Biomedical subjects

S Lauricella

Publications and source records attributed to S Lauricella.

3 recordsLinked to original sources

PubMed1991

Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation.

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.

Female↗

PubMed1990

The risks of early cordocentesis (12-21 weeks): analysis of 500 procedures.

Five hundred cordocenteses were performed between 12 and 21 weeks. The indications were thalassaemia (386), rapid karyotyping (97), feto-maternal allo-immunization (10), rubella (6), and toxoplasmosis (1). One hundred and ten pregnancies underwent termination on the basis of the result, while 20 of the 370 pregnancies intended to continue were lost to follow-up. Amongst these were 16 fetal losses (4.3 per cent) and 22 premature deliveries (5.9 per cent); no other complications were reported. Four adverse prognostic factors were identified: (a) cord bleeding; (b) fetal bradycardia; (c) prolonged procedure time; and (d) anterior insertion of the placenta. There was no 'obvious' difference in fetal loss rate with advancing gestation until 19-21 weeks, when the risk of fetal loss decreased to 2.5 per cent.

Blood Specimen Collection↗

PubMedDate not supplied

First trimester fetal blood sampling.

The authors report 8 diagnostic cordocentesis performed at the end of the first trimester. The indication was thalassemia (5 cases) and karyotyping (3 cases). The technique requires that the operator holds both the probe and the needle (25 G X 90 mm); the fetal blood sample ranged between 0.25 and 0.35 cc, sufficient in all cases for the diagnosis. 1 pregnancy was terminated on the basis of the diagnostic result; no complications reported at a 3-weeks follow-up in the remaining 7 patients. The first trimester cordocentesis offers several advantages if compared to CVS, especially for thalassemia prenatal diagnosis; furthermore it opens new perspectives for intrauterine transplantations. More experience is required to assess the safety of the procedure.

Blood Specimen Collection↗