Changes in circulating alphafetoprotein and human chorionic gonadotrophin following chorionic villus sampling.

Chorionic villus sampling (CVS) is rapidly becoming established as a routine procedure for first-trimester fetal diagnosis. The technique can result in fetomaternal haemorrhage and this might sensitize Rhesus-negative mothers and on occasion lead to spontaneous abortion. Serial sampling indicates that there is a rapid rise in alphafetoprotein (AFP) levels following CVS; however, this is not reflected by raised levels at 16-18 weeks and does not influence the subsequent pregnancy outcome. Unlike AFP, alterations in hCG levels are small and variable. Anti-D prophylaxis for non-sensitized Rhesus negative mothers should be given after CVS and the procedure may be contra-indicated in patients who are already sensitized.

Ossification of the vascular pedicle in microsurgical fibular free flap reconstruction of the head and neck.

BACKGROUND AND PURPOSE: The fibular free flap, often used for osseous reconstruction following extirpation of head and neck malignancies, has been associated with heterotopic periosteal ossification. We aimed to determine the frequency and radiologic characteristics of this process and describe its clinical correlates. MATERIALS AND METHODS: Surgical records for 2 years and neck imaging reports for 10 years were evaluated to identify patients with fibular free flap reconstruction and CT and/or PET/CT imaging available for review. The images were evaluated for the quality, type, and contour of ossification, and the reports were reviewed for associated clinical findings and radiologic impressions. RESULTS: Of 32 patients with posttreatment CT or PET/CT imaging, ossification was evident in 16 patients (50%) as early as 1 month following fibular free flap reconstruction. In 8 patients, it mimicked a new bone; in 5, it appeared as linear attenuation; in 2, as multiple short segments; and in 1 patient, a mixed appearance was found. No associated FDG uptake was seen on PET/CT. On MR imaging, these findings were extremely subtle or not appreciable. In only 1 patient was new bone associated with symptoms. CONCLUSIONS: Periosteal ossification of the vascular pedicle is commonly evident on CT following fibular free flap, even as early as 1 month after reconstruction, though the finding is not typically noted on imaging. While symptoms related to new bone are uncommon, they may mimic recurrent tumor. The location and pattern of ossification and the absence of a soft-tissue mass or FDG uptake are useful distinguishing imaging features.

Can fetal gastroschisis always be diagnosed prenatally?

Fetal gastroschisis is regarded as a relatively straightforward ultrasound diagnosis. We report two cases of infants born with undiagnosed gastroschisis despite several detailed prenatal assessments following raised serum alphafetoprotein measurements. In both cases, the bowel was healthy with no evidence of long-term herniation through the abdominal wall and primary surgical correction was successful. Gastroschisis has previously been classified as 'antenatal' and 'perinatal', and we conclude that the latter type is not always possible to diagnose prenatally.

Effect of chorionic villus sampling and early pregnancy counselling on uptake of prenatal diagnosis.

An early pregnancy counselling clinic was introduced to improve the uptake of prenatal diagnosis and to offer chorionic villus sampling to women aged 38 and over by their expected date of delivery. Ninety eight (62%) unselected older mothers were seen before 11 weeks' gestation, and 23 (32%) of those with viable pregnancies elected to undergo chorionic villus sampling compared with 38 (52%) electing amniocentesis. A quarter of the patients booking before 11 weeks had a miscarriage. Because of the future potential demand for chorionic villus sampling counselling during pregnancy and referral of eligible patients should occur as early as possible.

Uptake of amniocentesis in women aged 38 years or more by the time of the expected date of delivery: a two-year retrospective study.

The uptake of amniocentesis for the prenatal diagnosis of chromosome abnormalities in older women (greater than or equal to 38 years by the time of the expected date of delivery) is reviewed over a 2-year period. Overall, 41.3% of women were not tested, including a group of 7% in whom no record of discussion of prenatal diagnosis could be found on review of obstetric records. Refusal of the offer of amniocentesis and late booking were significantly greater in Asian women (P less than 0.01). One-third of chromosomally-abnormal infants were not detected antenatally in the study group.

Prenatal diagnosis of fetal glioblastoma multiforme.

Intracerebral tumours of the fetus are very rare conditions, most often presenting clinically as polyhydramnios and hydrocephalus. These conditions can be diagnosed with ultrasound and clearly differentiated from hydrocephalus and other intracranial lesions. The following report is of a case of an intracerebral tumour (glioblastoma multiforme) diagnosed at 33 weeks in utero using ultrasound. The prognosis for this condition is universally poor.

Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease.

We present a case in which an apparent omphalocele, diagnosed at 30 weeks gestation by ultrasound, led to identification of fetal trisomy 18 and congenital heart disease. At delivery, the fetus had the features of trisomy 18 and congenital heart disease but the omphalocele was absent. We suggest that the appearances seen are easily confused with a small omphalocele and could potentially result in unnecessary further investigations being performed.

Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy.

This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.

Chorionic villus sampling in a high-risk population--4 years' experience.

Between August 1982 and July 1986 a total of 163 pregnancies in 136 patients with a high genetic risk have had prenatal diagnosis by chorionic villus sampling. Villi were not obtained in five pregnancies (two of which subsequently miscarried), and 11 fetal losses followed successful sampling (four in pregnancies in which the fetus was shown to be affected). The rate of fetal loss fell with increasing experience of the team. Three sets of twins were all sampled successfully.

Sensorineural hearing loss and Kawasaki disease: a prospective study.

PURPOSE: Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and children that is now the most common cause of acquired heart disease in the pediatric age group in the United States and Japan. Reports have documented the association of acute KD with sensorineural hearing loss. To assess the prevalence of hearing loss following acute KD in a geographically and ethnically diverse population, a prospective, multicenter study of hearing loss in patients with KD was conducted. MATERIALS AND METHODS: Patients with acute KD were enrolled in 7 clinical centers and underwent a primary audiologic evaluation within 30 days of the onset of fever. Patients were subsequently reevaluated after resolution of the acute phase of the disease. A questionnaire assessing risk factors for hearing loss was also administered. RESULTS: A total of 62 patients were evaluated during the 29-month study period. At the first audiologic evaluation, 19 patients (30.6%) had sensorineural hearing loss, 6 patients (9.7%) had conductive hearing loss, 17 patients (27.4%) had normal hearing, and 20 patients (32.3%) had inconclusive studies. Overall, 2 of 36 patients (5.5%) had sensorineural hearing loss documented on their second audiologic evaluation. No risk factors for hearing loss were identified by the questionnaire. CONCLUSIONS: Transient sensorineural hearing loss (20 to 35 dB) is a frequent complication of acute KD and may be related to salicylate toxicity in some patients. Persistent sensorineural hearing loss is uncommon. Parents and primary care providers should be made aware of the potential for persistent sensorineural hearing loss following resolution of KD, but routine audiologic screening of this patient population does not appear to be warranted.