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PubMed2005

The role of the second trimester genetic sonogram in screening for fetal Down syndrome.

The Genetic Sonogram is an ultrasound examination done on second trimester fetuses that not only evaluates the fetus for structural malformations, but also searches for the sonographic markers of fetal Down syndrome. The main markers that comprise the genetic sonogram include the nuchal fold, short femur and humerus, pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and any major abnormality. The absence of any marker on a second trimester scan conveys a 60-80% reduction in prior risk of Down syndrome based on advanced maternal age or serum screen risk. The presence of sonographic markers, either singly or in combination, will raise the baseline risk of Down syndrome using likelihood ratios calculated for each individual marker. Using this approach, approximately 75% of fetuses with Down syndrome can be identified by modifying the patient's baseline risk according to the results of the ultrasound. The second trimester scan will likely continue to play an important role in the future in the detection of aneuploidy.

Down Syndrome↗
PubMed1997

Antenatally detectable markers for the diagnosis of autosomally trisomic fetuses in at-risk pregnancies.

Our aim was to investigate the contribution of certain antenatally detectable markers leading to the diagnosis of trisomic fetuses we observed over a period of 6 years. In our study, we specifically analyzed the role played by advanced maternal age and sonographically discovered abnormalities in the detection of autosomal trisomies. All together, 27 fetuses had this disorder, representing 28.7% (27 of 94) of all cytogenetic aberrations detected at our center over the same period. Down syndrome (12 cases) and Edward syndrome (11 cases) were the most common trisomies, while 4 cases of Patau syndrome were also diagnosed. The most common indication leading to diagnosis was abnormal ultrasound finding (48.2%), followed by advanced maternal age (44.4%). However, 63% of the trisomic fetuses belonged to mothers aged 35 years and above. Down syndrome fetuses (41.7%) had prenatally detected sonographic anomalies, 63.6% for Edward syndrome, and all fetuses with Patau syndrome (4 of 4) showed abnormal sonographic signs. Trisomy 21 presented with the following features: hydramnios, complex malformations, pyelectasis, and duodenal atresia. Trisomy 18 fetuses showed hydramnios, intrauterine growth retardation, microcephaly, spina bifida, and nonimmune hydrops fetalis. Signs observed in fetuses with trisomy 13 were: hydrocephalus, intrauterine growth retardation, oligoanhydramnios, complex malformations, severe fetal bradycardia and hydronephrosis.

Adult↗
PubMed1997

In utero progression of isolated renal pelvis dilation.

The objective of this study to determine the risk of in uteroprogression of renal pelvis dilation when detected on antenatal ultrasound examination. We reviewed 230 fetuses with evidence of renal pelvis dilation. At least one exam was subsequently performed prior to delivery in all cases. Renal pelvis dilation was defined as an anterior-posterior renal pelvis measurement > 4 mm at < 32 weeks' and > 7 mm at > or = 32 weeks' gestation. Hydronephrosis was considered to be present when the renal pelvis measured +10 mm independent of gestational age. Multiple gestations and fetuses with additional congenital anomalies were excluded. The mean gestational age at diagnosis was 24 weeks. Renal pelvis dilation progressed to hydronephrosis in a total of 10.9% (25 of 230) of fetuses. There was a 3.3% chance of unilateral renal pelvis dilation progressing to hydronephrosis versus 26.0% in bilateral dilation (OR 10.4 [95% Cl 3.5-33.3]). Of those fetuses with progression, 80% had bilateral dilation (p < 0.0001). There was no difference in progression between right and left kidneys. Additionally, gender, gestational age at diagnosis and delivery, and birth weight did not differ between those fetuses with and without progression. The hydronephrosis in 7 of 25 (28%) regressed to pyelectasis on a subsequent ultrasound exam. Thus, the overall rate of progression of renal pelvis dilation to persistent hydronephrosis was 7.8% (18 of 230). In conclusion, the risk of isolated renal pelvis dilation progressing to hydronephrosis is low. Although bilateral pelvis dilation carries a higher risk for progression, no fetus in our study required in utero intervention. A follow up scan prior to delivery may be considered to identify those fetuses who will require postpartum intervention.

Adult↗
PubMed1999

Noninvasive means of identifying fetuses with possible Down syndrome: a review.

Women who are 35 years or older are offered invasive prenatal testing because of the increased risk of chromosomal abnormalities, especially Down syndrome. In an attempt to increase the number of Down syndrome fetuses being detected and decrease the number of invasive procedures being performed on pregnancies not affected with a chromosome abnormality, both biochemical and ultrasound screening methods are being studied and are summarized in this article. The ultrasound markers reviewed include increased nuchal thickness, increased nuchal lucency, shortened femur, shortened humerus, pyelectasis, hypoplastic ears, echogenic intracardiac focus, hypoplasia of the fifth middle phalanx, and echogenic bowel.

Adult↗
PubMed2001

The use of radiography, urodynamic studies and cystoscopy in the evaluation of voiding dysfunction.

PURPOSE: Children with dysfunctional voiding disorder often undergo radiological, cystoscopic or urodynamic evaluation to identify an anatomical or organic cause. We determined the role of these studies in the evaluation, management and ultimate outcome of a large patient population with voiding dysfunction at a single institution. MATERIALS AND METHODS: We retrospectively evaluated the records of 1, 153 children with dysfunctional voiding disorder treated from 1990 to 1999. A thorough history and physical examination with specific emphasis on voiding patterns were done and urinalysis was performed in all cases. Ultrasound of the urinary system and excretory urography were done in 1,050 (91%) and 24 (2%) patients, respectively, while voiding cystourethrography was performed in 672 (58%), including 564 with a history of nonfebrile urinary tract infection. Cystoscopy and a formal urodynamic study were performed in 61 (5%) and 40 (3.5%) cases, respectively. RESULTS: Mean patient age at referral was 6 years (range 3 to 14). Of the children 74% were girls and 26% were boys. Physical examination of the abdomen, back, genitalia and neurological system was unremarkable in all cases. Ultrasound of the upper urinary system was normal in 1,018 patients (97%) and showed insignificant pyelectasis in 32 (3%). All 24 excretory urography studies were normal and voiding cystourethrography was normal in 470 of 672 cases (70%). Unilateral and bilateral low grade, and unilateral high grade reflux was present in 108, 19 and 3 patients, respectively. Urodynamic studies were performed in 40 children who did not respond to standard treatment. We noted detrusor instability in 16 patients, detrusor-sphincter dyssynergia in 6 and sensory abnormality in 3, while the study was completely normal in 10. Cystoscopy revealed normal findings in 17 cases, trabeculations in 21, inflammation in 20 and type 1 posterior urethral valves in 2. CONCLUSIONS: The incidence of upper tract changes and positive anatomical findings in children with voiding dysfunction is too low to justify routine radiological evaluation and cystoscopy. However, in those who present with a nonfebrile urinary tract infection there remains an important role for voiding cystourethrography. We do not recommend routine urodynamics in children with voiding disorder because this study does not change therapy or influence the final outcome. Thorough history and physical examination lead to the correct diagnosis and treatment in the majority of children. A focus on correcting faulty voiding behavior with the judicious administration of antibiotics and anticholinergic therapy leads to a favorable outcome in most cases.

Algorithms↗
PubMed1986

Multicystic dysplastic kidney: observations of contralateral disease in the fetal population.

To evaluate multicystic dysplastic kidney (MDK) and associated contralateral renal abnormalities in the fetal population, 27 cases detected and followed in utero were reviewed retrospectively. The sonographic assessment included estimation of amniotic fluid volume and interval growth, evaluation for non-genitourinary anomalies, and postnatal follow-up study. Contralateral renal anomalies were detected in 41% of the fetuses and included obstruction of the ureteropelvic junction, renal agenesis, renal hypoplasia, and bilateral MDK. The incidences of these malformations were compared with results of earlier studies of MDK in the pediatric and adult populations. Lethal anomalies, such as bilateral MDK and MDK associated with contralateral agenesis, are common (19% and 11%, respectively) in the fetal population; obstruction of the contralateral ureteropelvic junction, a nonlethal anomaly, was seen less commonly (7%). Perinatal death from lethal abnormalities may spuriously raise the incidence of nonlethal contralateral abnormalities in the pediatric and adult populations. Contralateral mild fetal pyelectasis, found in 15% of fetuses with MDK, was not clinically significant.

Cysts↗
PubMed1985

Role of the diuresis renogram in the study of the pelviureteric junction.

A consecutive series of 29 patients (33 pelviureteric units) with urographic signs of altered passage through the pelviureteric junction underwent diuresis renography performed by means of an intravenous injection of 99mTc-diethylenetriamine pentaacetic acid/kg body weight followed by intravenous administration of frusemide. Anderson-Hynes pyeloplasty was performed in 19 pelviureteric units with a modest or almost absent fall in the renographic curve after diuretic injection; 2 other symptomatic patients, in whom a moderate fall of the same curve was found also underwent surgery. Complete normalization of the renogram was observed in 17 of 21 operated patients. Severe functional deficit and polymegacalicosis were evident in 3 and 1 patient, respectively, with unchanged postoperative renograms. During follow-up (6 months to 2 years) diuresis renography remained unaltered in non-operated units. Our experience indicates how the diuresis renogram not only gives functional confirmation of a pelviureteric junction obstruction, but is also helpful in resolving situations in which there is a discrepancy between symptoms and urographic signs. Furthermore it provides an accurate method for evaluating the results of pyeloplasty. However, the use of this investigation is not, in our opinion, indicated in the presence of severe functional deficit of the kidney or pyelectasis.

Adolescent↗
PubMed1997

Antenatal screening for Down's syndrome.

BACKGROUND: In 1968 the first antenatal diagnosis of Down's syndrome was made and screening on the basis of selecting women of advanced maternal age for amniocentesis was gradually introduced into medical practice. In 1983 it was shown that low maternal serum alpha fetoprotein (AFP) was associated with Down's syndrome. Later, raised maternal serum human chorionic gonadotrophin (hCG), and low unconjugated oestriol (uE3) were found to be markers of Down's syndrome. In 1988 the three biochemical markers were used together with maternal age as a method of screening, and this has been widely adopted. PRINCIPLES OF ANTENATAL SCREENING FOR DOWN'S SYNDROME: Methods of screening need to be fully evaluated before being introduced into routine clinical practice. This included choosing markers for which there is sufficient scientific evidence of efficacy, quantifying performance in terms of detection and false positive rates, and establishing methods of monitoring performance. Screening needs to be provided as an integrated service, coordinating and managing the separate aspects of the screening process. SERUM MARKERS AT 15-22 WEEKS OF PREGNANCY: A large number of serum markers have been found to be associated with Down's syndrome between 15 and 22 weeks of pregnancy. The principal markers are AFP, hCG or its individual subunits (free alpha- and free beta-hCG), uE3, and inhibin A. Screening performance varies according to the choice of markers used and whether ultrasound is used to estimate gestational age (table 1). When an ultrasound scan is used to estimate gestational age the detection rate for a 5% false positive rate is estimated to be 59% using the double test (AFP and hCG), 69% using the triple test (AFP, hCG, uE3), and 76% using the quadruple test (AFP, hCG, uE3, inhibin A), all in combination with maternal age. Other factors that can usefully be taken into account in screening are maternal weight, the presence of insulin dependent diabetes mellitus, multiple pregnancy, ethnic origin, previous Down's syndrome pregnancy, and whether the test is the first one in a pregnancy or a repeat. Factors such as parity and smoking are associated with one or more of the serum markers, but the effect is too small to justify adjusting for these factors in interpreting a screening test. URINARY MARKERS AND FETAL CELLS IN MATERNAL BLOOD: Urinary beta-core hCG has been investigated in a number of studies and shown to be raised in pregnancies with Down's syndrome. This area is currently the subject of active research and the use of urine in future screening programmes may be a practical possibility. Other urinary markers, such as total oestriol and free beta-hCG may also be of value. Fetal cells can be identified in the maternal circulation and techniques such as fluorescent in situ hybridisation can be used to identify aneuploidies, including Down's syndrome and trisomy 18. This approach may, in the future, be of value in screening or diagnosis. Currently, the techniques available do not have the performance, simplicity, or economy needed to replace existing methods. DEMONSTRATION PROJECTS: Demonstration projects are valuable in determining the feasibility of screening and in refining the practical application of screening. They are of less value in determining the performance of different screening methods. Several demonstration projects have been conducted using the triple and double tests. In general, the uptake of screening was about 80%. The screen positive rates were about 5-6%. About 80% of women with positive screening results had an invasive diagnostic test, and of those found to have a pregnancy with Down's syndrome, about 90% chose to have a termination of pregnancy. ULTRASOUND MARKERS AT 15-22 WEEKS OF PREGNANCY: There are a number of ultrasound markers of Down's syndrome at 15-22 weeks, including nuchal fold thickness, cardiac abnormalities, duodenal atresia, femur length, humerus length, pyelectasis, and hyperechogenic bowel. (ABSTRA

Biomarkers↗
PubMed1992

Sonographic scoring index for prenatal detection of chromosomal abnormalities.

Current indications for cytogenetic evaluation leave the majority of Down syndrome fetuses undetected. Using advanced maternal age and low maternal serum alpha-fetoprotein (AFP) levels as criteria, only 40% of fetuses with Down syndrome (trisomy 21) are identified (positive predictive value, 0.4% to 1%). We evaluate the sonographically detectable physical features of second trimester fetuses to determine whether these features are more sensitive and specific than maternal age for detecting fetuses with abnormal karyotypes. From March 1, 1990, to September 1, 1991, more than 5,000 fetuses between 14 and 20 weeks of development were referred for genetic amniocentesis because of advanced maternal age or abnormal AFP levels. Forty-three of these 5,000 fetuses were later found to have autosomal trisomies by karyotype (32 with trisomy 21, nine with trisomy 18, and two with trisomy 13). A sample of 588 consecutive normal fetuses from the total of more than 5,000 amniocenteses performed during this period of time was used as our control group for statistical analysis. The sonographic features of these 588 normal second trimester fetuses and the 43 trisomic fetuses recorded prospectively prior to knowledge of the karyotype were evaluated statistically. The femur and humerus lengths, nuchal fold, renal pelvic dimension, and major structural defects were compared in the normal and trisomic fetuses. On the basis of our results, a weighted sonographic score was developed to optimize the detection of fetuses at risk for aneuploidy. Using our previously published formulas and criteria for a short femur and humerus, 17/32 (53%) fetuses with Down syndrome and 23/588 (3.9%) of the normal fetuses were identified. Twenty two of 32 Down syndrome fetuses (69%) and 2/588 (0.34%) of normals had a nuchal fold > or = 6 mm, and 11 of 32 Down syndrome fetuses and all those with trisomies 18 and 13 had a major anomaly detected sonographically. The following scoring system was developed for the detection of aneuploidy: nuchal fold = 2, major structural defect = 2, and short femur, short humerus, and pyelectasis = 1 each. Selecting fetuses with a score of > or = 2 would identify 26/32 (81%) Down syndrome fetuses, and 9/9 (100%) and 2/2 (100%) fetuses with trisomies 18 and 13 respectively, but only 26/588 (4.4%) of the normal fetuses. Using the sonographic score of 2 results in a positive predictive value for a 1/250 risk group of 6.87% for identifying Down syndrome fetuses and 7.25% for all three trisomies.(ABSTRACT TRUNCATED AT 400 WORDS)

Amniocentesis↗
PubMed1999

Best second trimester sonographic markers for the detection of trisomy 21.

We analyzed all genetic sonograms obtained during a 6 year period to establish the independent ability of the following sonographic markers of aneuploidy in the diagnosis of trisomy 21: structural anomalies, cardiac abnormalities, nuchal fold thickness of 6 mm or greater, bowel echogenicity, choroid plexus cysts, and renal pyelectasis. With the exception of bowel echogenicity and choroid plexus cysts, the sonographic markers were more common in trisomy 21 than euploid fetuses (all P < 0.001). Logistic regression analysis demonstrated that cardiac anomalies (odds ratio = 255; 95% confidence interval, 25, 2592), other structural anomalies (odds ratio = 25; 95% confidence interval, 6, 97), and nuchal fold thickness of 6 mm or greater (odds ratio = 13; 95% confidence interval, 3, 50) were the only independent predictors of trisomy 21. The false-positive rate and sensitivity were 5.3% (48 of 898) and 59.2% (13 of 22), respectively, when any of the sonographic markers significant at univariate analysis was considered, and 3.1% (28 of 898) and 54.5% (12 of 22), respectively, when any of the predictors at multivariate analysis was present. Because a considerable overlap of sonographic markers exists among trisomy 21 fetuses, use of those that are not independent predictors leads to an increase in false-positive rate without a gain in sensitivity.

Adult↗
PubMed2001

Sonographic markers of fetal trisomies: second trimester.

OBJECTIVE: Second-trimester sonographic findings of fetal trisomy may include structural abnormalities or sonographic markers of fetal aneuploidy. Unlike structural anomalies, sonographic markers of fetal aneuploidy are insignificant by themselves with regard to outcome, are nonspecific--most frequently seen in normal fetuses, and are often transient. Our objective was to review the second-trimester sonographic findings of the major trisomic conditions, trisomies 13, 18, and 21. METHODS: We reviewed a number of the most commonly accepted markers, including nuchal thickening, hyperechoic bowel, echogenic intracardiac focus, renal pyelectasis, shortened extremities, mild cerebral ventricular dilatation, and choroid plexus cysts. Markers associated with trisomy 21 were emphasized. RESULTS: The sensitivity of sonography for detection of fetal trisomic conditions varies with the type of chromosome abnormality, gestational age at the time of sonography, reasons for referral, criteria for positive sonographic findings, and the quality of the sonography. As an estimate, 1 or more sonographic findings can be identified in approximately 90% of fetuses with trisomy 13, 80% of fetuses with trisomy 18, and 50% to 70% of fetuses with trisomy 21 (Down syndrome). CONCLUSIONS: The presence or absence of sonographic markers can substantially modify the risk of fetal Down syndrome and is the basis of the so-called genetic sonogram. Because maternal biochemical and sonographic markers are largely independent, combined risk estimates will result in even higher detection rates than either alone.

Chromosomes, Human, Pair 13↗
PubMed2002

The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester.

OBJECTIVE: To determine the risk of Down syndrome in fetuses with sonographic markers using the Bayes theorem and likelihood ratios. METHODS: We prospectively evaluated the midtrimester sonographic features of fetuses with Down syndrome and compared them with euploid fetuses. Patients were referred for an increased risk of aneuploidy and evaluated for the presence of structural defects, a nuchal fold, short long bones, pyelectasis, an echogenic intracardiac focus, and hyperechoic bowel. All fetuses underwent amniocentesis at the time of sonographic assessment. The sensitivity, specificity, and likelihood ratios for markers were calculated both as nonisolated and isolated findings. RESULT: There were 164 fetuses with Down syndrome and 656 euploid fetuses. The presence of any marker resulted in sensitivity for the detection of Down syndrome of 80.5% with a false-positive rate of 12.4%. The absence of any markers conferred a likelihood ratio of 0.2, decreasing the risk of Down syndrome by 80%. As an isolated marker, the nuchal fold had an "infinite" likelihood ratio for Down syndrome; a short humerus had a likelihood ratio of 5.8, whereas structural anomalies had a likelihood ratio of 3.3. Other isolated markers had low likelihood ratios because of the higher prevalence in the unaffected population. The likelihood ratios for the presence of 1, 2, and 3 of any of the markers were 1.9, 6.2, and 80, respectively. CONCLUSIONS: Although an isolated marker with a low likelihood ratio may not increase a patient's risk of Down syndrome, the presence of such a marker precludes reducing the risk of aneuploidy. Clusters of markers appear to confer a higher risk.

Aneuploidy↗
PubMed2004

Correlation of second-trimester sonographic and biochemical markers.

OBJECTIVES: To investigate correlations between sonographic soft markers and biochemical markers (human chorionic gonadotrophin, alpha-fetoprotein, and estriol) for Down syndrome in the second trimester of pregnancy. METHODS: A total of 2183 women with apparently normal singleton fetuses who underwent second-trimester sonography (14-22 weeks) and maternal serum biochemical testing (triple test) were identified. Seven sonographic markers were recorded: nuchal fold thickness, humerus length, femur length, renal pyelectasis, hyperechoic bowel, echogenic intracardiac focus, and choroid plexus cysts. RESULTS: Weak negative but statistically significant correlations were observed between human chorionic gonadotropin (multiples of the median) and both femur length (multiples of the median; Spearman p = -0.073; P < .01) and humerus length (multiples of the median; Spearman p = -0.083; P < .01). No other correlations significant at the 1% level were observed between femur length (multiples of the median) or humerus length (multiples of the median) and the biochemical markers. There were no significant correlations between nuchal fold thickness and any of the 3 biochemical markers. At the 5% (P < .05) level, the median human chorionic gonadotropin level (multiples of the median) was lower when an echogenic intracardiac focus was detected. Hyperechoic bowel also tended to be associated with higher median human chorionic gonadotropin (multiples of the median) and alpha-fetoprotein (multiples of the median) levels (P < .05). CONCLUSIONS: We found that sonographic and biochemical markers for trisomy 21 are largely independent in unaffected pregnancies. For accurate risk estimation, correlations in both affected and unaffected pregnancies need to be considered. No or minimal correlation between sonographic markers and serum screening tests indicates that they can be used as independent modifiers of the maternal age-specific risk for Down syndrome.

Adult↗
PubMed2004

Prenatal sonographic diagnosis of hemivertebra.

OBJECTIVE: To describe our experience in prenatal diagnosis of hemivertebra. METHODS: This is a case series of patients referred to our tertiary medical center over a 3-year period. All fetuses were scanned by high-resolution real-time scanners. The apparent vertebral anomaly was assessed in a real-time manner by a joint team of obstetricians, sonographers, and pediatric orthopedic surgeons. A complete anomaly survey of other fetal organs was performed on each fetus. All patients were given proper counseling by the same joint team. All patients had detailed obstetric and neonatal follow-up. Prenatal sonograms, neonatal medical records, and clinical courses were evaluated retrospectively. RESULTS: During the 3 years, 6 cases of hemivertebra were identified in our department. Gestational age at diagnosis was 14 to 23 weeks. Two patients had conception by assisted reproductive technology. Associated anomalies included VATER syndrome (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), gastroschisis, and pyelectasis. Outcomes in fetuses without major associated anomalies were fair. CONCLUSIONS: Diagnosis of isolated hemivertebra might be associated with a favorable outcome. The 3 key factors in achieving an optimal spine at maturity, early diagnosis, anticipation, and prevention of deterioration, might be enhanced by our joint multidisciplinary approach to the diagnosis of skeletal anomalies.

Abnormalities, Multiple↗
PubMed2005

Does the frequency of soft sonographic aneuploidy markers vary by fetal sex?

OBJECTIVE: To determine whether the frequency of soft sonographic aneuploidy markers varies by fetal sex. METHODS: We identified all singleton fetuses with known sex undergoing genetic sonography at 17 weeks' to 21 weeks 6 days' gestation in a single perinatal center from January 1, 2000, to December 31, 2003. Markers studied were biparietal diameter/femur length, transcerebellar diameter, ear length, echogenic bowel, femur length, humerus length, absent middle fifth phalanx, nuchal fold, renal pelvis dilatation, echogenic cardiac focus, and choroid plexus cysts. Additional information extracted from the prospectively ascertained database included maternal age, referral indications, and chromosomal analyses. Multiple gestations and fetuses with structural or chromosomal abnormalities were excluded. The study received exempt review status by the Institutional Review Board. Dichotomous variables were compared by the chi(2) or Fisher exact test; continuous variables were compared by the unpaired t test. RESULTS: In total, 4057 eligible fetuses, 2103 male and 1954 female, were examined at 18.9 +/- 0.9 weeks (mean +/- SD). Referral indications included maternal age of 35 years or older (n = 2983), abnormal second-trimester serum screen results (n = 610), soft marker on sonography (n = 583), prior aneuploid offspring (n = 24), and other (n = 125). More than 1 referral indication was possible for a given fetus. Overall, male fetuses exhibited echogenic fetal bowel (odds ratio, 1.76; 95% confidence interval [CI], 1.14-2.72; P = .009) and renal pelvis dilatation (odds ratio, 2.00; 95% CI, 1.30-3.09; P = .001) significantly more often than female fetuses. However, when fetuses were evaluated for single isolated markers, only male predominance of renal pelvis dilatation persisted (odds ratio, 2.32; 95% CI, 1.32-4.09; P = .003). No markers had increased frequency in female offspring. CONCLUSIONS: Male fetuses exhibit a significantly increased frequency of renal pelvis dilatation compared with female fetuses. Sex-specific adjustment of sonographically derived aneuploidy risk does not appear to be indicated. However, a larger series of fetuses with trisomy 21 and pyelectasis is required to assess sex-specific risk adjustment for this marker.

Adult↗
PubMed2006

Evaluating the efficiency of using second-trimester nasal bone hypoplasia as a single or a combined marker for fetal aneuploidy.

OBJECTIVE: Although second-trimester nasal bone (NB) hypoplasia has been associated with fetal aneuploidy, its role as a single marker is still uncertain. Our objective was to evaluate the efficiency of NB hypoplasia as an independent marker for fetal aneuploidy. METHODS: This was a prospective cohort study of women undergoing an anatomic survey between 16 and 22 weeks' gestation. The fetal NB and other markers of fetal aneuploidy, including nuchal fold, femur and humeral lengths, choroid plexus cysts, major fetal anomalies, echogenic bowel, pyelectasis, and hypoplastic fifth digits, were evaluated. Nasal bone hypoplasia was defined either as an absent NB or by a ratio of the biparietal diameter to NB. Fetuses or infants with fetal aneuploidy were compared with those without for the presence of NB hypoplasia either as a single marker or in the presence of other markers for aneuploidy. RESULTS: Of 2885 women evaluated, NB measurements were obtained in 2465 (85%). There were 35 (1.4%) cases with fetal aneuploidy. The sensitivity and specificity of a single NB in detecting Down syndrome varied from 23% to 64% and 57% to 99%, respectively, depending on the definition of NB hypoplasia used. There was an improvement in the efficiency of using the NB when combined with other markers, with sensitivity and specificity increasing from 59% to 82% and 74% to 87%, respectively. CONCLUSIONS: Nasal bone hypoplasia is a marker for fetal aneuploidy. The combination of the NB with other makers was associated with an improvement in detection of fetal aneuploidy.

Abnormalities, Multiple↗
PubMed2007

Correlation of prenatal sonographic diagnosis and morphologic findings of fetal autopsy in fetuses with trisomy 21.

OBJECTIVE: The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21. METHODS: Among 22,150 fetal chromosome analyses, trisomy 21 was diagnosed in 207 fetuses between 1990 and 2004. Findings of second-trimester sonography and fetal autopsy were compared by organ system, and their correlation was assigned to 1 of 3 categories. RESULTS: In total, 83.1% of the 184 fetuses that constituted the final study group had 1 or more abnormal structural findings at postabortion pathologic examination, whereas in 16.9% of the cases, fetal pathologic examination did not reveal any defects in fetal anatomy. Among major structural defects, the agreement between sonographic and autopsy findings was greater than 60% of all abnormalities of these systems: central nervous system (65.4%), heart (67.4%), fetal hydrops (100%), and cystic hygroma (93.3%), whereas the concordance rate was lower in these organ systems: abdominal abnormalities (46.2%), renal anomalies (50%), facial abnormalities (1.2%), and extremities (4.4%). The rate of additional major findings at autopsy was 34.2%. These mainly involved 3 organ systems: heart, head, and abdominal anomalies. Some sonographic findings (n = 16) were not verified at autopsy. The concordances between sonographic and autopsy findings regarding soft markers were considerably high in these markers: increased nuchal fold thickness (72%), short femur/humerus (75%), and pyelectasis (51.9%). CONCLUSIONS: Examining the correlation between sonography and pathologic findings may indicate possible directions of further development in sonographic screening for trisomy 21. In addition to obstetricians, pediatricians, and geneticists, specialized perinatal pathologists have an important role in the multidisciplinary management of prenatally diagnosed fetal malformations.

Abortion, Eugenic↗
PubMed2000

Echographic signs of trisomy 21 in the second trimester of pregnancy: actual value after analysis of the literature.

OBJECTIVE: To evaluate the interest and to compare the major echographic signs of Down syndrome in the second trimester of pregnancy. METHODS: A bibliographic research has been performed for most of the echographic signs known and studied until now. For each study and in average for each sign, we have computed its sensitivity, its specificity, its positive and negative predictive values using the results of the different authors. Then, we have compared the benefits/risk ratio for each of these signs: the number of Down syndrome cases detected versus healthy fetus lost due to amniocentesis complications. RESULTS: The different signs can be ranked according to their benefits/risk ratio from top to bottom as follows: nuchal skinfold thickness, wide space between first and second toe, pyelectasis, large iliac angle, short humerus, short femur, hypoplasia of the middle phalanx of the fifth digit. CONCLUSION: These results suggest that second trimester echographic signs of Down syndrome must be evaluated as a function of the Down syndrome risk in the population under study. The presence of these signs does not always justify an amniocentesis; it should lead to a re-evaluation of the individual risk of a Down syndrome (a chart is given to guide this re-evaluation).

Down Syndrome↗