摘要:

The presence of multiple ultrasonographic abnormalities is associated with a significantly increased risk of chromosomal defects, while for isolated abnormalities, the association is less clear. In a study of 1,177 fetuses with mild hydronephrosis at 16-26 weeks of gestation, the fetal karyotype was abnormal in 86 (7.3%) of the cases and the most common chromosomal defects were trisomies 21,18 and 13. The frequency of chromosomal defects increased with the number of additional abnormalities and for each chromosomal defect there was a characteristic pattern of associated abnormalities. However, in the 805 fetuses with apparently isolated hydronephrosis there were 5 (0.62%) with trisomy 21. On the basis of the maternal age and gestational age distribution of the population the expected frequency of trisomy 21 was 0.40%, which was not significantly different from the observed (0.62%). To demonstrate that such a difference is significant, it would be necessary to investigate at least 1 million pregnancies. In the meantime, parents could be counselled that the presence of mild hydronephrosis does not increase significantly the risk that the fetus has trisomy 21. Alternatively, the risk is 1.6 times higher than the maternal age and gestational age-related risk.

ISSN:1015-3837    

DOI:10.1159/000264258

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

This study provides estimates of risks for a wide range of chromosomal defects taking into account maternal age as well as the gestation at assessment. The estimates make it possible to counsel patients presenting at different stages of pregnancy. At the same time, they offer the possibility of evaluating the efficacy of biochemical and ultrasonographic markers in identifying fetuses with chromosomal defects.

ISSN:1015-3837    

DOI:10.1159/000264259

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Maternal serum alpha-fetoprotein (MSAFP) concentration values were measured in relation to maternal age and fetal sex in the 16th to 20th gestational weeks in samples taken from 9,556 pregnancies with the outcome of live, mature and healthy infants. Our results show positive significance between MSAFP concentration and maternal age (p < 0.001); we also found significantly higher AFP values in male fetuses than in female fetuses (p < 0.001). This specificity is y all probability due to the change in the physiologic AFP concentration of the pregnant woman. Considering maternal age and the new percentile AFP values, cutoff concentration values can be corrected, thus the quality of routine AFP screening can be improved. At the same time, with the application of the above parameters, a more effective selection of pregnancies at high risk for Down syndrome can be achieved.

ISSN:1015-3837    

DOI:10.1159/000264260

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

This study evaluates the possibilities of prenatal diagnosis of maternofetal platelet and anti-RhD incompatibilities by using molecular typing on amniocytes. Twenty-four amniocenteses were performed between 15 and 35 weeks of gestation (WG), 19 times for study of the fetal karyotype and 5 times because of anti-D immunization. HPA-1, HP A-3 and HP A-5 platelet phenotypes using PCR-RFLP and RhD phenotypes using amplification-refractory mutation system PCR were assessed in amniotic fluid and compared with those of fetal (15 times) or newborn (9 times) blood and with parental phenotypes (46 blood samples). The four phenotypes were always determined in amniocytes, and no discrepancies with fetal blood or parental phenotypes were noted. The reliability and low iatrogenicity of this method makes it suitable for amniocentesis from 15 WG onward in any woman whose spouse is likely to be heterozygous. These allow radical change with a clear beneficial effect in obstetrical care of immunized women.

ISSN:1015-3837    

DOI:10.1159/000264261

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

In trisomy 18, echocardiographic studies of affected neonates and pathological studies of stillbirths and infants have demonstrated a high incidence of cardiac defects. Fetal trisomy 18 can now be detected at 11–14 weeks of gestation, providing the opportunity to examine the incidence of cardiac defects at this gestational age. In 19 fetuses with trisomy 18 pathological examination of heart and great vessels was carried out after termination of pregnancy at 11–14 weeks of gestation. The abnormal karyotype was diagnosed by chorion villus sampling in pregnancies with increased fetal nuchal translucency thickness. All 19 fetuses had cardiac defects, and the commonest were ventricular septal defects in 16 (84%) and valvular abnormalities in 16 (84%). In 14 of the 16 cases with valvular abnormalities more than one valve was affected. The great vessels were available for examination in 18 of the 19 cases, and in 10 there was a hypoplastic aortic isthmus or pulmonary trunk. In 6 (32%) cases there was persistence of the left superior vena cava. In 1st-trimester fetuses with trisomy 18, the frequency of perimembranous ventricular septal defects and valvular abnormalities is similar to that in affected neonates. Haemodynamic changes due to the valvular abnormalities, especially imperforate valves, and hypoplasia of the great vessels may be the underlying mechanisms for the increased nuchal translucency of trisomic fetuses. Persistence of the left superior vena cava may result from venous congestion of head and n

ISSN:1015-3837    

DOI:10.1159/000264262

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry. The association of these techniques has demonstrated that this anomaly corresponds to a (X;X) translocation. Analysis of hybridization signals by laser scanning image cytometry allowed to localize that the breakpoints were at the X-centromeric region and Xp11.3, respectively. These results show the usefulness of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenatal diagnosis.

ISSN:1015-3837    

DOI:10.1159/000264263

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Fifty consecutive cases of isolated congenital diaphragmatic hernia were reviewed for prenatal utlrasound and neonatal physical findings. These were compared to survival and the need for extracorporeal membrane oxygenation (ECMO). No prenatal findings predicted survival or the need for ECMO. In left-sided hernias, the presence of the liver in the chest predicted (p = 0.02) the requirement for ECMO. In a cohort of 13 prenatally diagnosed inborn cases, the ultrasound triad of polyhydramnios, mediastinal shift and intrathoracic stomach predicted the presence of liver in the chest (p < 0.03).

ISSN:1015-3837    

DOI:10.1159/000264264

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We experienced 12 cases of congenital cystic adenomatoid malformation of the lung (CCAM) including 6 cases diagnosed antenatally. They were classified into three groups according to the clinical manifestations. Group A was associated with hydrops fetalis (n = 3), group B presented with respiratory distress symptoms after birth (n = 6), and group C showed no respiratory symptoms (n = 3). All cases of group A were lost because of hydrops and respiratory failure due to pulmonary hypoplasia. Because a compression of the mass is thought to be a cause of hydrops, this group is considered to be a good indication for fetal treatment. All cases of group B showed progressive respiratory symptoms a few days after birth which were successfully treated surgically. In 2 of 3 cases of group C, the lesions decreased in size both antenatally and postnatally. We conclude that serial sonographic evaluations for fetal CCAM are important. If the fetus develops hydrops, fetal surgery is to be considered. If not, however, fetal surgery should not be done, because some lesions can shrink in size, or even disappear, while others can be treated successfully after birth by lobectomy or even segmentectomy.

ISSN:1015-3837    

DOI:10.1159/000264265

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Fetal growth restriction with oligohydramnios occurring in the preterm gestation is associated with significant fetal morbidity and mortality. We investigated the possibility that transabdominal amnioinfusion might relieve acute cord compression and allow prolongation of gestation long enough to administer corticosteroids. Four patients with fetal growth restriction, oligohydramnios and evidence of significant cord compression with otherwise reassuring fetal heart rate testing underwent transabdominal amnioinfusion. Pregnancy was prolonged 22, 38, 10 and 9 days, and cord compression was relieved in all cases. One patient showed findings consistent with reversal of chronic hypoxemia with stabilization of amniotic fluid index measurements in the normal range and normalization of fetal growth. Transabdominal amnioinfusion may be useful as an adjunctive technique to prolong pregnancy in preterm gestations with fetal growth restriction, oligohydramnios and evidence of umbilical cord compression.

ISSN:1015-3837    

DOI:10.1159/000264266

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1015-3837    

DOI:10.1159/000264267

出版商:S. Karger AG    

年代:1995

数据来源: Karger