Ultrasonography (US) is performed during early pregnancy for dating, determination of the number of fetuses, assessment of early complications, and increasingly for evaluation of the fetus, including measurement of the thickness of the nuchal translucency (NT). Measurement of NT thickness between 11 and 14 weeks gestation, combined with maternal age and maternal serum biochemistry, can be an effective method of screening for trisomy 21 and other chromosomal abnormalities. Furthermore, an increased NT thickness in the presence of a normal karyotype is associated with an increased frequency of structural defects and genetic syndromes. Therefore, this finding is an indication for a more detailed anatomic survey of the fetus. Besides nuchal abnormalities, a wide range of other congenital anomalies can be diagnosed with US at 11-14 weeks gestation, including defects of the central nervous system, heart, anterior abdominal wall, urinary tract, and skeleton. The anatomic survey can be performed with a standardized protocol by using transabdominal US and, when necessary, transvaginal US. A thorough knowledge of the US features of normal fetal development is necessary to avoid potential diagnostic pitfalls.
Congenital
CASE REPORTS Case 1A 35-year-old healthy multiparous woman was referred at 16 weeks' gestation for assessment of fetal pericardial effusion. An ultrasound scan at 7 weeks demonstrated that gestation was consistent with the patient's dates. A further ultrasound scan at 13 weeks revealed a nuchal translucency (NT) of 4.2 mm and a pericardial effusion. This prompted an amniocentesis, which revealed a normal male karyotype (46,XY). At 16 weeks' gestation a large pericardial effusion was noted with a right-sided cardiac diverticulum measuring 4 × 6 mm. Color Doppler imaging demonstrated blood flow within the diverticulum (Figure 1). Both lungs were compressed into a posterior position in the fetal thorax. Nuchal fold measurement was normal at 2.5 mm. There was no evidence of other structural fetal anomalies, hydrops, or structural or functional cardiac defects.The patient was counseled that the presence of a significant pericardial effusion over the previous 3 weeks could result in pulmonary hypoplasia and progressive hydrops. She opted for pericardiocentesis, which was performed at 16 weeks' gestation, and 3 mL of bloodstained serous fluid was aspirated. Immediately the lungs re-expanded. Pericardial fluid, amniotic fluid and maternal serum were referred for viral studies which were subsequently negative for TORCH, parvovirus B19, echovirus and adenovirus. Cytology of the pericardial fluid identified lymphocytes and mesothelial cells. The protein content of the pericardial fluid was 18 g/L, consistent with a transudate. The pericardial effusion did not return following pericardiocentesis. The right ventricular diverticulum was visible on ultrasound at 19 and at 33 weeks, measuring 4 × 7 mm at the apex of the right ventricle (Figure 2). However, at 37 weeks' gestation the cardiac diverticulum was no longer visible.At 38 weeks' gestation the patient delivered a live male infant in good condition weighing 3040 g. A neonatal echocardiogram revealed branch pulmonary arteries of 3.6 mm in diameter, which is low normal for age. There was no evidence of either a right ventricular diverticulum
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