Genetic amniocentesis in biamniotic twin pregnancies by a single transabdominal insertion of the needle.

We present a technique to aspirate amniotic fluid from both sacs in biamniotic twin pregnancies using a single abdominal insertion with a spinal needle. It was successful in 48 out of 55 cases of biamniotic twin pregnancies referred to our perinatal unit between 1985 and 1994. The single insertion technique was used when the inter-amniotic membrane was clearly evident and two separate free amniotic fluid pools could be reached by the operator with a single puncture. An adequate amount of amniotic fluid was sampled from both sacs to make a cytogenetic diagnosis in all cases. There were four fetuses with trisomy 21 in three twin pregnancies. In two cases, only one twin was affected whilst the co-twin was normal, so that a selective feticide was performed. No miscarriages due to genetic amniocentesis were reported. After 1990, all genetic amniocenteses in biamniotic twin pregnancies (except for one case due to late booking) were performed between 14 and 15 weeks of gestation and with all cases except one, it was possible to sample both twins by a single puncture. We suggest that early amniocentesis (14-15 weeks) by a single abdominal puncture could be a reliable and safe alternative to first-trimester chorionic villus sampling in twin pregnancies.

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.

Trisomic 22 placenta in a case of severe intrauterine growth retardation.

We describe a case in which a trisomic 22 placenta could be the cause of severe growth retardation in a chromosomally normal female fetus. At amniocentesis a mosaic 46,XX/47,XX, +22 was observed in amniotic fluid specimens sampled on two different occasions, while fetal blood from a diagnostic cordocentesis revealed a normal chromosome constitution. Postnatal studies showed the consistent presence of trisomic 22 cells in the placenta, while only normal metaphases were found in amnion, blood, and fibroblast cultures.

Serum levels of immunoreactive trypsin during development: comparison with levels of lipase and amylase.

In order to obtain additional information on serum pancreatic enzyme levels during development, we have measured immunoreactive trypsin (IRT), immunoreactive lipase (IRL), and total amylase in paired fetal and maternal sera. Samples were obtained during early gestation (14-21 week of gestation) and at the time of normal delivery. IRT levels were lower in maternal sera as compared to paired fetal and neonatal (p less than 0.005); conversely, IRL and amylase, although present in measurable concentrations, were significantly lower in fetal and neonatal sera than in the maternal (p less than 0.001). We also serially monitored serum pancreatic enzyme levels in a group of premature infants during the first 10 days of life. Concentrations of IRT showed a significant increase over time (p less than 0.05) and those of IRL remained stable while amylase levels decreased sharply, suggesting possible maternal origin of this enzyme. Serum concentrations of the three pancreatic enzymes in newborns at term (second day of life) were higher than in infants aged 0.5-6 months; however, only IRT levels were above the normal range for adults. Beyond the neonatal period, IRT levels were stable and comparable to adults, whereas amylase and IRL levels were very low in infants younger than 6 months and increased significantly with age (p less than 0.001). These data seem to indicate that "physiologic hypertrypsinemia" occurs early during development and may be accentuated by postnatal events. They provide an indirect indication of both early fetal production of trypsinogen and possible placental transfer of pancreatic enzymes from the maternal circulation.(ABSTRACT TRUNCATED AT 250 WORDS)

[Sampling fetal blood from the umbilical cord under echographic guidance]. / Il prelievo di sangue fetale dal cordone ombelicale sotto guida ecografica.

The performance of 465 sonographically guided percutaneous umbilical blood samplings and its use in the management of diagnostic problems in the second and third trimester of pregnancy are described. The method has been employed in the prenatal assessment of 423 patients (357 procedures in the second trimester and 108 in the third trimester). Pure fetal blood was obtained in all third trimester samplings whilst in the second trimester in 4 cases (1.1%) fetal blood could not be obtained at the first procedure and in 9 cases (2.6%) contamination with maternal blood or amniotic fluid was observed. Data analysis confirm how this simple and rapid procedure offers access to the fetal circulation for diagnostic and therapeutic purposes.

The yolk sac in early pregnancy failure.

An attempt was made to visualize the yolk sac in 845 patients scheduled for chorionic villi sampling. The distribution of yolk sac diameters and the interpolating growth curve up to 11 weeks of development were analyzed in 239 pregnant women who were delivered of normal infants. The highest visualizing rate of the yolk sac in normal pregnancies was 97 at 7 weeks of gestation. A total of 130 miscarriages occurred before chorionic villi sampling. In these cases, the diameter of the yolk sac versus crown-rump length tended to be larger than found in normal pregnancies. The visualizing rate of the yolk sac in miscarriages after the embryo had been formed was significantly higher in those women who demonstrated fetal heart activity (82.1%) than in those who did not (54.5%). On the other hand, the yolk sac was observed in 44% of miscarriages without a visible embryo. These findings suggest different types of missed abortion. An abnormal karyotype was observed in 23 of 29 chromosomal analyses performed on aborted specimens. An abnormal karyotype was observed in all eight cases with only a yolk sac-like structure within the gestational sac.