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, ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 ...

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' ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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, ...

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 ...

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 ...

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 ...

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), ...

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 ...

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. ...

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 ...

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, ...

OBJECTIVE: The purpose of this study was to examine the sonographic findings in fetuses with trisomy 18 in the second trimester of pregnancy. METHODS: A retrospective review of the cytogenetic laboratory databases at 6 tertiary referral centers identified all cases of trisomy 18. The prenatal sonographic studies in fetuses at ...

BACKGROUND: A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG ...

AIM: To study the persistence of nuchal cord by ultrasound at various periods of gestation. METHODS: Ultrasound was done on 200 consecutive pregnant women and nuchal cord was documented at 18-20, 30-32 and 36-38 weeks' gestation. RESULTS: The incidence of nuchal cord was 6% at 18-20 weeks, 7.5% at 30-32 ...

OBJECTIVES: To derive a model and examine the performance of first-trimester combined screening 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 carried out at 11 + 0 to 13 ...

We determined grain-scale heterogeneities (from 6 to 88 microg) in the stable carbon and oxygen isotopic compositions (delta(13)C and delta(18)O) of the international standard calcite materials (NBS 19, NBS 18, IAEA-CO-1, and IAEA-CO-8) using a continuous-flow isotope ratio mass spectrometry (CF-IRMS) system that realizes a simultaneous determination of the delta(13)C ...

PURPOSE: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. MATERIALS AND METHODS: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. RESULTS: 246 cases of AVSD were detected in the ...

OBJECTIVE: Counseling patients with an isolated ventricular septal defect (i-VSD) is clinically important because with high-resolution ultrasound equipment, more small muscular VSDs are now being diagnosed. The prevalence of these lesions is not yet completely described, and the frequency with which muscular VSDs resolve in utero has also not been ...

BACKGROUND: ADAM12s 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 here we study the levels at 11-13 ...

OBJECTIVE: We examined whether the combined use of high-sensitive C-reactive protein (hsCRP) and N-terminal-probrain natriuretic peptide (NT-proBNP) could increase the predictive value for future cardiovascular events. BACKGROUND: hsCRP and NT-proBNP both have been shown to be strong predictors of cardiovascular events in patients with coronary artery disease. Few data are, ...

OBJECTIVES: To use multiple regression analysis to define the contribution of maternal variables that influence the measured concentration of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), and the interaction between these covariates, in first-trimester biochemical screening for trisomy 21. METHODS: This was a multicenter study of prospective ...

OBJECTIVES: To establish a normal range for the frontomaxillary facial (FMF) angle by three-dimensional (3D) ultrasound imaging and to examine the FMF angle in trisomy 21 fetuses at 16-24 weeks of gestation. METHODS: We measured the FMF angle using 3D volumes of the fetal profile obtained with the transducer parallel ...

BACKGROUND: Here we study the levels of ADAM12s prior to and after 10 weeks of gestation to establish further the effectiveness or otherwise of ADAM12s as an early screening marker. MATERIALS AND METHODS: Samples collected as part of routine first-trimester screening were retrieved from storage at - 80 degrees C. ...

The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies ...

In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994-2003 data from a population-based surveillance system, the Metropolitan Atlanta Congenital Defects Program. Including fetal deaths and elective terminations increased ...

OBJECTIVE: To analyse parental decisions regarding pregnancies with sex chromosome abnormalities (SCA). METHODS: Collected and reviewed records from our hospital for 1991-2005. Genetic counselling was provided by obstetricians or perinatologists. RESULT: Among 57 fetuses with SCA were 36 non-mosaic cases (four of 36, 45,X; 12 of 36, 47,XXY; seven of ...

BACKGROUND: First-trimester maternal serum screening for Down syndrome (DS) can be improved by the use of additional serum markers. We examined whether progesterone (P), synthesized by placenta, might be a first-trimester maternal serum marker for fetal DS. MATERIALS AND METHODS: P was quantified in first-trimester maternal serum from 42 DS, ...

OBJECTIVE: To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11-14 weeks of gestation in chromosomally normal and abnormal fetuses. METHODS: Patients referred from January 1998 until May 2007 with an increased NT (> or = 95th percentile) where CHD was diagnosed ...