Femur and humerus length in trisomy 21 fetuses at 11-14 weeks of gestation.

OBJECTIVE: To determine the value of measuring fetal femur and humerus length at 11-14 weeks of gestation in screening for chromosomal defects. METHODS: Femur and humerus lengths were measured using transabdominal ultrasound in 1018 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. In the group of chromosomally normal fetuses, regression analysis was used to determine the association between long bone length and crown-rump length (CRL). Femur and humerus lengths in fetuses with trisomy 21 were compared with those of normal fetuses. RESULTS: The median gestation was 12 (range, 11-14) weeks. The karyotype was normal in 920 fetuses and abnormal in 98, including 65 cases of trisomy 21. In the chromosomally normal group the fetal femur and humerus lengths increased significantly with CRL (femur length = - 6.330 + 0.215 x CRL in mm, r = 0.874, P < 0.0001; humerus length = - 6.240 + 0.220 x CRL in mm, r = 0.871, P < 0.0001). In the Bland-Altman plot the mean difference between paired measurements of femur length was 0.21 mm (95% limits of agreement - 0.52 to 0.48 mm) and of humerus length was 0.23 mm (95% limits of agreement - 0.57 to 0.55 mm). In the trisomy 21 fetuses the median femur and humerus lengths were significantly below the appropriate normal mean for CRL by 0.4 and 0.3 mm, respectively (P = 0.002), but they were below the respective 5th centile of the normal range in only six (9.2%) and three (4.6%) of the cases, respectively. CONCLUSION: At 11-14 weeks of gestation the femur and humerus lengths in trisomy 21 fetuses are significantly reduced but the degree of deviation from normal is too small for these measurements to be useful in screening for trisomy 21.

Single umbilical artery at 11-14 weeks' gestation: relation to chromosomal defects.

OBJECTIVE: To determine the possible association between single umbilical artery (SUA) at 11-14 weeks of gestation and the incidence of chromosomal abnormalities. METHODS: Color flow imaging of the fetal pelvis was used to determine the number of umbilical arteries in 717 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks' gestation. RESULTS: Single umbilical artery (SUA) was diagnosed in 21/634 (3.3%) chromosomally normal fetuses, in 5/44 (11.4%) with trisomy 21, 14/18 (77.8%) with trisomy 18 and 2/21 (9.5%) with other chromosomal defects. In the chromosomally normal group there was no significant difference in median fetal crown-rump length or nuchal translucency (NT) between those with a single and those with two umbilical arteries. In the 42 fetuses with SUA the expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 4.7, which was not significantly different from the observed 5. The corresponding numbers for trisomy 18 were 2.0 for expected and 14 for observed (Fisher's exact test P = 0.0016). CONCLUSION: A SUA at 11-14 weeks' gestation has a high association with trisomy 18 and other chromosomal defects.

Ear length in trisomy 21 fetuses at 11-14 weeks of gestation.

OBJECTIVE: To determine the value of measuring fetal ear length at 11-14 weeks of gestation in screening for chromosomal defects. METHODS: The fetal ear length was measured in 450 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. RESULTS: The median gestational age was 12 (range, 11-14) weeks. The fetal ear was successfully examined in all cases. The fetal karyotype was normal in 409 cases and abnormal in 41, including 32 cases of trisomy 21. In the chromosomally normal group the fetal ear length increased significantly with crown-rump length from a mean of 3.7 mm at 45 mm to 6.9 mm at 84 mm. In the trisomy 21 fetuses the median ear length was significantly below the normal mean for crown-rump length by 0.45 mm (P = 0.013) but it was below the 5(th) centile of the normal range in only two (6.3%) of the cases. There was no significant association between the delta score of ear length and delta nuchal translucency in either the chromosomally normal (r = - 0.015, P = 0.753) or the trisomy 21 fetuses (r = - 0.014, P = 0.94). CONCLUSIONS: At 11-14 weeks of gestation the ear length in trisomy 21 fetuses is significantly reduced but the degree of deviation from normal is too small for this measurement to be useful in screening for trisomy 21.

Sonographic markers of fetal aneuploidy--a review.

The most effective sonographic marker of trisomy 21 and other chromosomal defects is increased nuchal translucency (NT) thickness at 11-14 weeks. Extensive studies over the last decade have examined the methodology of measuring NT, the development of the necessary algorithms for calculating the individual patient risk for trisomy 21 by NT in combination with maternal age and with various maternal serum biochemical markers, and the performance of this test. Another promising marker for trisomy 21, both in the first and second trimesters, is absence of the fetal nasal bone. There is also an extensive literature on the association between chromosomal abnormalities and a wide range of second trimester ultrasound findings. However, there are very few reports that have prospectively examined the screening performance of second trimester markers. This article reviews the association between sonographically detectable fetal abnormalities and chromosomal defects, and examines the value of incorporating these defects in screening policies.

Absent nasal bone at 11-14 weeks of gestation and chromosomal defects.

OBJECTIVE: To examine the association between absence of the nasal bone at the 11-14-week ultrasound scan and chromosomal defects. METHODS: Ultrasound examination was carried out in 3829 fetuses at 11-14 weeks' gestation immediately before fetal karyotyping. At the scan the fetal crown-rump length (CRL) and nuchal translucency (NT) thickness were measured and the fetal profile was examined for the presence or absence of the nasal bone. Maternal characteristics including ethnic origin were also recorded. RESULTS: The fetal profile was successfully examined in 3788 (98.9%) cases. In 3358/3788 cases the fetal karyotype was normal and in 430 it was abnormal. In the chromosomally normal group the incidence of absent nasal bone was related firstly to the ethnic origin of the mother (2.8% for Caucasians, 10.4% for Afro-Caribbeans and 6.8% for Asians), secondly to fetal CRL (4.6% for CRL of 45-54 mm, 3.9% for CRL of 55-64 mm, 1.5% for CRL of 65-74 mm and 1.0% for CRL of 75-84 mm) and thirdly, to NT thickness, (1.8% for NT < 2.5 mm, 3.4% for NT 2.5-3.4 mm, 5.0% for NT 3.5-4.4 mm and 11.8% for NT > or = 4.5 mm. In the chromosomally abnormal group the nasal bone was absent in 161/242 (66.9%) with trisomy 21, in 48/84 (57.1%) with trisomy 18, in 7/22 (31.8%) with trisomy 13, in 3/34 (8.8%) with Turner syndrome and in 4/48 (8.3%) with other defects. CONCLUSION: At the 11-14-week scan the incidence of absent nasal bone is related to the presence or absence of chromosomal defects, CRL, NT thickness and ethnic origin.

Ultrasound dating-curve analysis in the assessment of gestational age.

The accurate assessment of gestational age is very important in everyday practice. By the use of multiple regression analysis, in a longitudinal study, ultrasound dating-curves were calculated for the crown-rump length, biparietal diameter, femur length, humerus length, binocular distance and transverse cerebellar diameter. All the examined parameters showed a good statistical correlation with gestational age; however, the earlier the estimation of the gestational age, the more accurate it is. The crown-rump length has been shown as the best parameter during the first trimester. Later on, the other biometric parameters become easier and more reliable. If determination of gestational age is required during the third trimester, the use of multiple parameters is recommended.

Color Doppler ultrasound in prenatal diagnosis of umbilical cord angiomyxoma. Case report.

A pregnant woman, at 28 weeks' gestation, has been observed ultrasonographically. A complex mass arising from the umbilical cord was detected. Color Doppler imaging demonstrated the vascular nature of the mass and the strictly connection with the three umbilical vessels. Color Doppler ultrasound provides useful informations for a correct assessment of the masses arising from the umbilical cord.