摘要:

Objectives: The primary purpose of this pilot study was to determine whether the safety of early amniocentesis (EA; 11 weeks to 12 weeks and 6 days) is similar to midtrimester amniocentesis (MA; 15 weeks to 16 weeks and 6 days). The secondary objectives were to determine the cytogenetic success and accuracy of EA compared with MA. Methods: This prospective, randomized clinical trial compared continuous ultrasound-guided EA and MA (22-gauge needle) in patients at a late maternal age (≥ 35 years). The procedures were compared for safety, success and accuracy. Results: Among the 683 women randomized and followed to pregnancy completion, there was a total of 27/344 (7.8%) and 25/339 (7.4%) fetal losses (spontaneous and induced abortions) in the EA and MA groups, respectively (difference 0.4%; CI ––3.6 to 4.4%). The rate of postprocedure spontaneous fetal loss was 2.4% (8/330) in the EA group and 3.3% (10/299) in the MA group (NS). The procedure success rate at the first attempt was 97.6% in the EA group and 99.7% in the MA group. There were no diagnostic errors, and all but 2 EA cultures were successful (both repeated successfully). The perinatal outcome was similar in both groups. Conclusions: EA appears to be as safe and accurate as MA. A large multicentered, randomized trial is currently underway to verify these re

ISSN:1015-3837    

DOI:10.1159/000264285

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Amniotic fluid endothelin-1 (ET-1) levels were measured in 38 euploid and in 15 aneuploid pregnancies in the 17th gestational week. Varying distribution of the peptide levels was found in the two groups, with higher values in the pathological cases. Should this finding be confirmed in maternal blood, ET-1 could represent a further analyte to be used in prenatal screening for aneuploidy.

ISSN:1015-3837    

DOI:10.1159/000264286

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The effectiveness of unconjugated estriol (uE3) as a serum marker for the detection of Down syndrome (DS) during the 2nd trimester of pregnancy was evaluated. A population of 18,764 normal singleton pregnancies was screened for α-fetoprotein and human chorionic gonadotropin. In 9,311 women, uE3 was added. Using a risk of 1:250 at term as a cutoff value, the false-positive rates were 4.1 and 4.3% without and with uE3, respectively. The detection rates in 47 DS serum samples, some of which were studied retrospectively, were 66% without uE3 and 57% with uE3. In 12 of 25 younger women and in 19 of 22 older women, DS was detected without uE3. The uE3 contributed to the detection of 4 additional DS pregnancies (1 in the young and 3 in older women). On the other hand, 8 DS pregnancies (3 in younger women and 5 in older women) escaped detection. In our sample the addition of uE3 1:250 following maternal serum α-fetoprotein and human chorionic gonadotropin markers tests should be regarded as high-risk pregnancies, even in cases in whom the addition of uE3 lowers the risk beneath the cutoff valu

ISSN:1015-3837    

DOI:10.1159/000264287

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

A 9 years’ experience with percutaneous umbilical blood sampling (PUBS) has been appraised. A total number of 1,272 procedures have been performed in our institution between 1986 and 1994; 861 before the 24th week of gestation and 411 after 24 weeks. The indications for PUBS changed throughout these years because of the rapid evolution of molecular biology and because of the fact that certain conditions can now be diagnosed at earlier stages of gestation by chorionic villi sampling and amniocentesis. Sampling at a later gestational age reflected changes in indications. PUBS loss rate has been calculated for 482 fetuses less than 24 weeks, retrospectively found to be negative for the suspected condition and has been related to gestational age, duration of the procedure and number of needle insertions. Total procedure-related loss rate was 2.3%: 1.6% intrauterine fetal deaths within 48 h of the procedure and 0.7% spontaneous abortions in the 2 weeks following the procedure. Gestational age at the time of the procedure and duration of the procedure were significantly related to fetal losses within 48

ISSN:1015-3837    

DOI:10.1159/000264288

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofacial dysmorphism, hepatosplenomegaly and a moderate dystostosis multiplex was noted. High urinary excretion of oligosaccharides and a severe deficiency of neuraminidase and of β-galactosidase in cultured skin fibroblasts could be found. Thus, a rare early infantile type of galactosialidosis was diagnosed. The patient died at the age of 3 months because of cardiac failure. The consanguineous but otherwise healthy parents received genetic counselling for further pregnancies and have been informed about the possibility of prenatal diagnosis. In view of this possibility, the parents decided to have more children. In the second pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis revealed normal fetal enzyme activities. It resulted in a healthy female child and in the fourth pregnancy reduced but still in the heterozygote level enzyme activities had been found, a healthy boy was born

ISSN:1015-3837    

DOI:10.1159/000264289

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Anti-TJa alloimmunization is an extremely rare condition which can cause miscarriages during the first and second terms of pregnancy. At 20-year-old female patient, an anti-TJa carrier, was given plasma transfusions in the course of her first two pregnancies. The cordocentesis, which was the main follow-up test during the first pregnancy, could not be carried out during the second pregnancy due to the presence of a huge subchorionic hematoma. Both pregnancies were characterized by fetal growth retardation, which was particularly considerable in one. Due to chronic fetal distress, both infants were delivered prematurely by cesarean section. The immunohematological data concerning anti-TJa alloimmunization and the different palliative treatments available to date are reviewed.

ISSN:1015-3837    

DOI:10.1159/000264290

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The 4th child of an Arabian consanguineous family with 2 previous infant deaths due to diffuse mesangial glomerulosclerosis (at the ages of 1 and 44 days) and 1 healthy 3-year old child was followed up by ultrasonography from the 9th until the 35th week of gestation. Ultrasound showed enlarged hyperechogenic kidneys from the 14th week onwards, and the amniotic fluid level was increased to the upper normal limit. An amniocentesis at 14+ weeks of gestation showed a normal male karyotype and normal α-fetoprotein levels in amniotic fluid and maternal serum. Albumin and α1-microglobulin levels in the amniotic fluid were within the normal range and not useful for diagnostic purposes. The child was born at the 36th week of gestation and died of renal failure 21 days later. A postmortem renal biopsy specimen revealed diffuse mesangial glomerulosclerosi

ISSN:1015-3837    

DOI:10.1159/000264291

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The authors performed a color Doppler ultrasound examination of both renal and interlobar arteries of 15 pregnant women affected by pregnancy-induced hypertension. The pulsatility index (PI), the resistance index (RI) and the systolic/diastol-ic ratio (S/D) values were compared with those of 15 healthy pregnant women of the same gestational age and with those of 15 nonpregnant healthy women. The authors found a significant difference (p < 0.0001) for all parameters investigated in renal and interlobar arteries between healthy pregnant women and the other two groups. No difference was found between patients with pregnancy-induced hypertension and nonpregnant healthy women. In conclusion, color Doppler ultrasound examination of both renal and interlobar arteries seems to be important for understanding the etiopathogenesis of pregnancy-induced hypertension.

ISSN:1015-3837    

DOI:10.1159/000264292

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Early urethral obstruction sequence (EUOS) is characterized by severe bladder distension by the end of the first trimester of pregnancy, resulting in renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia. We reviewed the outcome of 18 fetuses with suspected EUOS. The mean gestational age at the time of diagnosis was 15 weeks. In 1 fetus, a vesicoamniotic shunt was placed unsuccessfully. Pregnancy was terminated in 11 fetuses and 9 showed signs of pulmonary hypoplasia and severe renal disease on autopsy. In 3 cases, the autopsy material could be evaluated. Premature delivery occurred in 2 patients, and 5 chose to deliver at term. All 7 fetuses died soon after birth because of respiratory failure and lung hypoplasia; renal abnormalities were also found on autopsy. Since it is currently not clear whether prenatal intervention will prevent renal dysplasia and it is not known how early it should be done to prevent pulmonary hypoplasia, we believe that termination of pregnancy should be discussed when EUOS is suspected.

ISSN:1015-3837    

DOI:10.1159/000264293

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Exstrophy of the urinary bladder is a rare congenital malformation. The first case of sonographic diagnosis, prior to viability, of bladder exstrophy without associated anomalies is presented. The diagnosis before viability allowed the parents to receive counseling on prognosis as well as possible options. This case is unique in that the bladder anomaly was an isolated defect, not associated with any other structural anomaly. The literature on the subject is also reviewed.

ISSN:1015-3837    

DOI:10.1159/000264294

出版商:S. Karger AG    

年代:1996

数据来源: Karger