Antenatal diagnosis of thalassaemia major.

Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks'' gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem.     

Antenatal treatment of fetal alloimmune cytopenias

The antenatal use of intravenous immunoglobulin (IVG) was explored in 9 cases of alloimmune cytopenias affecting fetuses. In 7 cases of alloimmune thrombocytopenia, IVG at a dose of 1 gm/kg/week appeared to be uniformly effective in elevating the fetal platelet count and preventing a recurrence of antenatal intracranial hemorrhage (2 cases). In 2 cases of Rh disease the results were more equivocal. There did not appear to be any significant toxicity associated with its use. The mechanism of IVG effect in the successfully treated cases remains uncertain.     

Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases.

In 4 years of 24 fetuses at risk for various sphingolipid and mucopolysaccharide storage diseases were examined. Amniocentesis at 16 weeks'' gestation was followed in most cases by culture of amniotic fluid cells and measurement in the cells of the activity of the enzyme suspected to be deficient. Six fetuses were affected; five were examined morphologically and biochemically after abortion. Two fetuses had Tay-Sachs disease, two had GM1 gangliosidosis and one had Hurler''s syndrome. Although in each affected detus the specific enzyme activity was absent, we found in the placenta 5 to 50% of the normal activity.     

Antenatal diagnosis of glutaric acidemia

Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric acid in the amniotic fluid, together with deficiency of glutaryl-CoA dehydrogenase in amniotic cells, prompted termination of the pregnancy, and studies on the abortus confirmed the diagnosis of glutaric acidemia. Glutaric acidemia, is, thus, another inborn error of metabolism which can be diagnosed in utero.     

Has prenatal ultrasonic diagnosis modified the prognosis of intestinal atresia? Results of a multicenter study

A multicentric investigation concerning intestinal atresia diagnosed in french university hospitals from 1979 to 1983, has been done. Out of 96 exploitable cases coming from 8 centers, 28 correspond to intestinal atresias which had subject to prenatal echographic diagnosis: that is 29%. 15 of the 96 atresias were affected with trisomy. 21 which had not been recognised in utero. Concerning the isolated duodenal atresia, not accompanied by any other malformation, the post surgical evolution has been appreciated during the 12 months following the surgical operation. There was no statistically significant difference, in favour of the group of children whose malformation has been recognised in utero, concerning the number of post surgical complications. This result, apparently deceitful, can be explained by the early management of these malformations in specialised centers which have participated in this study.     

Antenatal genetic diagnosis: current status and future prospects.

The current status of antenatal genetic diagnosis is reviewed and the limitations of present techniques are discussed. It is suggested that multidisciplinary clinics are the most efficient means of providing this aspect of health care. Advances in cell culture techniques, in ultrasonography and in fetoscopy will extend the services available, and the impact of this will be felt by the community. Education of the medical profession and the public in this area is necessary so that informed decision-making can take place.     

Antenatal ultrasonography to detect fetal renal abnormalities: a prospective screening programme.

OBJECTIVE--To evaluate screening for abnormalities of the fetal renal tract by ultrasonography and to determine the incidence of such abnormalities in a population. DESIGN--A 12 month prospective population study. Follow up of infants to between 9 and 18 months. SETTING--A district general hospital. PARTICIPANTS--6292 Pregnant women reaching 28 weeks'' gestation within the study period. INTERVENTIONS--Antenatal ultrasound scanning was offered to all of the women. Babies in whom an abnormality of the renal tract had been detected antenatally underwent ultrasound scanning at the end of the first week. If the abnormality was confirmed contrast radiography was performed. END POINT--Confirmation of suspected renal abnormality by postnatal investigations. Detection of abnormality in children thought to be normal antenatally. MEASUREMENTS AND MAIN RESULTS--Of the 92 babies who had abnormal antenatal scans, 42 had abnormalities confirmed postnatally. Four of them died and 21 had had or were awaiting an operation at 18 months'' follow up. Seven children had renal abnormalities that were missed antenatally. The incidence of abnormalities detected by screening antenatally was 0.65%, and the overall incidence at 18 months'' follow up was 0.76%. CONCLUSIONS--The incidence of structural renal abnormalities in babies is higher than reported previously. Antenatal ultrasonography is an effective way of detecting such abnormalities.     

Antenatal screening by measurement of symphysis-fundus height.

A study was undertaken to assess the value of symphysis-fundus measurement as a screening procedure for intrauterine growth retardation. The reproducibility of this measurement was investigated in two groups of six patients, each measured six times by six different observers. The intraobserver coefficient of variation was 4.6% and the interobserver coefficient of variation 6.4%. There was no evidence that experience aided consistency. A chart of symphysis-fundus measurements derived from Cardiff data was found to be similar to others previously published, and one measurement below the 10th centile identified 64% of pregnancies in which the eventual birth weight was below the 10th centile for gestational age. Symphysis-fundus measurement is a useful screening test; one chart could be used for any Caucasian population and should be incorporated into the maternity services "co-operation card."