Fetal intra-abdominal umbilical vein varix: what is the clinical significance?

OBJECTIVE: To assess the clinical significance of fetal intra-abdominal umbilical vein (FIUV) varix. METHODS: We reviewed all cases of FIUV varix diagnosed in a university hospital from 1994 to 2003 and searched the English literature for cases of prenatal diagnosis of FIUV varix. The FIUV was considered dilated when the measurements were above 2 SD of the mean for gestational age. Cases reported in the literature were included if they met the diagnostic criteria for FIUV varix. RESULTS: Between 1994 and 2003, 13 fetuses were diagnosed in our hospital as having FIUV varix. Review of the literature revealed an additional 80 cases. Fetal outcome was available for analysis in 91 cases. Additional sonographic abnormalities were detected prenatally in 29 cases (31.9%), most commonly anomalies of the cardiovascular system (including structural and functional abnormalities), hydropic features and anemia. There were nine (9.9%) cases of chromosomal abnormalities. All except one had associated sonographic abnormalities. There were 12 (13%) perinatal losses. Only 54 cases (59.3%) of fetuses with FIUV varix had a normal obstetric outcome. In the 62 cases with isolated FIUV varix, there were five unexplained intrauterine deaths (8.1%) occurring between 29 and 38 weeks of gestation. The incidence of complications, which included intrauterine death, thrombosis of the umbilical vein and abnormal antenatal cardiotocogram, were significantly higher (P = 0.01, Fisher's exact test) if the diagnosis of FIUV varix was made before 26 weeks. CONCLUSIONS: FIUV varix is associated with a high incidence of fetal anomalies and obstetric complications. Detailed sonography is necessary to exclude fetal anomalies. Karyotyping should be offered when additional fetal abnormalities are detected. Intensive surveillance including color Doppler ultrasound should be started from the moment of diagnosis until delivery, especially in those cases presenting early in pregnancy.     

Isolated Fetal Intra‐Abdominal Umbilical Vein Varix

This series describes a single center's experience in follow‐up and management of fetuses with an isolated fetal intra‐abdominal umbilical vein varix. All cases with a fetal intra‐abdominal umbilical vein varix that were diagnosed or referred to our medical center over 15 years were followed and managed. The definition of a fetal intra‐abdominal umbilical vein varix used was a segment dilated to 9 mm or greater or at least 50% wider than the diameter of the adjacent umbilical vein. Over the 15‐year period, our center had approximately 65,000 births with 28 cases of isolated fetal intra‐abdominal umbilical vein varices: a prevalence rate of 1 case per 2300 births. Three of the 28 cases (10.7%) had intrauterine growth restriction. Five of 30 fetuses (17%) showed turbulent flow in the varix. We had no cases of intrauterine fetal death, and 27 of the 28 neonates had good outcomes. In contrary to earlier reports, we found that when a fetal intra‐abdominal umbilical vein varix is isolated, a good fetal outcome is expected. On the basis of our experience, we have changed our policy and do not recommend inducing preterm labor. Nevertheless, close fetal surveillance until delivery is warranted.     

Ultrasonographic Evidence of Intra-Abdominal Umbilical Vein Dilatation: Is It a True Varix?

Fetal intraabdominal umbilical vein (FIUV) dilatation, or varix, is a rare ultrasonographic (US) finding of focal dilatation of the umbilical vein. This article describes FIUV tortuosity in cases with suspected varix and provides ultrasonographic criteria for its diagnosis. Cases of suspected FIUV varix referred to our unit for final diagnosis and follow-up were studied. Each woman underwent comprehensive US evaluations that included basic grayscale scan and color Doppler scan. In 12 singleton pregnancies, primary grayscale scan confirmed FIUV dilatation. Supplementary color Doppler scans, however, revealed linear bidirectional blood flow and FIUV tortuosity in all cases. Color Doppler scans did not depict true FIUV dilatations or varix but rather a tortuous course of the vein. A normal pregnancy outcome can be expected in these cases.     

Umbilical cord diameter at 11-14 weeks of gestation: relation to chromosomal defects.

OBJECTIVE: To determine the potential value of measuring umbilical cord diameter (UCD) at 11-14 weeks of gestation in screening for chromosomal defects. METHODS: The UCD was measured in 1323 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 UCD and crown-rump length (CRL). UCD was compared in normal fetuses and those with chromosomal abnormalities. RESULTS: The median gestation was 12 (range, 11-14) weeks. The UCD was successfully measured in all cases. The fetal karyotype was normal in 1150 pregnancies and abnormal in 173, including 97 cases of trisomy 21. In the chromosomally normal group the UCD increased significantly with CRL from a mean of 2.9 mm at a CRL of 45 mm to 4.4 mm at a CRL of 84 mm. The UCD in the group of fetuses with trisomy 21 was significantly smaller than normal. Conversely, there were no significant differences from normal in the UCD of fetuses with other chromosomal abnormalities. CONCLUSION: At 11-14 weeks of gestation the UCD of fetuses with trisomy 21 is significantly smaller than normal but the magnitude of the difference is too small for useful inclusion of this measurement in screening.     

Fetal transverse cerebellar diameter measurements in normal and reduced fetal growth.

OBJECTIVES: To establish the increase in fetal transverse cerebellar diameter (TCD) relative to gestational age during normal and restricted fetal growth; to determine the significance of TCD and TCD/AC relationship in predicting fetal outcome as expressed by perinatal mortality. DESIGN: A retrospective cross-sectional study. SUBJECTS: Three hundred and sixty normally developing fetuses between 17 and 34 weeks of gestation and 73 growth-restricted fetuses between 24 and 34 weeks of gestation. METHODS: Ultrasonographic measurements included head circumference (mm), abdominal circumference (mm) and transverse cerebellar diameter (mm). A gestational age-related normal reference chart was produced for TCD. RESULTS: Statistically significant relationships between transverse cerebellar diameter and gestational age, abdominal circumference and head circumference were found. The normal fetal TCD exhibited a more than twofold increase in size during the second half of pregnancy. Twenty-six per cent of the small-for-gestational age (SGA) fetuses displayed a reduced TCD and 82% of the SGA fetuses demonstrated raised TCD/AC values. No statistically significant difference in perinatal mortality or birth weight was found between the subsets of growth-restricted fetuses with reduced or normal TCD; or between the subsets with normal or raised TCD/AC values. CONCLUSIONS: In the normally developing fetus the TCD increases with advancing gestational age. Increased TCD/AC values are suspicious of fetal growth restriction. The perinatal mortality in growth-restricted fetuses with a small cerebellum is increased twofold over that of other fetuses.     

Brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks.

OBJECTIVE: To investigate the incidence of brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. METHODS: A three-dimensional (3D) volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median, 12 + 5) weeks of gestation in 100 fetuses that were subsequently found to have trisomy 21 and in 300 fetuses subsequently found to be chromosomally normal. The multiplanar mode was used to obtain a sequence of transverse views of the fetal head and to demonstrate the biparietal and suboccipitobregmatic views. We measured the biparietal diameter (BPD), the occipitofrontal diameter (OFD) and the frontothalamic distance (FTD) between the inner table of the frontal bone and the posterior thalami. RESULTS: In the chromosomally normal group the BPD, OFD and FTD increased linearly with crown-rump length (CRL) from 16.7 mm, 19.0 mm and 12.1 mm at a CRL of 45 mm to 26.7 mm, 31.7 mm and 18.7 mm, respectively, at a CRL of 84 mm. In the trisomy 21 fetuses, compared to normal fetuses, there was shorter BPD (mean difference = -0.63 mm; 95% CI, -0.97 to -0.30 mm, P < 0.0001), OFD (mean difference = -1.41 mm; 95% CI, -1.75 to -1.07 mm, P < 0.0001) and FTD (mean difference = -0.77 mm; 95% CI, -1.02 to -0.54 mm; P < 0.0001) and higher BPD to OFD ratio (mean difference = 0.022; 95% CI, 0.012 to 0.032, P < 0.0001) but no significant difference in the FTD to OFD ratio (mean difference = 0.004; 95% CI, -0.006 to 0.013, P = 0.448). CONCLUSIONS: In fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation there is evidence of brachycephaIy but not of frontal lobe hypoplasia.     

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.     

Ultrasound evaluation of the normal fetal upper airway and esophagus

Because congenital anomalies of the fetal neck may alter the normal anatomy of the upper airway, a prospective evaluation of the fetal trachea, hypopharynx, and esophagus was undertaken in 50 consecutive fetuses of 18 to 38 menstrual weeks. The cervical trachea was visualized in 47 of 50 fetuses (94 per cent) and had an average internal diameter of 2.6 mm with a range of 2 to 4 mm. The average diameter of the hypopharynx was 5.5 mm on parasagittal section (range 4-8 mm) and 7.1 mm when imaged in the coronal plane (range 4-10 mm). The configuration of the fetal hypopharynx and larynx varied with fetal respiration and swallowing in a characteristic manner. In no case was a persistent fluid collection observed in the region of the cervical esophagus, suggesting that the fetal esophagus is collapsed in the resting state.     

Fetal bowel. Normal sonographic findings

The normal sonographic appearance of fetal colon and small bowel is reported in a prospective study of 130 fetuses. The colon, which appeared as a continuous tubular structure located around the perimeter of the abdominal cavity, was seen in some fetuses as early as 22 menstrual weeks and in all fetuses examined after 28 weeks. Colon diameter demonstrated a linear relation (r = 0.82) with menstrual age, reaching a maximum of 18 mm at term. In comparison, small bowel was located centrally and individual segments never exceeded 7 mm in diameter or 15 mm in length. Small bowel loops were seen in only 30% of fetuses examined after 34 weeks. Peristalsis was routinely demonstrated of the small bowel, but was not observed in the colon.     

Fetal prognosis in varix of the intrafetal umbilical vein.

To assess the clinical significance of varix of the intraabdominal portion of the umbilical vein, we reviewed 10 cases diagnosed prenatally by ultrasonography at a median gestational age of 27 weeks. A comprehensive anatomic survey and serial follow-up scans were performed in each case. All three fetuses with associated anomalies died in utero, and prenatal karyotyping revealed that two of them had a chromosomal abnormality. In six of the seven cases with structurally normal fetuses the pregnancy proceeded uneventfully, and no neonatal complications were attributed to the umbilical vein varix. Our experience and the review of the literature revealed 42 cases with information on fetal outcome. Overall, 24% of the fetuses died, 12% had a chromosomal abnormality, and 5% developed hydrops. We conclude that fetuses with varix of the intrafetal umbilical vein should be considered at risk for poor outcome. However, if no other anomalies are present, the prognosis is generally good.     

Fetal body ratios in second trimester: a useful tool for identifying chromosomal abnormalities?

This study was carried out to determine if second trimester fetal body ratios are useful in detecting chromosomally abnormal fetuses. As a reference population, normative data for five fetal body ratios (femur length/biparietal diameter, biparietal diameter/fetal length, femur length/head circumference, head circumference/abdominal circumference, and femur length/abdominal circumference) were derived using regression analysis from a population of chromosomally normal fetuses (n = 1770) who underwent genetic amniocentesis at our institution between 14 and 21 menstrual weeks. During the same time period, 37 chromosomally abnormal fetuses were identified by amniocentesis. In comparing the two groups using the 10th and 90th percentiles as cutoffs between normal and abnormal, approximately 25% of chromosomally abnormal fetuses were identified, whereas approximately 20% of the normal fetuses were incorrectly classified as abnormal. Moreover, the use of 1.5 standard deviations above the mean for BPD/FL identified only 19% of Down syndrome fetuses. Our data, and those from a comprehensive review of the literature, suggest that the sensitivity of these ratios in detecting chromosomally abnormal fetuses is too low to recommend them for routine screening.     

胎儿超声心动图检查定量11~17周正常胎儿主动脉和肺动脉内径Z-评分的初步研究

目的探讨早孕期（11^＋0周~13^＋6周）和中孕早期（14^＋0周~17^＋6周）胎儿主动脉内径（AO）与肺动脉内径（PA）与胎儿生物学生长参数的相关性,初步建立早孕期和中孕早期胎儿AO与PA的正常参考值范围及Z-评分方程,并评价方程的有效性。 方法随机选取孕周（GA）为（11^＋0周~17^＋6周）正常单胎胎儿270例,将成功显示左、右心室流出道切面的245例胎儿纳入研究,获得胎儿顶臀径（CRL）、双顶径（BPD）、股骨长径（FL）、孕周（GA）等生物学生长参数。在胎儿左、右心室流出道切面测量收缩末期AO及PA,以GA、BPD和FL作为独立自变量,AO及PA作为因变量,建立AO、PA的正常参考值范围,并对每个参数的绝对残差（SD）进行加权回归,建立Z-评分方程。 结果采用简单的线性回归模型,可以很好地描述AO和PA与非心脏生物特征参数（BPD、FL、GA）的关系。AO、PA与GA、BPD、FL均呈显著线性相关（GA与AO：r=0.9276,GA与PA：r=0.9271,BPD与AO：r=0.9551,BPD与PA：r=0.9558,FL与AO：r=0.9462,FL与PA：r=0.9483,均<0.001）,其中与BPD的相关性最强。 结论正常早孕期及中孕早期胎儿的AO、PA随着孕周的增加而增长,本研究初步建立了正常胎儿早孕期及中孕早期AO、PA的参考范围及其Z-评分方程。为早孕期及中孕早期评估胎儿大血管生长提供精确的参考标准,在早期筛查或诊断胎儿先天性心脏畸形方面具有潜在的应用价值。     

Two-dimensional and M-mode echocardiography of the fetal coronary sinus.

OBJECTIVE: To document fetal coronary sinus dimensions in normal pregnancy. METHODS: Two hundred and sixty-five normal fetuses in which congenital cardiac defects had been excluded were examined cross-sectionally between 21 and 38 weeks of gestation. From the apical or basal four-chamber view the transducer was tilted towards the inferior cardiac surface in order to visualize the coronary sinus by real-time ultrasound. Maximum systolic and diastolic diameters were measured using M-mode. Reference ranges were constructed and the ratio of systolic and diastolic diameters calculated. Data from two fetuses, one with supraventricular tachycardia and a second one with hydrops secondary to anemia, were also compared. RESULTS: Visualization and measurement of the coronary sinus were successful in 258 (97.4%) patients. The coronary sinus systolic and diastolic diameters increased significantly with gestational age (maximum systolic diameter, 1.6 mm at 21 weeks to 4 mm at 38 weeks; maximum diastolic diameter, 0.9 mm at 20 weeks to 2.2 mm at 38 weeks). The ratio of systolic to diastolic diameters remained relatively constant (range, 1.7-2.1) and therefore was unrelated to gestational age. In the fetuses with supraventricular tachycardia and hydrops, both diameters of the coronary sinus were increased and diminished fluctuation in size during the cardiac cycle was observed. CONCLUSIONS: The described sonographic approach provides an effective method for measurement of coronary sinus dimensions. The normative data may facilitate the detection of coronary sinus dilation as an indirect marker for abnormalities in venous return to the heart.     

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.     

Clinical significance of first trimester umbilical cord cysts.

A cystic mass of the umbilical cord was identified by transvaginal sonography in 10 first trimester pregnancies at a mean gestational age of 8 weeks 4 days (range, 8 weeks 1 day to 9 weeks 3 days) and at a mean crown-rump length of 20.5 mm (range, 15 to 25 mm). The cyst was solitary in all cases, the mean diameter was 4.6 mm (range, 3 to 6 mm), and the location was closer to the fetal insertion in two cases, in the middle of the cord in seven cases, and closer to the placental insertion in one case. Gestational sac and yolk sac diameters as well as the fetal heart rate were within normal ranges for gestational age in all cases. Information on detailed second trimester scans was available in nine cases, demonstrating complete resolution of the cyst and normal fetal anatomic survey in each case. These nine pregnancies were followed to delivery, and normal healthy infants were delivered at term in all cases. This series suggests that the incidental detection of umbilical cord cysts in early pregnancy is not associated with an adverse pregnancy outcome.     

First-trimester umbilical cord diameter: a novel marker of fetal aneuploidy.

OBJECTIVE: To compare the umbilical cord diameter at 10-14 weeks of gestation of chromosomally normal and abnormal fetuses. METHODS: In a consecutive series of women, who were undergoing routine sonographic evaluation at 10-14 weeks of gestation, umbilical cord diameter and nuchal translucency were measured. Reference ranges for umbilical cord diameter according to gestational age and crown-rump length were constructed. Fetal karyotype was obtained at chorionic villus sampling, amniocentesis or at delivery in newborns with features suspicious for chromosomal abnormalities. RESULTS: During the study period, 784 patients met the inclusion criteria. Of these, a fetal or placental chromosomal abnormality was present in 17 cases. The mean umbilical cord diameter increased with gestational age (r = 0.41, P < 0.001).The proportion of fetuses with an umbilical cord diameter above the 95th centile was higher in the presence of fetal or placental chromosomal abnormalities than in normal fetuses (5/17 vs. 39/767, P < 0.01). Among fetuses with an abnormal fetal or placental karyotype, nuchal translucency was above the 95th centile for gestational age in 10 cases.When only fetal chromosomal abnormalities were considered (n = 14), the combined detection rate was 85.7%(12/14). CONCLUSIONS: Sonographic assessment of the umbilical cord in early gestation appears to identify a subset of fetuses at increased risk of chromosomal abnormalities.     

Ultrasonographic measurement of fetal nasal bone in a low-risk population at 19-22 gestational weeks.

OBJECTIVE: To determine the potential value of sonographic measurement of fetal nasal bone at 19-22 weeks' gestation in screening for trisomy 21 in a low-risk population. METHODS: The fetal nasal bone was measured in a mid-sagittal view in 2035 fetuses at 19-22 weeks' gestation. A reference range was constructed and the measurements in fetuses with trisomy 21 were compared to the normal group. RESULTS: The fetal profile was successfully examined in 1913/2035 (94%) fetuses. The mean nasal bone length increased linearly with gestation from 6.2 mm at 19 weeks to 6.8 mm at 22 weeks. Nasal bone hypoplasia, defined by absence of the bone or a measurement below the 2.5th centile, was observed in 34/1899 (1.8%) chromosomally normal fetuses (1.8%), in 5/5 fetuses with trisomy 21 and in 0/9 fetuses with other chromosomal defects. CONCLUSION: At 19-22 weeks' gestation, nasal bone hypoplasia is observed in a high proportion of trisomy 21 fetuses and in less than 2% of chromosomally normal fetuses.     

Minimal fetal renal pyelectasis

To assess the possible relationship between the degree of maternal hydration and the sonographic identification of minimal fetal renal pyelectasis, a prospective study was performed in which fetuses demonstrating mild dilation of the renal pelvis (maximum diameter ranging from 3 to 11 mm) were reexamined after the mothers refrained from oral intake for 12 hours. Complete or almost complete resolution of the pyelectasis occurred in only four of 17 kidneys (23.5 per cent) while the remaining fetal kidneys demonstrated little or no change in the degree of pyelectasis following maternal dehydration. This observation, as well as previous experimental research, suggests that the state of maternal oral hydration is not a major cause of minimal fetal pyelectasis. Additionally, the observation of fetal pyelectasis measuring at least 3 mm in greatest dimension is common, occurring in approximately 18 per cent of fetuses older than 24 menstrual weeks.     

Three-dimensional evaluation of mid-facial hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation.

OBJECTIVE: To investigate the mid-facial hypoplasia of fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation, by three-dimensional (3D) evaluation of the maxilla and the nasal bones. METHODS: A 3D volume of the fetal head was obtained before fetal karyotyping at 11 + 0 to 13 + 6 (median 12) weeks of gestation in 80 fetuses that were subsequently found to have trisomy 21 and in 862 fetuses subsequently found to be chromosomally normal. The multiplanar mode was used to obtain a sequence of transverse views of the fetal face and to demonstrate the maxilla, the adjacent rami of the mandible and the nasal bones. The maxillary depth, defined as the distance between the alveolus of the maxilla in the midline anteriorly and the midpoint of the line joining the rami posteriorly, was measured. Ossification of the nasal bones was considered to be normal if both bones were more echogenic than the overlying skin. RESULTS: In the chromosomally normal group the maxillary depth increased linearly with crown-rump length (CRL) from 3.1 mm at a CRL of 45 mm to 4.8 mm at a CRL of 84 mm, and in the trisomy 21 fetuses the depth was significantly smaller than normal (mean difference = - 0.3 mm, P < 0.001). There was no significant association between the delta maxillary depth and delta nuchal translucency thickness in either the trisomy 21 or the chromosomally normal fetuses. Impaired ossification of the nasal bones was observed in 3.1% of the chromosomally normal fetuses and in 60.0% of those with trisomy 21. The mean maxillary depth was significantly smaller in fetuses demonstrating impaired ossification than in those with normal ossification of the nasal bones (mean difference = -0.2 mm; 95% CI, -0.3 to -0.1, P = 0.001). CONCLUSIONS: In a high proportion of fetuses with trisomy 21 there is sonographic evidence of mid-facial hypoplasia at 11 + 0 to 13 + 6 weeks of gestation.     

Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length.

AIMS: To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation. METHODS: At the 10-14-week scan fetal megacystis was defined by a longitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. RESULTS: Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. In the group with longitudinal bladder diameter of 7-15 mm the incidence of chromosomal defects was 23.6% (26/110), whereas in those with bladder diameter > 15 mm the incidence was 11.4% (4/35). The fetal nuchal translucency (NT) was above the 95th centile of the normal range for crown-rump length in a higher proportion of cases with abnormal rather than normal karyotype (76.7% compared to 31.3%; Chi-square P < 0.0001). The expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 6.2 rather than the observed 2 and the corresponding numbers for trisomies 13 or 18 were 4.2 for expected and 24 for observed. In the chromosomally normal group with longitudinal bladder diameter of 7-15 mm follow-up scans demonstrated spontaneous resolution of the megacystis in 90% of the cases and enlargement of the megacystis and/or the development of echogenic kidneys in 10%. In contrast, none of the cases with bladder diameter > 15 mm demonstrated spontaneous resolution of the megacystis. CONCLUSIONS: In fetal megacystis with longitudinal bladder diameter of 7-15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. If the bladder diameter is > 15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy.