摘要:

During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48 %) with cleft lip and palate, in 5 of 11 (45%) with severe hypotelorism or cyclops, and in 6 of 19 (32%) with nasal hypoplasia, proboscis or single nostril. Macroglossia was mainly associated with trisomy 21 micrognathia with trisomy 18 and triploidy, facial cleft with trisomies 13 and 18, and ocular or nasal defects with trisomy 13. In all chromosomally abnormal fetuses with facial defects, there were additional multisystem defects, and the pattern of these malformations was compatible with the type of the underlying chromosomal abnormality. In the total series of 2,086 fetuses with malformations and/or growth retardation, there were 31 with trisomy 13, 83 with trisomy 18 and 69 with trisomy 21; facial defects were found in 71, 36 and 14% of these fetuses, respectively.

ISSN:1015-3837    

DOI:10.1159/000263740

出版商:S. Karger AG    

年代:1993

数据来源: Karger

ISSN:1015-3837    

DOI:10.1159/000263866

出版商:S. Karger AG    

年代:1993

数据来源: Karger

ISSN:1015-3837    

DOI:10.1159/000263867

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

There are limited data on the risks of aneuploidy for normal-appearing fetuses with amniotic fluid volume (AFV) abnormalities. The purpose of this study was to determine the relative risks of aneuploidy associated with second-trimester abnormal AFVs and fetal structural anomalies in a cohort of 2,823 singleton, viable fetuses. Compared to gravidas younger than 35 with normal ultrasounds, normal fetuses had an increased incidence of aneuploidy with polyhydramnios, increased AFV, i.e. subjectively increased but normal by maximum vertical pocket (MVP) and/or amniotic fluid index (AFI), oligohydramnios, and decreased AFV, i.e. subjectively decreased but normal by MVP and/or AFI. These included: increased AFV [odds ratio = 12.9, 95% confidence interval (CI) = 4.1-39.4], polyhydramnios (odds ratio = 4.6, CI = 0.6-36.8), and decreased AFV (odds ratio = 3.8, CI = 1.1-13.1). There were no aneuploidies among the 28 normal fetuses with oligohydramnios. Anomalous fetuses had a markedly increased incidence of aneuploidy (odds ratio = 13.4, CI = 7.2-24.9). We conclude that fetal structural anomalies as well as isolated AFV abnormalities were associated with an increased risk for aneuploidy.

ISSN:1015-3837    

DOI:10.1159/000263741

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

In 190 pregnancies undergoing cordocentesis for prenatal diagnosis (n = 174) or elective caesarean section (n = 16), fetal peripheral blood B lymphocyte subpopulations were measured using a fluorescence-activated cell sorter (FACScan). The total number of B lymphocytes and polyreactive CD 5+ B cells increased exponentially with gestation from respective means of 0.33 × 109/1 and 0.25 × 109/1 at 17 weeks to a plateau of 0.66 × 109/1 and 0.54 × 109 at 36 weeks, remaining at that level thereafter. The number of mature CD 10- and active CD23+ B lymphocytes increased linearly from a mean of 0.07 × 109/1 and 0.11 × 109/1 at 17 weeks to 0.24 × 109/1 and 0.37 × 109/l, respectively, at 40 weeks. As expected, all B lymphocytes expressed the HLA-DR antigen from as early as 16 weeks gestation. These alterations in specific B lymphocyte subpopulations reflect the pattern of maturation and development of the fetal humoral immune

ISSN:1015-3837    

DOI:10.1159/000263742

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Prenatal genetic services are currently available in all but a few states. The Council of Regional Networks for Genetic Services (CORN) has developed and implemented a data collection project to collect a minimum data set (MDS) on genetic services, including prenatal services, throughout the US. More than 400 reporting units were solicited for data in 1989, and approximately 240 (60%) responded. The CORN MDS Report for 1989 shows that more than 124,000 prenatal patients received services in the reporting centers. These individuals received almost 303,000 individual prenatal clinical services and accounted for more than 481,000 laboratory tests. Advanced maternal age was the primary indication for service in the vast majority of patients (62%). Based on data from the two major proficiency testing programs for laboratories performing screening tests for maternal serum α-fetoprotein (MSAFP), it is estimated that 50% of the pregnancies in the US are screened for MSAFP. The CORN database provides the only data available for the rapidly expanding area of genetic services. Therefore, it provides a unique resource for evaluating progress toward the Healthy People 2000 objectives regarding genetic services

ISSN:1015-3837    

DOI:10.1159/000263870

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The concentration of α2HS-glycoprotein (α2HS), a human homologue of the fetal protein fetuin, has been measured in plasma and cerebrospinal fluid (CSF) of fetuses from 14 to 37 weeks of gestation and in cord blood from newborn babies. The levels were highest in both plasma and CSF in the younger fetuses, but even in the newborn the concentration of α2HS in plasma was nearly twice the adult level. Two of six fetuses in the 14- to 19-week group had levels of HS over 200 mg/l00 ml, which is similar to the levels of fetuin in some fetal anima

ISSN:1015-3837    

DOI:10.1159/000263743

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17–19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17–29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17–19 weeks of gestation can help in the prenatal detection of the di

ISSN:1015-3837    

DOI:10.1159/000263744

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Two cases of fetal tachyarrhythmias were treated in utero. One case showed supraventricular tachycardia which was successfully treated with procainamide. The other case was an atrial flutter with 2:1 atrioventricular conduction (AVC) which was treated with digoxin and verapamil. In both cases, the blood flow in the descending aorta was observed using pulsed Doppler ultrasound during therapy. In the first case, the interval of blood flow peaks was suddenly prolonged to normal heart rate, and in the second case, the blood flow peaks appeared irregularly which indicated that (AVC) was intermittently blocked. The blood flow pattern represented the mode of cardioversion. The blood flow velocity was also measured in both cases; it decreased transiently during therapy representing a depression in cardiac function. The cause of this was thought to be the negative inotropic effects of procainamide and verapamil. In spite of these negative inotropic effects, a greater R-R interval means a greater stroke volume. This relationship has a favorable effect on the fetal circulation as a result of therapy for fetal tachyarrhythmias.

ISSN:1015-3837    

DOI:10.1159/000263745

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Analysis of current law demonstrates that the responses of state and federal governments and the legal system to reproductive genetic testing both have shaped the development of and reflect society’s views about these techniques. Access to testing has been increased by governmental provision of services and enactment of insurance requirements and by the state courts’ frequent approval of individual litigants’ claims that they were inappropriately denied genetic information. Many state legislatures, however, have tried to limit testing by failing to provide funds, by forbidding private lawsuits and by limiting access to abo

ISSN:1015-3837    

DOI:10.1159/000263872

出版商:S. Karger AG    

年代:1993

数据来源: Karger