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PubMed2002

Factors affecting the decision regarding amniocentesis in women at genetic risk because of age 35 years or older.

OBJECTIVE: To evaluate the effects of anamnestic factors and sonographic findings on the patient's decision regarding amniocentesis in a cohort of women at genetic risk because of advanced age. METHODS: All women 35 years of age or older registered for prenatal care between January 1990 and December 1998 were asked about their attitude towards genetic amniocentesis during the course of individual genetic counseling and once again after ultrasound examination inclusive of markers of aneuploidies (nuchal fold thickness greater than 6 mm, renal pyelectasis, choroid plexus cysts, and hyperechogenic bowel). Their attitudes towards genetic amniocentesis before and after ultrasound examination were compared using chi-square, Fisher's exact test, Mann-Whitney U-test, and logistic regression analysis, with a two-tailed p < 0.05 or an odds ratio (OR) with 95% confidence interval (CI) not inclusive of the unity considered significant. RESULTS: Among the 1486 women in the cohort, 1368 (97%) expressed an opinion towards genetic testing at the time of counseling: 501 (37%) were in favor and 867 (63%) were against having the procedure. After ultrasonographic examination, 33% (446/1368) of women opted for amniocentesis, 36% (146/402) after abnormal findings and 31% (300/966) after normal ultrasound findings. Significantly more women with abnormal than normal ultrasound findings opted for diagnostic testing in both groups. Overall, only 8% (115/1368) of women changed their attitude towards diagnostic testing after ultrasonographic examination. Normal sonographic findings were three times more likely to change the attitude of women initially interested in amniocentesis than abnormal sonographic findings did in women a priori not interested in the procedure (20% versus 7%, p < 0.001, OR = 3.2, 95% CI 1.8; 5.8). CONCLUSIONS: In a cohort of women at genetic risk because of advanced age, the key determinant of the choice regarding genetic amniocentesis is the a priori opinion of the woman towards the procedure, which was expressed by 93% of women. Ultrasonography plays a secondary role in changing or confirming women's attitude towards invasive diagnostic testing. Normal sonographic findings affect women's decisions more powerfully than abnormal sonographic findings, suggesting that ultrasonography has an important reassuring function for the woman.

Adult↗
PubMed1998

Cystosonography with echocontrast: a new imaging modality to detect vesicoureteric reflux in children.

BACKGROUND: Conventionally, vesicoureteric reflux (VUR) is assessed by fluoroscopic micturating cystourethrography (MCU) or direct or indirect radionuclide cystography (RNC). There is preliminary experience with contrast-enhanced sonography for the detection of VUR. OBJECTIVE: To evaluate the usefulness of contrast-enhanced ultrasonography using galactose suspension as an echogenic contrast medium. MATERIALS AND METHODS: In this study a galactose suspension was instilled into the bladder in 58 neonates, infants and children along with normal saline to detect the presence and the severity of VUR through the enhanced US signal. The results were compared with those of MCU and RNC. One ml/kg of echocontrast in the neonatal age group, and 0.5 ml/kg thereafter, were slowly instilled through a 4-F catheter after preliminary supine and prone urinary tract US. Indications for the investigation were antenatally diagnosed pyelectasis (21 cases) and pyelonephritis (37 cases). In 38 patients echocontrast cystosonography (ECS) was performed before, and in 20 patients after, MCU or RNC. RESULTS: ECS detected 76 refluxing units in 50 patients. In eight patients, no VUR was shown, and none of these developed a urinary tract infection in 18 months of follow-up. In 43 patients, MCU or RNC detected 62 refluxing units, while in 15 no VUR was shown. Taking MCU as the gold standard and using the same grading scale, the sensitivity of ECS was 100 %. No side effects were observed. Several urinary tract abnormalities were detected by ECS. The male urethra was studied by ECS, both by retrograde infusion and during micturition. CONCLUSIONS: ECS is a promising imaging technique for detecting and grading VUR without exposing patients to ionising radiation.

Child↗
PubMed1998

Uroradiology in the fetus and newborn: diagnosis and follow-up of congenital obstruction of the urinary tract.

Abnormalities of the fetal urinary tract, most commonly hydronephrosis of differing causes, can be detected by ultrasound (US). Prenatal measurements of the kidney can help to predict the postnatal outcome of hydronephrosis. About 20% of abnormalities evident in utero are not present after birth. After delivery, various imaging procedures, particularly US and voiding cystourethrography may be necessary to evaluate prenatally diagnosed abnormalities. Pyelectasis may be due to obstruction and this may be assessed by sonography during diuresis, urography or diuretic renography. Renography can also evaluate global and split function of the kidneys. 123I-hippurate and 99 mTc-MAG3 are superior to 99 mTc-DTPA, but there is no 'gold standard' technique available to assess obstruction. The majority of cases of hydronephrosis, even those which appear to be due to obstruction, can be treated conservatively without deterioration of renal function. Primary megaureter is the second most common cause of obstructive hydronephrosis in the newborn. The diagnostic procedures are similar if the dilated ureter persists unchanged and the infant is asymptomatic. Newborns with antenatally detected renal abnormalities frequently have associated vesicoureteric reflux.

Female↗
PubMed2004

A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.

We describe for the first time an infant with Down syndrome and congenital nephrogenic diabetes insipidus (NDI). The 11-day-old Japanese boy was admitted with failure to thrive and fever. Polyuria (3,000-3,500 ml/m(2) per day), low urine specific gravity (1.001-1.002), and high plasma arginine vasopressin (AVP) (18.2 pg/ml) suggested NDI. Gene analysis confirmed the diagnosis of congenital NDI due to a novel mutation of the V2 receptor gene (L309P). He also had symptoms of Down syndrome and karyotype analysis of the peripheral lymphocytes revealed trisomy 21. The relationship between pyelectasis and a risk of Down syndrome is discussed.

Diabetes Insipidus, Nephrogenic↗
PubMed1995

Role of prenatal ultrasonography in women with positive screen for Down syndrome on the basis of maternal serum markers.

OBJECTIVE: Our purpose was to evaluate the usefulness of prenatal ultrasonography among women with a positive screen for fetal Down syndrome on the basis of three biochemical markers--maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. STUDY DESIGN: A total of 395 women underwent prenatal ultrasonography at a single institution after being identified as screen positive (midtrimester risk > or = 1:195) on the basis of triple-marker screening between 15 and 18 weeks. Ultrasonographic findings were compared with the biochemical markers and the eventual fetal outcome for these patients. Ultrasonographic abnormalities that were evaluated included structural defects, nuchal thickening or cystic hygroma, echogenic bowel, cerebral ventricular dilatation, pyelectasis, and shortened femur. RESULTS: Among 395 patients, 374 (94.7%) had normal karyotype by genetic amniocentesis (n = 232) or postnatal follow-up (n = 142), 18 (4.5%) proved to have Down syndrome, and three had other karyotypic abnormalities. One or more ultrasonographic abnormalities were found in nine of 18 (50%) with Down syndrome compared to 27 of 377 (7.2%) other fetuses (p < 0.001). Fetuses with abnormal ultrasonography results included three with other chromosome abnormalities and five with nonchromosomal anomalies. An abnormal ultrasonography result increased the risk of Down syndrome by 5.6-fold (25% from 4.5%) and a negative result reduced the risk by 45% (2.5% from 4.5%). The value of ultrasonography is further enhanced when all chromosome abnormalities and nonchromosomal anomalies are considered. CONCLUSION: Abnormal ultrasonographic findings increase the risk for Down syndrome, whereas normal findings are less predictive of normalcy. After correction for inaccurate menstrual dates, genetic amniocentesis should be offered in spite of a normal ultrasonography result among women with positive triple screen.

Adult↗
PubMed1996

The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21.

OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.

Adult↗
PubMed2005

The impact of gestational age on the sonographic detection of aneuploidy.

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 markers were subdivided into major abnormalities and "soft" sonographic markers: nuchal thickening > or = 5 mm, humerus or femur length <10th percentile, intracardiac echogenic focus, echogenic bowel, pyelectasis > or = 4 mm, and choroid plexus cysts. Markers were stratified by karyotype and gestational age. RESULTS: Fifteen fetuses with trisomy 13, 32 with trisomy 18, and 49 with trisomy 21 were identified. There was no difference in the prevalence of ultrasound markers by gestational age (P = .40). Soft markers were more common in the second trimester of pregnancy (P = .006) with a trend toward increased prevalence of major anomalies with advancing gestation (P = .22). CONCLUSION: Although sonographic markers change with gestational age, these markers are present throughout gestation and can provide clinically useful information to guide patient counseling.

Adult↗
PubMed2006

Prenatal sonographic findings in 207 fetuses with trisomy 21.

OBJECTIVE: The objective was to evaluate the contribution of second trimester ultrasound examination to the prenatal diagnosis of trisomy 21 in 207 fetuses with this aneuploidy. The type and frequency of abnormal sonographic findings were determined. Possible multiple malformation patterns, characteristic of trisomy 21 were sought. STUDY DESIGN: Singleton fetuses that had prenatal sonography during the second trimester, then underwent cytogenetic evaluation in our institution, made up the study population. The sonographic findings of 207 fetuses with trisomy 21 were analyzed. RESULTS: Between 1990 and 2004, fetal karyotyping was performed in 22,150 patients for different indications. An abnormal karyotype was diagnosed in 514 cases (2.3%); among them 207 fetuses with trisomy 21 were detected (40.3%). Abnormal sonography was seen in 63.8% of the cases. Structural anomalies were detected in 28.5% of the trisomy 21 fetuses, among them cardiac defects (15.9%), central nervous system anomalies (14.5%), and cystic hygromas (6.8%) were the most common. Of the minor markers, increased nuchal translucency (28%), pyelectasis (20.3%), and shorter extremities (8.7%) were common findings. CONCLUSIONS: Appropriate diagnosis of structural anomalies, looking for relatively easily detectable minor markers and incorporating fetal echocardiography into the second trimester sonographic protocol, may increase the contribution of mid-trimester ultrasound examination to diagnosing trisomy 21.

Down Syndrome↗
PubMed1991

Clinical outcome of fetal uropathy. II. Sensitivity of echography for prenatal detection of obstructive pathology.

Among 8,579 neonates born between February 1, 1981 and March 31, 1987, and cleared by prenatal sonography for significant urinary tract abnormality 158 subsequently were hospitalized because of signs or symptoms of urinary tract disease, predominantly urinary tract infection. Evaluation of these 158 patients revealed 24 with vesicoureteral reflux, 7 with duplicated systems (2 of which showed reflux), 1 with the syndrome of Fraley, 1 with pyelectasis and 5 with mild hydronephrosis (3 secondary to reflux and 2 with diethylenetriaminepentaacetic acid renal scans considered to be nonobstructed). There was no incidence of significant obstructive uropathy that had been missed by the previous prenatal sonography and that surfaced subsequently to cause morbidity in this series. The principal disorder of the urinary tract that may fail prenatal investigation is vesicoureteral reflux.

Child, Preschool↗
PubMed2005

[Role of "subtle" ultrasonographic signs during antenatal screening for trisomy 21 during the second trimester of pregnancy: meta-analysis and CPDPN protocol of the Grenoble University Hospital].

OBJECTIVE: A meta-analysis about subtle ultrasonographic signs in second trimester of pregnancy. MATERIALS AND METHODS: 196 articles dealing with the subject--from 1985 to July 2002--were studied. Data on the 11 reported signs were collected from 92 theoretically and/or statistically valid studies. Then, the studies were selected according to several criteria: isolated characteristic, defined thresholds, calculable sensitivity and specificity. After checking for homogeneity, a likelihood ratio was calculated for some of the signs. RESULTS: This meta-analysis of the second trimester ultrasonographic signs of Down's syndrome enabled us to estimate the likelihood ratio (LHR) of six signs. At 22 weeks'gestation (WG) these signs are: pyelectasis equal to or greater than 5 mm; nuchal fold thickness equal to or greater than 6 mm; persistence of choroid plexus cysts; shortness of the femur and humerus below the tenth percentile; hyperechogenic bowe; and nasal bone length less than 2.5 mm. CONCLUSION: These validated ultrasonographic signs are independent of nuchal translucency thickness at 12 WG and of maternal serum biochemistry. This allows to calculate a combinate risk for nuchal translucency, maternal serum biochemistry and second trimester ultrasonographic signs when they are validated.

Choroid Plexus↗
PubMed1989

The impact of computed tomography in the diagnosis and postoperative follow-up of ureteric obstruction in aorto-iliac aneurysmal disease.

Between 1979, the advent of computed tomography in our institution, and 1987 we have treated 520 aorto iliac aneurysms surgically, almost 2/3 on an elective basis, the others (183 = 35.2%) being ruptured. Among non-ruptured aneurysms 220 were symptomatic and 19 of 20 cases with ureteric entrapment occurred in these patients corresponding to 8.6% of this subgroup and verified at surgery. In all of these cases the association between ureteric obstruction and the underlying aneurysmal disease was clearly documented by computed tomography. In 8 patients ureteric entrapment was caused by an inflammatory aneurysm, in 12 cases by an arteriosclerotic aneurysm which in one case was a largely expanded internal iliac aneurysm left behind during previous surgery for a ruptured aorta aneurysm. Postoperative follow-up studies of the 8 patients with an inflammatory aneurysm revealed a time-dependent regression heading towards complete disappearance of perivascular fibrosis. Because of potential difficulties associated with the surgical treatment of inflammatory aneurysms it is important to identify perivascular fibrosis and its extent and localization pre-operatively, which can only be achieved by a CT scan. Simultaneously, CT offers information concerning the presence and degree of pyelectasis and calyceal dilatation, identifies the localisation of ureteric entrapment, defines the extent of aneurysmal disease of the iliac arteries, is best-suited for postoperative follow-up in all of the cases and has the most to offer if contrast medium investigations are contra-indicated in the presence of renal insufficiency. Probably the main reason, if not the only one for preoperative angiography, is to demonstrate associated anomalies of the visceral arteries the state of which however, can be just as well assessed by duplex sonography. Thus, computed tomography is the single most important diagnostic tool in the assessment of aorto-iliac aneurysmal disease especially when associated with ureteric entrapment.

Aged↗
PubMed1992

Sonographic indications for karyotyping procedures. An international questionnaire.

An international survey was conducted to investigate attitudes to karyotyping procedures in cases of fetal anomalies detected by ultrasound. A questionnaire was sent to 111 current members of the International Society of Ultrasound in Obstetrics and Gynecology. The overall response rate was 48%. Analysis of the replies reflects a wide variation in the criteria for the definition of a sonographic abnormality, the indication for a diagnostic procedure, and the timing for intervention. The results emphasize the need for additional data on several sonographic findings (e.g. choroid plexus cysts, renal pyelectasis, short limbs) and for improved selection of patients for chromosomal investigation.

Journal Article↗
PubMed1995

Does gender have an impact on the sonographic detection of second-trimester fetuses with Down's syndrome?

The biometric and structural sonographic features of 95 second-trimester fetuses with Down's syndrome were evaluated to determine whether affected male fetuses differed from affected females. There were 54 male and 41 female fetuses with Down's syndrome studied. A shortened femur was identified in 28/54 (52%) males compared with 19/41 (46%) affected females (NS). A thickened nuchal fold was identified in 19/54 (35%) of males vs. 20/41 (49%) of females. Renal pyelectasis was seen in 7/54 (13%) males and 8/41 (19%) females. A heart defect was seen in 8/54 (15%) males and 7/41 (17%) females. Ventriculomegaly was identified in 6/54 (11%) males and 3/41 (7%) females with Down's syndrome. There were no statistically significant differences in the incidence of the sonographic findings when male and female Down's fetuses were compared. Our data show that the criteria for evaluation of sonographic markers for the identification of second-trimester fetuses with Down's syndrome should be the same in male and female fetuses.

Abnormalities, Multiple↗
PubMed1996

Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy.

Fetal renal size in the first trimester and the early second trimester of pregnancy was evaluated by high-frequency transvaginal sonography in 537 singleton fetuses at risk for cytogenetic abnormality but not at risk for congenital kidney disease. The percentage of visualization of both kidneys and bladder at different menstrual ages (11-16 weeks) is presented, and centile reference charts for evaluating kidney growth have been compiled. All kidney measurements were found to increase as pregnancy progressed. At 13 weeks, fetal kidneys and fetal urinary bladder were visualized in 92% of the cases screened. The incidence of pyelectasis was high in our population (4.5%), and this pathology was studied by other sonographic scans during pregnancy and postnatally. All fetuses had normal karyotypes. The results presented provide a reference for the assessment of normal renal morphology and growth in early pregnancy.

Female↗
PubMed1998

Age-adjusted ultrasound risk assessment for fetal Down's syndrome during the second trimester: description of the method and analysis of 142 cases.

OBJECTIVE: To describe and test a method of individual risk assessment for fetal Down's syndrome based on maternal age and second-trimester ultrasound findings. DESIGN: A case-control study of 142 fetuses with Down's syndrome was compared with 930 control fetuses with normal karyotype. All patients underwent second-trimester ultrasound at a single institution with a standardized ultrasound protocol without knowledge of fetal karyotype. Age-adjusted ultrasound risk assessment (AAURA) for Down's syndrome was performed by multiplying the a priori risk, based on maternal age, with likelihood ratios resulting from the presence or absence of specific ultrasound findings for each patient. Individual ultrasound findings were assigned likelihood ratios (LR) as follows: structural abnormality (LR 25), nuchal thickening (LR 18.6), echogenic bowel (LR 5.5), shortened humerus (LR 2.5), shortened femur (LR 2.2), echogenic intracardiac focus (LR 2), and renal pyelectasis (LR 1.6). A normal ultrasound was assigned a LR of 0.4. RESULTS: One or more ultrasound markers were identified in 68.3% (97) of fetuses with Down's syndrome compared to 12.5% of fetuses with normal karyotype. Among fetuses with positive ultrasound, 31% of those with Down's syndrome and 80% of those with normal karyotype showed a single non-structural finding. Using AAURA and a threshold of 1: 200, 74% (105 of 142) of fetuses with Down's syndrome were identified, including 61.5% (24 of 39) from women aged less than 35 years, 67.2% (45 of 67) from women aged 35-39 years inclusively, and 100% (36 of 36) from women aged 40 years or older. AAURA of 930 fetuses with normal karyotype showed an overall false-positive rate of 14.7%, including 4% (21 of 519) from women aged less than 35 years, 12.5% (42 of 337) from women aged 35-39 years inclusively, and 100% from women aged 40 years or older. CONCLUSIONS: AAURA permits improved individual counselling regarding the risk of fetal Down's syndrome following a second-trimester sonogram. For low-risk women under age 35 years, ultrasound assessment can identify over half of the affected fetuses with Down's syndrome with an acceptable false-positive rate (4%). For women aged 35-39 years, a normal ultrasound can substantially reduce the risk of unnecessary amniocentesis (12.5% from 100%) but will also miss approximately one-third of affected fetuses. Biochemical screening of maternal serum is also suggested for this group. Based on their high a priori risk, women aged 40 years or more should consider genetic amniocentesis regardless of a normal ultrasound.

Adolescent↗
PubMed1999

Early fetal megacystis between 11 and 15 weeks of gestation.

OBJECTIVE: The purpose of this study was to evaluate the prognostic criteria of early fetal megacystis. DESIGN: A prospective, transvaginal ultrasound, cross-sectional study at 11-15 weeks of gestation at a tertiary referral fetal medicine unit. SUBJECTS AND METHODS: Sixteen pregnancies out of a total of 5240 were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were also evaluated. The karyotype was available in 15 cases. Vesicocentesis was performed in six fetuses and three had concomitant cystoscopies. RESULTS: In six fetuses, the megacystis was isolated. In the remaining ten, we detected associated hygroma (n = 5), nuchal translucency (n = 3), omphalocele (n = 1), mild pyelectasis (n = 1) and bilateral talipes (n = 1). In three cases the fetuses demonstrated renal hyperechogenicity with cysts, and in two cases oligohydramnios was found; four cases (25%) had chromosomal abnormalities; 47, XY + 13 (two cases), 47, XY + 18 and 47, XY + 21. Only one fetus from this study survived. In the remaining 13 cases, termination was proposed after counselling of the patients on the poor prognosis. The mean gestational age at termination was 15.5 +/- 2.4 weeks (range 12-20). Three fetal transabdominal cystoscopies did not allow us to view the valves; one urethral atresia was suspected, and confirmed postnatally. CONCLUSIONS: We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.

Abnormalities, Multiple↗
PubMed2000

Trisomy 21: 91% detection rate using second-trimester ultrasound markers.

OBJECTIVES: To examine cardiovascular and non-cardiovascular prenatal ultrasound markers and determine which markers physicians of varying skill levels could use to identify fetuses with trisomy 21. METHODS: Eighty second-trimester fetuses with trisomy 21 and 2000 controls underwent real-time plus color Doppler examination of cardiovascular and non-cardiovascular systems followed by amniocentesis. Non-cardiac markers were central nervous system malformations (CNS); choroid plexus cysts (CPC); abnormal nuchal skin fold (NSF); hyperechoic bowel (HB); and pyelectasis (PY). Cardiac markers consisted of ventricular septal defect, right-to-left chamber disproportion (RL); tricuspid regurgitation; mitral regurgitation (MR); pericardial effusion; and outflow tract abnormalities (OFT). Multinomial logistic regression was used to identify interactivity between the markers. Logistic regression was utilized to identify which combinations of markers significantly contributed to the identification of fetuses with trisomy 21 and to compute the likelihood ratio. RESULTS: All but three markers (CPC, MR, OFT) contributed significantly to the identification of 91% of fetuses with trisomy 21 with a false-positive rate of 14%. When only non-cardiovascular markers were examined, all but CPC contributed to the identification of 60% of fetuses with trisomy 21 with a false-positive rate of 5.9%. Combining right-to-left chamber disproportion with CNS, NSF, HB and PY identified 75% of fetuses with trisomy 21 with a false-positive rate of 6.4%. All markers were independent predictors of trisomy 21 except RL and NSF. CONCLUSION: Ultrasound can detect between 60 and 91% of fetuses with trisomy 21 depending upon which markers are selected for evaluation.

Adult↗
PubMed2000

Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum biochemistry.

OBJECTIVE: To analyze the value of second trimester ultrasound examination among those women whose fetuses were indicated to be at low risk of chromosomal anomalies on the basis of both first trimester nuchal translucency measurement and second trimester biochemical screening. METHODS: A retrospective study of 5500 pregnancies carried out at the fetal medicine unit, Royal Free Hospital. During a period of over 3 years 5500 pregnancies underwent a first trimester scan and nuchal translucency measurement which enabled the detection of 62% (20 of 32) of all chromosomal anomalies. From the remaining pregnancies that underwent second trimester biochemical screening, 3548 were considered negative (risk < 1:250; using maternal serum free beta human chorionic gonadotrophin and alpha fetoprotein). The ultrasound markers that were examined were: shortened femur length, echogenic bowel, pyelectasis, choroid plexus cysts and echogenic intracardiac foci. The likelihood ratios for chromosomal aneuploides for each of these markers were calculated. RESULTS: Of the 3548 screen negative pregnancies, 3541 (99.8%) had a normal karyotype. Seven (0.2%) fetuses had an abnormal karyotype including four (0.11%) with trisomy 21, one with trisomy 18 and two with 47XXY. Second trimester ultrasound markers were found in two of the five (40%) with severe chromosomal anomalies compared to 184 of 3541 (5.2%) with normal karyotypes. Detection of one or more ultrasound markers in a screen negative pregnancy increased the possibility of chromosomal aneuploidy and a negative ultrasound decreased the risk by a likelihood ratio of 0.6 (95% confidence interval, 0.3-1.3). The risk was considerably increased when two or more markers were detected and we would recommend karyotyping under these circumstances. CONCLUSION: This preliminary data indicates a possible role for abnormal ultrasound markers in assessing the risk of chromosomal abnormalities in patients considered to be at low risk by nuchal translucency and serum screening. However analysis of a much larger study group will have to be conducted to assess the significance of individual markers.

Adolescent↗