Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe.

OBJECTIVE: Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. SETTING: Prenatal ultrasound units in areas that report to contributing congenital malformation registers. METHODS: All cases with a suspected or confirmed neural tube defect and delivered within the 30 month study period were identified from 18 Congenital Malformation Registers from 11 European countries. Data on the pregnancy, prenatal scans, outcome of pregnancy, and information on different screening policies for each country were analysed. RESULTS: 670766 deliveries occurred in the area covered by the registers during the study period. A neural tube defect was diagnosed at delivery in 542 cases. In 84% of these, the lesion was isolated (166 anencephaly, 252 spina bifida, 35 encephalocele). Of the 166 isolated cases with anencephaly, 96% were correctly identified prenatally; one was missed on scan, two were wrongly diagnosed, and four were not scanned (sensitivity 98%). 84% of the prenatal diagnoses were made before 24 weeks' gestation; 86% of isolated anencephalic pregnancies were terminated. Of the 252 cases of isolated spina bifida, 171 (68%) were correctly identified prenatally; 66% of these before 24 weeks' gestation. The diagnosis was missed on scan in 60 cases and 21 were not scanned (sensitivity 75%). The mean reduction in birth prevalence because of termination of pregnancy for spina bifida was 49% (range 6-100%). There was a wide variation between centres in prenatal detection rate (33-100%), termination of pregnancy of prenatally diagnosed cases (17-100%), and gestation both at diagnosis and termination of pregnancy. CONCLUSION: A high prenatal detection rate for anencephaly was reported by all registers. There is a large variation in prenatal detection and termination rates for spina bifida between centres, reflecting differences both in policy and culture.

Antenatal minimal hydronephrosis: is its follow-up an unnecessary cause of concern?

The aim of this study was to determine if follow-up of antenatally diagnosed minimal hydronephrosis (anteroposterior renal pelvis diameter <10 mm) is justified or if it is an unnecessary cause of concern for the parents involved. A case-control study, with subjects and controls selected from the Wessex Antenatally Detected Anomalies Register was performed. Information regarding antenatal and postnatal follow-up, renal tract morbidity and degree of concern was obtained from a parental questionnaire. 70 of the 115 subjects contacted (60.9 per cent) and 52 of the 81 controls (64.2 per cent) returned the questionnaire. 65 of the 70 subjects (92.9 per cent) were rescanned postnatally when 28 cases (43.1 per cent) had resolved. Coexisting ureteric and/or calyceal dilatation was evident postnatally in 12 cases and this group was significantly more likely to have underlying pathology than the group with isolated renal pelvis dilatation. Subjects were significantly more likely than controls to have a UTI. The degree of concern was significantly greater in the subject group and subject parents thought about the result significantly more often than controls. From our results we concluded that the follow-up of minimal hydronephrosis can be modified. There is no need for repeated antenatal scanning, a change that could reduce the level of parental anxiety. Postnatal follow-up is required in all patients to exclude an underlying uropathy but again this can be modified, with the majority of patients requiring only an ultrasound scan. This reduced intensity of investigation accompanied with careful explanation to the parents should help to minimize their concerns.

Antenatal diagnosis of cystic hygroma or nuchal pad--report of 92 cases with follow up of survivors.

Information on the outcome of pregnancy was collected on 92 fetuses with cystic hygroma or nuchal pad, identified prenatally. Forty three (47% of the total) were associated with abnormal karyotype. Twenty five (27%) had normal karyotype but an additional abnormality was identified on ultrasound scan. There were 10 liveborn babies in this group of whom seven had significant problems postnatally. In twenty four (26%) cases the cystic hygroma or nuchal pad was an isolated finding. Seventeen (89% of those in which the pregnancy was electively continued) were liveborn and reported to be normal. Those with a normal karyotype, no other anomaly identified on antenatal scan, and smaller non-septate lesions have a good prognosis.

MURCS in a male?

A man with Klippel-Feil deformity, unilateral renal agenesis, and azoospermia is presented as a possible case of MURCS.

Kabuki make-up and Turner syndromes in the same patient.

We describe a 2-year-old girl with clinical features of both Turner syndrome and Kabuki make-up syndrome. Cytogenetic analysis of 100 cells derived from skin and peripheral lymphocytes showed a 45,X karyotype. Phenotypically she has most of the features expected in a girl with 45,X, but in addition is microcephalic with the dysmorphic features of Kabuki make-up syndrome.

Prevalence of intellectual handicap in Western Australia: a community study.

OBJECTIVE: To produce comprehensive community based data on individuals with intellectual handicap, the level of retardation, associated handicaps and demographic data. DESIGN: Multiple sources of ascertainment were used to identify all children in birth cohorts, 1967-1976 inclusive, who had an IQ less than 70. SETTING: The majority of cases were ascertained through Western Australian government agencies that provide services for the intellectually handicapped. Other sources included the support branch of the education department, private schools and the children's hospital. PATIENTS: In all, 1602 children, aged between 6 and 16 years, fitted the study criteria. RESULTS: The prevalence of intellectual handicap was found to be 8.9 per 1000 live male births and 6.3 per 1000 live female births with an overall rate of 7.6. The figures for mild, moderate, severe and profound retardation were 3.0, 2.4, 1.0 and 0.6 per 1000, respectively, with 0.8 per 1000 with an unknown IQ. Cerebral palsy occurred in 20% and epilepsy in 13% in addition to intellectual handicap. There was a significantly higher rate among those from rural compared with urban areas: 9.9 v. 6.5 per 1000 live births, respectively. CONCLUSIONS: This comprehensive epidemiological data on intellectual handicap in Western Australia will be of value in the planning of services, including screening and genetic counselling, and for the evaluation of care. The rural preponderance, in particular, is worthy of further evaluation.