Isolated left-sided congenital diaphragmatic hernia: cardiac axis and displacement before fetal viability has no role in predicting postnatal outcome.

OBJECTIVES: The purpose of this retrospective study was to determine whether objective assessment of cardiac shifting on two-dimensional ultrasonography can predict postnatal outcome in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). MATERIALS AND METHODS: Still images at the level of the four-chamber view were obtained in 23 fetuses with left-sided CDH. A group of 12 fetuses (3 non-survivors and 9 survivors) were examined at two periods, between 20 and 30 weeks and between 31 and 40 weeks. A further 11 fetuses (2 non-survivors and 9 survivors) were examined between 31 and 40 weeks. Fetal heart axis and position were determined manually and associated with postnatal outcome. RESULTS: The cardiac axis remained constant in the 9 survivors (15.5 +/- 3.2 versus 17.2 +/- 3.3, p = 0.71) and 3 non-survivors (19.0 +/- 11.5 versus 18.5 +/- 11.8, p = 0.97). There was no statistical difference between the 9 survivors and 3 non-survivors at the two periods. Cardiac displacement remained constant in the 9 survivors (0.2 +/- 0.02 versus 0.2 +/- 0.02, p = 0.32) but increased significantly in the 3 non-survivors (0.2 +/- 0.04 versus 0.4 +/- 0.02, p = 0.015). The difference between survivors and non-survivors was statistically significant between the18 survivors and 5 non-survivors examined between 31 and 40 weeks of gestation (0.2 +/- 0.02 versus 0.4 +/- 0.02, p = 0.037). CONCLUSION: This study does not support the hypothesis that objective assessment of mediastinal shift in fetuses with left-sided CDH has a role in predicting postnatal outcome before fetal viability, which is when it would be more useful for counseling patients regarding whether to continue with the pregnancy or to opt for termination.

Fetal MRI demonstrates glioependymal cyst in a case of sonographic unilateral ventriculomegaly.

We report a fetus of 28 weeks' gestation in which ultrasonography demonstrated unilateral ventriculomegaly and microcephaly. Fetal MRI demonstrated a simple, left paramedian occipital cyst with rarefaction of the corpus callosum and thinning of the adjacent cortical mantle. Ischaemia was suggested as the underlying pathogenesis, but autopsy after termination of pregnancy revealed a glioependymal cyst. This case highlights consideration of the rare diagnosis of glioependymal cyst when a cystic lesion associated with cerebral malformations, particularly dysgenesis of the corpus callosum, is demonstrated and fetal MRI suggests an ischaemic origin.

Mid-facial anthropometry in second-trimester fetuses with trisomy 21: a three-dimensional ultrasound study.

OBJECTIVES: The aim of this study was to evaluate whether fetuses with trisomy 21 and detectable nasal bones have a distinct facial anthropometry that can be objectively defined using three-dimensional (3D) ultrasonography. METHODS: A prospective cross-sectional study of 40 fetuses in the second trimester, 17 with trisomy 21 and 23 controls, was performed. The 3D volume datasets of each case were evaluated for documentation of the nasal bones using the multiplanar and the maximum mode. The nasal bone length and the angle formed by the two maxillary bones at the level of the frontal process were then measured. RESULTS: The nasal bones were absent in 7 (41%) of the 17 fetuses with Down syndrome. All of the 23 normal fetuses had detectable nasal bones. The difference between nasal bone length in trisomy 21 fetuses and controls did not reach statistical significance (p = 0.087). The mean maxillary angle in trisomy 21 fetuses with nasal bones was significantly wider compared to controls (p = 0.029). CONCLUSIONS: The nasal bones are present in the majority of fetuses with trisomy 21 in the second trimester. This group of fetuses has a characteristic mid-facial anthropometry (wider maxillary angle) that can be assessed by means of 3D ultrasonography.

Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome.

OBJECTIVE: The right subclavian artery arises normally as the first vessel from the brachiocephalic artery of the aortic arch. An aberrant right subclavian artery arises as a separate vessel from the aortic isthmus and crosses to the right, behind the trachea. This variant is present in <1% of the normal population; however, in subjects with Down syndrome, an incidence between 19% and 36% was reported. The purpose of this study was to assess the possibility of the detection of an aberrant right subclavian artery in fetuses with Down syndrome. STUDY DESIGN: Fourteen consecutive fetuses with prenatally detected Down syndrome were examined between 18 and 33 weeks of gestation. The presence of an aberrant right subclavian artery was determined by visualization of the transverse 3-vessel trachea view of the upper thorax with color Doppler ultrasonography. RESULTS: The right subclavian artery was visualized in 100% of fetuses (14/14) with Down syndrome. An aberrant right subclavian artery was identified in 35.7% of trisomy 21 fetuses (5/14). In 1 fetus, the aberrant right subclavian artery was the only abnormal ultrasound finding. In 3 fetuses, an aberrant right subclavian artery was associated with an intracardiac echogenic focus plus additional extracardiac markers. In the fourth fetus, an aberrant right subclavian artery was associated with an atrioventricular septal defect. All 9 fetuses with Down syndrome with a normal origin of the right subclavian artery had additional cardiac and/or extracardiac abnormalities. In 12 cases, pregnancy was terminated; 2 fetuses were live born. CONCLUSION: This preliminary study suggests that the in utero identification of an aberrant right subclavian artery may be a new ultrasound marker to be found in fetuses with Down syndrome. Further studies are required to assess the incidence of aberrant right subclavian artery in normal fetuses.

Is unexplained third trimester intrauterine death of fetuses with gastroschisis caused by umbilical cord compression due to acute extra-abdominal bowel dilatation?

We report on a case of gastroschisis in which sudden dilatation of extra-abdominal bowel at 34+1 weeks was followed by an unusual umbilical flow velocity waveform (diastolic notching). The condition was associated with normal umbilical Doppler indices, brain sparing effect and a non-reactive cardiotocograph (CTG). Findings at postnatal surgery strongly suggested severe cord compression by the herniated dilated bowel. The significance of notching in the umbilical artery waveform is discussed, as is the potential importance of this sign in the prepartum management of fetuses with gastroschisis.

Does fetal tracheal fluid flow during fetal breathing movements change before the onset of labour?

OBJECTIVE: To examine changes in intra-tracheal fluid flow parameters during fetal breathing movements throughout the second half of pregnancy in the normally developing human fetus. DESIGN: Prospective cross-sectional study. SETTING: Fetal medicine unit at the Charité University Hospital in Berlin. METHODS: Assessment of tracheal fluid flow was attempted in 340 healthy fetuses (GA 20-40 weeks) in which fetal breathing movements were seen by B-mode scan. Colour Doppler was applied to visualise the tracheal fluid flow, followed by spectral Doppler to record the velocity waveforms. The records of 53 fetuses divided into five gestational age groups (20-23, 24-27, 28-31, 32-35 and 36-40 weeks of gestation) containing 40 or more continuous breathing cycles (inspiration and expiration) were considered for analysis. Only regular breathing phases were examined and the volume obtained by integration of the tracheal fluid flow displaced during fetal breathing movements was calculated. RESULTS: The intra-tracheal flow volume moved during inspiration (Vi) and expiration (Ve) increased until 36 weeks of gestation after which there was a flattening until term. This suggests either a reduction of lung liquid production or a diminished lung liquid volume. The median difference between Vi and Ve was positive in the first four age groups and negative in the last one suggesting that, in mature fetuses, the effect of fetal breathing movements no longer results in an influx. CONCLUSIONS: Our data demonstrate a modification in fetal behaviour that manifests itself during the last four weeks before birth and has the potential to reduce lung liquid volume.

Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.

A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed.

Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.

Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chromosome 6. In one fetus, the disorder was diagnosed incidentally by a routine amniocentesis due to advanced maternal age. The other two fetuses were hydrocephalic and had other congenital anomalies. Remarkably, the ring chromosome 6 tends to disappear in cultured amniotic fluid cells; karyotyping revealed complete or nearly complete monosomy 6. In contrast, the ring was preserved in high proportions of fetal leukocytes. Postnatal growth retardation is the only consistent finding of this chromosomal disorder. Maternal age is not significantly above average. An additional review of 20 literature cases revealed a striking tendency to hydrocephalus, either due to deficient brain growth or secondary to an aqueductal stenosis. Children with hydrocephalus and ring chromosme 6 tend to display facial dysmorphism and may have additional malformations, growth failure, eye anomalies, and seizures. In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development. In such patients at the mild end of the clinical spectrum, the phenotype is basically restricted to what Kosztolányi. [1987: Hum Genet 75:174-179] delineated as "ring syndrome," comprising "severe growth failure without major malformations, without a specific deletion syndrome, with only a few or no minor anomalies, and mild to moderate mental retardation." This "ring syndrome" is considered to occur independently of the autosome involved in the ring formation. The overall impression from our cases and from the literature review of cases with ring chromosome 6 is that the karyotype-genotype correlation is poor. This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis.