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Biomedical subjects

M Lituania

Publications and source records attributed to M Lituania.

At least 19 recordsLinked to original sources
PubMed2005

Non protein bound iron concentrations in amniotic fluid.

OBJECTIVES: To investigate whether amniotic fluid concentrations of non protein bound iron (NPBI) vary with growth in healthy fetuses and also offer a reference curve in the second trimester of pregnancy. DESIGN AND METHODS: Amniotic fluid concentrations of NPBI were measured by HPLC in 118 women with physiological singleton pregnancies, who underwent amniocentesis for fetal karyotype between weeks 15 and 18 of gestation. RESULTS: NPBI increased progressively from weeks 14--15 to weeks 15--16, peaking at 17--18 weeks of gestation. NPBI values regressed positively with gestational age (GA). Multiple linear regression analysis between NPBI, as dependent variable, and various fetal parameters, as independent variables, showed a statistically significant regression coefficient with GA, bi-parietal diameter and transverse cerebellar diameter. CONCLUSIONS: The present data constitutes the first quantification of NPBI concentrations in amniotic fluid under physiological conditions. Correlations with GA and ultrasound fetal biometry suggest that NPBI may play a role in fetal growth.

Adult↗
PubMed2002

S100B protein cord blood levels and development of fetal behavioral states: a study in normal and small-for-dates fetuses.

OBJECTIVE: We aimed to determine whether S100B protein levels in cord blood and the development of fetal behavioral states were altered and interrelated in small-for-dates (SFD) fetuses. METHODS: Umbilical cord blood samples were collected from 12 SFD fetuses with normal umbilical artery (UA) Doppler findings, from six SFD fetuses with abnormal Doppler waveform patterns and from 36 controls matched for gestational age. S100B protein levels were measured by means of a specific radioimmunoassay. Fetal behavioral state recordings were made before delivery by Cesarean section and data were expressed as percentage of quiet sleep coincidence (C1F), of activity state coincidence (C2-4F) and of no coincidence (NOC). Flow velocimetry waveforms were recorded from the uterine artery, UA and fetal middle cerebral artery (MCA). RESULTS: Mean S100B protein levels in umbilical plasma were significantly higher in the six SFD infants with abnormal prenatal Doppler findings (3.31 +/- 0.65 microg/l) than in SFD infants with normal Doppler findings (1.56 +/- 0.35 microg/l) and in controls (1.23 +/- 0.43 microg/l). Similarly in these fetuses NOC was higher and C2F significantly lower (p < 0.05), but there was no significant difference in C1F. S100B concentrations were correlated with the UA pulsatility index (PI) (r = 0.78, p < 0.01), with the MCA PI (r = -0.78, p < 0.01) and with the UA PI/MCA PI ratio (r = 0.80, p < 0.01). Also, NOC and C2F percentages were correlated with the UA PI (r = 0.61, p < 0.01 and r = -0.61, p < 0.01, respectively), with the MCAPI (r = -0.72, p < 0.001 and r = 0.66, p < 0.01, respectively), and with the UA PI/MCA PI ratio (r = 0.60, p < 0.01 and r = -0.54, p < 0.05, respectively). NOC was also correlated with S100B protein (r = 0.48, p < 0.05); the correlation of S100B protein and C2F almost reached significance (r = -0.47, p < 0.05). CONCLUSIONS: This study provides evidence of a relationship between a biochemical marker of brain development and/or integrity and the development of fetal behavioral states, offering additional information on brain maturation in normal and high-risk pregnancies.

Blood Flow Velocity↗
PubMed1996

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.

The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was terminated. For 1 diagnosis, linkage analysis was used: the female fetus turned out to be normal. In 24 fetuses, the direct analysis of the mutation by StB12.3 probe was performed: 6 female and 3 male fetuses were found to carry a full mutation and 1 female fetus was found to carry a premutation. In 3 cases, the diagnoses were verified on fetal blood samples. Several tissues of 2 aborted male fetuses were analyzed for the fragile X mutation. The results are reported and discussed.

Chorionic Villi Sampling↗
PubMed1994

Study of foetal hip: intrauterine positions and sonographic aspects.

The authors present their initial experience in the US Study of the foetal hip. Focusing on difficulties found and the possible advantages. The US foetal hip study shows that it is most likely to obtain qualitative morphologic data rather than quantitative that are interesting in case of occasional identification remark during US.

Female↗
PubMed1993

Holoprosencephaly and primary craniosynostosis: the Genoa syndrome.

We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynotosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1993

Transverse limb reduction defects after chorion villus sampling: a retrospective cohort study. GIDEF--Gruppo Italiano Diagnosi Embrio-Fetali.

A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2.9/1000 for CVS performed at 9 weeks' gestation and 1.0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.

Chorionic Villi Sampling↗
PubMed1990

Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation.

Between May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at the First Department of Obstetrics and Gynaecology, 'L. Mangiagalli' of the University of Milan and at the Department of Obstetrics and Gynaecology of 'Gaslini' hospital in Genoa. A total number of ten abnormal fetal karyotypes were diagnosed. In addition, one case of pseudomosaicism (not confirmed on fetal blood) and one case of osteogenesis imperfecta type II (observed at ultrasound examination) were also detected. Eleven pregnancies were therefore terminated because of an abnormal fetus. Out of 494 pregnancies (excluding terminated pregnancies) there were 16 fetal losses within the 28th week; ten of these occurred in the 2 weeks following the procedure. There were 475 live-births, of which 447 were term deliveries and the other 28 deliveries occurred before the 37th week of gestation.

Amniocentesis↗
PubMed1990

Holoprosencephaly: prenatal diagnosis by sonography and magnetic resonance imaging.

Magnetic resonance (MR) imaging was performed on two women at the 33rd and 34th pregnancy week, respectively, after ultrasonographic detection of a brain malformation. Fetal neuromuscular blockade was induced by pancuronium bromide injected into the umbilical vein under continuous ultrasound (US) guidance. MR images supported the echotomographic diagnosis of holoprosencephaly, improving the image quality and offering additional information in such cases of difficult differential fetal diagnosis. Holoprosencephaly was finally confirmed by neonatal US and autopsy (case 1), US, CT and MR (case 2).

Adult↗
PubMed1990

Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.

Congenital osteogenesis imperfecta (OI) was diagnosed by ultrasound in a 31-week-old fetus, and the diagnosis confirmed after delivery by caesarean section at week 36. The baby survived the neonatal period, but failed to thrive, had recurrent respiratory infections and ultimately died at 8 months. Cultured fibroblasts synthesized both normal type I collagen and unstable type I collagen harbouring a structural defect in the alpha 1 (I) cyanogen bromide-derived peptide number 8 (CB8) region of the molecule, indicating a heterozygous dominant mutation. At birth, the radiological picture was that of the "thin bone"-type of congenital OI (OI type IIB/III in the Sillence classification); at the age of 12 weeks ribs and long bones had undergone a marked expansion giving a very different picture, that of the "thick bone"-type congenital OI (OI type IIA). The mechanism responsible for this change in bone structure is not known, but fractures and callus formation are unlikely to be the only factors. Caution is needed in the interpretation of radiographs of newborns with OI for prognostic or genetic purposes.

Collagen↗
PubMed1990

Ultrasonic diagnosis and perinatal management of complicated and uncomplicated fetal ovarian cysts: a collaborative study.

Ovarian cysts can be demonstrated in the ovaries of fetuses and full term infants at birth. Small cysts involute spontaneously during fetal life or within the first few months of life. Large cysts may cause mechanical complications or respiratory distress. Sonographic detection of fetal ovarian cysts has been reported, as well as intrauterine surgical treatment. The sonographic findings and the outcome of the smaller and the complicated cysts were studied in 25 pregnant women. Uncomplicated fetal ovarian cysts should be monitored by weekly examination until delivery. Huge ovarian cysts may be an indication for cesarean section; or, intrauterine aspiration may be the alternative. Complicated fetal ovarian cysts represent an indication for neonatal surgery.

Female↗