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Objectives: The aim of this study is to asses the feasibility of 3D ultrasound for fetal evaluation at 20–22 weeks. Methods: A cross-sectional study was designed in order to evaluate the correlation between 2D standard ultrasound and 3D multiplanar mode by means of a General Electric Voluson 730 Expert. 35 women were scanned at 20–22 weeks of gestation. A standard anatomical ultrasound was performed in each pacient. Also six volumes of each fetus were obtained (axial head, coronal face, chest, abdominal, upper extremities and lower extremities). Observer A analysed off line the 18 cases obtained by observer B, using 4D view program. Reversaly, observer B analysed the volumes obtained by observer A in 17 pacients. A third observer C also analysed the volumes obteined by A and B in order to evaluate the interobserver reproducibility in a second step. A check list of landmarks (31)was used to study the complete fetal anatomy in both ultrasound methods. For measurements, the intraclass correlation coefficient was calculated between both techniques. Results: While with 2D standard ultrasound 99% of landmarks were identified, it was 94% with 3D off line examination. Grouping by view regions : head and face 97%, 94% respectively; heart : fourchamber 100%, three vassels and trachea wiew 97%, outflow tracts 74%; abdominal structures 100% unless both kidneys 89%; both arms 89%, both hands 57%, both legs 97% and both feet 80%. Spine was completly seen in 85%. One choroid plexus cyst was seen in 2D/3D, one foot with equinovarus position was not satisfactory visualized using 3D and it was two cases of sex error. Intraclass correlation coefficient was almost perfect for biparietal diameter, cephalic circunference and femoral length, and very good for abdominal circunference. Conclusions: 3D ultrasound seems to allow a good anatomical assesment and yield reliable mesurements at 20–22 weeks of gestation. Hands, cardiac outflow tracts and feet are, by now, structures poorly assesed by 3D standard multiplanar mode

Graves’disease is the most common cause of hyperthyroidism in pregnancy and may cause fetal and neonatal thyroid dysfunction. A case of maternal Graves’disease treated with propylthiouracil (PTU) is presented and prenatal detection and management of fetal goiter are discussed. A 30-year-old-woman, gravida 3, para 2, with Graves’disease was treated with 300 mg/day PTU. Maternal serum concentration of free thyroxine (FT4) was 0.9 ηg/dL (normal 0.6–1.54), thyroidstimulating hormone (TSH) 2.28 mU/L (normal 0.5–4.2) and TSH-receptor autoantibody (TRAb) 14% (normal less than 12%). Fetal thyroid enlargement was noted by sonography at 25 weeks’ gestation. Cordocentesis was performed to assess fetal thyroid function. The fetal serum FT4 was 0.9 ηg/dL (normal 2.3–2.7) and TSH was 98.65 mU/L (normal 8.7–10.5) indicating hypothyroidism. PTU was decreased to 150 mg/day and the fetus was treated with injection of L-thyroxine (250 μg) into amniotic fluid at 32 and 35 weeks’ gestation. The patient remained euthyroid and serial ultrasound scans showed a shrinking of the fetal goiter. Spontaneous onset of labor occurred at 39 weeks’ gestation. The male neonate weighed 2630 g with no discernible thyroid enlargement. The thyroid function tests at birth and on 16th day of life showed euthyroid status. Maternal antithyroid antibodies in patients with Graves’disease, known as THS-receptor autoantibodies (TRAb), can result in stimulation or inhibition of fetal thyroid gland. PTU treatment of Graves’disease in pregnancy may be associated with neonatal goitrous hypothyroidism whereas transplacental passage of stimulating immunoglobulin may cause fetal goiter with hyperthyroidism. Therefore, when fetal goiter is detected, cordocentesis should be offered to assess fetal thyroid function. In cases of fetal hypothyroidism, intra-amniotic injection of thyroxine has shown to be effective in raising serum levels of thyroxine, reducing those of TSH and decreasing the size of goiter.

Jarcho-Levin syndrome (or spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. Prenatal sonographic diagnosis of Jarcho-Levin syndrome has been reported in both the first and second trimester. But always in families at risk. The most characteristic sonographic features were malaligned vertebrae, disorganization of vertebral bodies, and posteriorly fused ribs. We describe a case diagnosed during the second trimester ultrasound scan for screening of fetal anomalies in a couple without history of affected children. This was the first pregnancy of a 24-year-old woman. The course of the pregnancy was uneventful until a structural defect of the fetal spine was detected at the 20 weeks’ scan. Fetal karyotype by cordocentesis was 46 XY, and major cardiac malformations were excluded by detailed fetal echocardiography. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. The ultrasonographic findings allowed us making a reliable diagnosis of a variety of Jarcho-Levin syndrome, and adequate genetic counselling to the couple, even though no other malformations were associated and there was no family history for the syndrome. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the Jarcho-Levin syndrome. Our case illustrates the importance of an accurate ultrasound examination at both first and second trimester in order to detect any rare congenital syndromes.