A case of prenatally diagnosed extrapulmonary arteriovenous malformation associated with a complex heart defect

Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21.0 weeks of gestation and confirmed by postmortem autopsy.

Impaction of an intrathoracic kidney acted as a shield against herniation of the abdominal viscera in a case of right congenital diaphragmatic hernia

We describe a case of an intrathoracic kidney combined with right congenital diaphragmatic hernia (CDH) that was diagnosed at 32 weeks of gestation. Although it has been well established that a right CDH shows a poorer outcome than a left CDH, our present case showed a good outcome because there was no herniation of other abdominal viscera, except for the right kidney. Our findings in this case indicate that impaction of the intrathoracic kidney may act as a 'shield' against further herniation of other abdominal viscera into the thoracic cavity.

Screening ultrasonography in pregnancy

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester, it is important to confirm normal intrauterine pregnancy with viability, detect the abnormalities of uterus and adnexa, determine the number of fetuses and assess chorionicity and amnionicity in case of multiple pregnancy. After establishment of gestational age accurately by crown-rump length, thickened fetal nuchal translucency, absence of nasal bone, tricuspid regurgitation, reverse a wave of ductus venosus and cystic hygroma can be markers for screening of chromosomal abnormalities. In addition, the scan also offers an opportunity to detect gross structural abnormalities, which could help improve the prognosis by early prenatal intervention. In the second trimester, aneuploidy (trisomy 21, 18, 13, Turner syndrome) and genetic syndromes could be detected by major structural defects and soft markers. It is important to consider that many malformations may not be detected prenatally even by qualified practitioners and appropriate equipment, and to counsel patients about the potential for false-positive or false-negative results.