Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation.

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Abstract

To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21.

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A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A.

N Tul, V Souter, K Nicolaides … (1999)

To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in screening for trisomy 21 at 10-14 weeks of gestation. Maternal serum free beta-hCG and PAPP-A were measured by Kryptor, a random access immunoassay analyzer using time-resolved amplified cryptate emission, in 210 singleton pregnancies with trisomy 21 and 946 chromosomally normal controls, matched for maternal age, gestation and sample storage time. In all cases the fetal crown-rump length and nuchal translucency thickness had been measured by ultrasonography at 10-14 weeks of gestation and maternal blood had been obtained at the time of the scan. The distributions (in multiples of the median; MoM) of free beta-hCG and PAPP-A (corrected for maternal weight) and fetal nuchal translucency (NT) were determined in the trisomy 21 group and the controls. Likelihood ratios for the various marker combinations were calculated and these were used together with the age-related risk for trisomy 21 in the first trimester to calculate the expected detection rate of affected pregnancies, at a fixed false-positive rate, in a population with the maternal age distribution of pregnancies in England and Wales. In a population with the maternal age distribution of pregnancies in England and Wales, it was estimated that, using the combination of maternal age, fetal nuchal translucency thickness and maternal serum free beta-hCG and PAPP-A, the detection of trisomy 21 pregnancies would be 89% at a fixed false-positive rate of 5%. Alternatively, at a fixed detection rate of 70%, the false-positive rate would be 1%. The inclusion of biochemical parameters added an additional 16% to the detection rate obtained using NT and maternal age alone. Rapid diagnostic technology like Kryptor, which can provide automated reproducible biochemical measurements within 30 min of obtaining a blood sample, will allow the development of interdisciplinary one-stop clinics for early fetal assessment. Such clinics will be able to deliver improved screening sensitivity, rapidly and more efficiently, leading to reduced patient anxiety and stress.

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Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy.

Cecilia Nyberg, F Luthhardt, D Luthy … (2001)

To determine whether sonographic "markers" are associated with fetal Down syndrome during the second trimester and to estimate the degree of risk of individual markers using likelihood ratios. Second-trimester (14-20 weeks) sonographic findings in 186 fetuses with trisomy 21 were compared with a control group of 8728 consecutive control fetuses. Six markers were evaluated: nuchal thickening, hyperechoic bowel, shortened femur, shortened humerus, echogenic intracardiac focus, and renal pyelectasis. Major or structural abnormalities were observed in 31 fetuses with trisomy 21 (16.7%) and 53 control fetuses (0.6%) (P< .001). Some type of sonographic finding (major abnormality, minor marker, or both) was observed in 68.8% of fetuses with trisomy 21 compared with 13.6% of control fetuses (P < .001). An isolated minor or "soft" marker was the only sonographic finding in 42 (22.6%) of 186 fetuses with trisomy 21 compared with 987 (11.3%) of 8728 control fetuses (P < .001). Nuchal thickening (P < .001; likelihood ratio, 11) and hyperechoic bowel (P < .001; likelihood ratio, 6.7) showed the strongest association with trisomy 21 as isolated markers, followed by shortened humerus (likelihood ratio, 5.1), echogenic intracardiac focus (likelihood ratio, 1.8), shortened femur (likelihood ratio, 1.5), and pyelectasis (likelihood ratio, 1.5). Echogenic intracardiac focus was the single most common isolated marker in both affected fetuses (7.1%) and control fetuses (3.9%) but carried a low risk (P= .046; likelihood ratio, 1.8). A single soft marker is commonly encountered during the second trimester among fetuses with trisomy 21. The risk of fetal Down syndrome, reflected by likelihood ratios, was determined for 6 individual markers. This information can be combined with the a priori risk to estimate the individual patient risk for fetal Down syndrome.

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One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15 030 pregnancies.

Catherine V Heath, R Bindra, Steven Spencer … (2002)

To evaluate the performance of a one-stop clinic for assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks of gestation. Screening for trisomy 21 was carried out by OSCAR in 15 030 singleton pregnancies with live fetuses at 11-14 weeks. The estimated risk for trisomy 21 was calculated, and the women were counseled regarding this risk and the option of invasive testing or expectant management. Follow-up of the outcome of all pregnancies was carried out. The detection and false-positive rates for different risk cut-offs were calculated. Fetal NT and maternal serum free beta-hCG and PAPP-A were successfully measured in all cases. Pregnancy outcome, including karyotype results or the birth of a phenotypically normal baby, was obtained from 14 383 cases. The median maternal age of these cases was 34 (range 15-49) years and in 6768 (47.1%) the age was 35 years or greater. The median gestation at screening was 12 (range 11-14) weeks and the median fetal crown-rump length was 64 (range 45-84) mm. The estimated risk for trisomy 21 based on maternal age, fetal NT and maternal serum free beta-hCG and PAPP-A was 1 in 300 or greater in 6.8% (967 of 14 240) normal pregnancies, in 91.5% (75 of 82) of those with trisomy 21 and in 88.5% (54 of 61) of those with other chromosomal defects. For a fixed false-positive rate of 5% the respective detection rates of screening for trisomy 21 by maternal age alone, maternal age and serum free beta-hCG and PAPP-A, maternal age and fetal NT, and by maternal age, fetal NT and maternal serum biochemistry were 30.5%, 59.8%, 79.3% and 90.2%, respectively. Screening for trisomy 21 by a combination of maternal age, fetal NT and maternal serum biochemistry at 11-14 weeks can be provided in an OSCAR setting and is associated with a detection rate of about 90% for a false-positive rate of 5%.