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Biomedical subjects

F Avni

Publications and source records attributed to F Avni.

7 recordsLinked to original sources
PubMed1992

[Collection of fetal cord blood for karyotyping].

Cordocentesis was performed in 234 pregnancies (241 fetuses) for rapid karyotyping. The indication was in 86% of cases: abnormal ultrasound. The abnormality encountered were IUGR (85 fetuses) or morphologic abnormality of the pregnancy (130 fetuses). The other indications were maternal mosaicism, mosaicism in cultured amniotic cells, maternal age (late booking), fragile X syndrome, confirmation of abnormal karyotype obtained by amniocentesis. The fetal karyotype was established in 97.5% (6 failures), 18 karyotypes were abnormal in the group "abnormal ultrasound" (208 pregnancies, 8.6%; 215 fetuses, 8.3%). No maternal complication were observed, there were 6 fetal losses (2.5%).

Blood Specimen Collection↗
PubMed1990

[Cordocentesis: experience in 391 initial samples].

The first diagnostic cordocentesis was performed in our unit in october 1985. Our 4-year experience is reported: 391 cordocentesis were performed in 360 patients during gestational weeks 14 to 42. The first attempt was successful in 90% of the procedures, 4 samplings failed, there were 4 fetal deaths within one week after diagnostic cordocentesis, one of them appears to be directly linked to the punction. A transient fetal bradycardia was observed in 9.9% of the cases, bleeding occurred in 19% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemopathy, search for paternity, assessment of fetal acid-base status, biochemical dosage. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Chromosome Aberrations↗
PubMed1990

[The value of prenatal chromosomal diagnosis in cases of fetal abnormalities: results obtained in 468 pathological pregnancies].

The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.

Chromosome Aberrations↗
PubMed1989

Diagnostic cordocentesis: two years of experience.

The first diagnostic cordocentesis was performed in our unit in October 1985, our 2-year experience is reported. 144 samplings were performed in 137 patients (139 fetuses - 2 patients had twin pregnancies) during gestational weeks 14 to 42. The first attempt was successful in 80% of the procedures, 4 samplings failed. There were no fetal deaths within 3 days after diagnostic cordocentesis, a transient fetal bradycardia was observed in 12.2% of the cases, bleeding occurred in 13.6% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemophilia A, alloimmunisation, search for paternity, assessment of fetal acid-base status. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Blood Specimen Collection↗
PubMed1989

[Cervical ectopic thymus].

Two cases of cervical aberrant thymus in infants are reported; it's important to identify such ectopia because thymic tissue involutes spontaneously later on; neither surgery nor other treatment is needed. Ultrasonography is a method of choice for tissue characterization of ectopic thymus and differential diagnosis with other cervical masses.

Diagnosis, Differential↗
PubMed1987

The sonographic evaluation of normal thymus in infants and children.

Sonography has been used to evaluate 50 "asymptomatic" infants (aged from birth up to two years) with typical appearing thymus on chest X-ray. The ultrasonic features of the normal gland are described. Moreover, the contribution of ultrasound is illustrated by five cases of partially ectopic thymus and by one case of prominent gland in a teenager. Ultrasound may help in differentiating normal gland from mediastinal masses by defining echogenicity, location and extension.

Choristoma↗