abnormalities, and other diseases. The aim of this research was to evaluate the association of NT with adverse pregnancy outcomes. STUDY DESIGN: In the period 2002-2004 in 2104 pregnant women between 10+6 and 13+5 weeks' gestation, NT ...

OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was ...

Failed ultrasonographic visualization of nasal bones is associated with an increased risk of fetal malformations. Maternal ethnicity and chromosomal abnormalities influence the incidence and visualization rate of nasal bones. A case of absent nasal bones with fronto-nasal dysplasia and septated cystic hygroma identified at 13(+5) weeks' gestation in a trisomy ...

OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy in general gynaecologists' practices and specialised centres for prenatal care in Germany. METHODS: This study included 15,026 serum samples analysed in our laboratory for free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma ...

This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal ...

OBJECTIVE: To estimate whether nuchal translucency assessment is a useful screening tool for major congenital heart disease (CHD) in the absence of aneuploidy. METHODS: Unselected patients with singleton pregnancies at 10(3/7) to 13(6/7) weeks of gestation were recruited at 15 U.S. centers to undergo nuchal translucency sonography. Screening characteristics of ...

BACKGROUND: Identification of fetal nucleated red blood cells (NRBCs) in maternal circulation can facilitate non-invasive prenatal diagnosis, but technical difficulties still exist. An increase in the number of circulating NRBCs, however, could indicate fetal aneuploidies or pregnancy complications. MATERIALS AND METHODS: The number of NRBCs was determined from 20 mL ...

OBJECTIVE: To determine the early outcome and the incidence of associated structural anomalies in pregnancies complicated by severe fetal ventriculomegaly (VM). METHODS: A review of cases of severe fetal VM (posterior horn of lateral ventricle > 15 mm at referral or during prenatal follow-up) referred to a fetal medicine centre ...

Using data from a birth defects registry, this study investigated whether pregnancy outcome influences completeness of diagnosis ascertainment for cases with seven selected birth defects. For anencephaly, spina bifida, encephalocele, trisomy 21, trisomy 13, and trisomy 18, the proportion of isolated cases was higher among elective terminations than among live ...

Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long-term outcomes. We present an additional case of prenatally detected isochromosome 20q, with ...

OBJECTIVE: To assess the performance of nuchal translucency (NT) measurement in the first trimester of pregnancy as a marker for congenital heart defects (CHD) in the fetus in a low-risk obstetric population. METHODS: Nuchal translucency screening was offered over a 3-year period to consecutive pregnant women without known a priori ...

PURPOSE: To investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 18. METHODS: Out of 22,150 fetal chromosomal analyses performed between 1990 and 2004, 70 trisomy 18 fetuses were found. The sonographic findings of this aneuploidy were analyzed. RESULTS: The average maternal age was 32.4 years; ...

OBJECTIVES: Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other ...