Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.

Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation.

AIM: To analyze the incidence, transvaginal detection age, sonographic appearance, clinical course, and outcomes of pregnancy in cases with abnormal fetal brain structure and/or circulation, and to evaluate the clinical significance of sonographic abnormalities. METHODS: Serial observation of the fetal brain and intracranial Doppler assessment by transvaginal approach at four-week intervals were performed in 306 singleton fetuses from the first trimester and 13 referral cases at our ultrasound units from January 1996 to December 1997. Detection of abnormalities was followed by subsequent serial scans every one or two weeks. RESULTS: Morphological abnormalities were found in 66 cases: open neural tube defect (9 cases), disorders of prosencephalic development (2), ventriculomegaly with cerebellar hypoplasia (1), hydrocephalus (1), craniosynostosis (1), unclassified brain anomaly (1), brain atrophy (1), isolated choroid plexus cysts (19), choroid plexus cysts with cerebellar hypoplasia (2), lateral ventricular asymmetry (26), and subependymal cyst (3). Chromosomal aberration was found in 4 cases. Artificial abortion was performed in 10 cases and fetal demise occurred in 2 cases. Isolated choroid plexus cysts, isolated ventricular asymmetry and subependymal cyst were not clinically significant. Two abnormal flow patterns of superior sagittal sinus, sharp doubled pulsatile pattern, and disappearance of normal pulsatile pattern were found in different situations. CONCLUSION: Serial transvaginal observation of the fetal brain provided evidence of hitherto unreported intracranial abnormalities: subependymal cyst, craniosynostosis, medullary kink in Chiari malformation, brain damage, and abnormal venous flows. Venous flow assessment may be of great potential in predicting fetal neurological well-being.

Influence of mode of delivery on fetal pituitary-thyroid axis.

We measured the cord serum levels of thyroid-stimulating hormone (TSH), thyroxine (T4) and triiodothyronine (T3) in 922 neonates delivered by mothers who had no thyroid disorders. The T4 and T3 levels increased progressively from the 27th to the 40th week of gestation. However, the TSH levels varied widely and had no correlation with gestational age, because they were affected by the mode of delivery. The mean cord serum TSH level in neonates delivered by vacuum extraction was 16.3 +/- 10.0 microU/ml (n = 30), which was significantly higher than the level following normal vaginal delivery (9.5 +/- 6.0 microU/ml, n = 622) (p less than 0.005). The mean cord serum TSH level following elective caesarean section was 6.5 +/- 3.1 microU/ml (n = 79), and this was significantly lower than after normal vaginal delivery (p less than 0.005). TSH levels in high-risk neonates were significantly higher than in neonates without risk factors. A significant positive correlation was found between the duration of the second stage of labor and the cord serum TSH level (r = 0.45, n = 412, p less than 0.01). However, there was no correlation between the cord serum TSH level and the congenital hypothyroidism screening TSH level (r = 0.01, n = 468). We conclude that the cord serum TSH level reflects delivery stress and that an elevated level does not influence the congenital hypothyroidism screening TSH test in which blood is obtained at five days of life.