Cordocentesis for rapid karyotyping

Article Abstract:

Cordocentesis (percutaneous umbilical cord sampling) is a method of removing a small sample of fetal blood from the umbilical cord during pregnancy. Blood cells obtained during cordocentesis can be used to test for chromosomal abnormalities. The procedure is useful when ultrasonographic imaging (the use of high frequency sound to visualize internal structures) reveals an abnormality in the structure of the fetus. The blood cells can be analyzed for an abnormal number or configuration of chromosomes by rapid karyotyping. Rapid karyotyping, a method of determining the arrangement of chromosomes in descending order of size, was performed using blood samples obtained from 101 fetuses of 96 pregnant women at 15 to 38 weeks of pregnancy. Fetal white blood cells were grown in the laboratory and karyotyped within two to four days. A chromosomal abnormality was confirmed by rapid karyotyping in 12 fetuses (11.9 percent); five out of 44 fetuses had a structural abnormality, 3 out of 13 fetuses had a decreased amount of fluid surrounding the fetus and poor fetal growth, one out of three fetuses had nonimmune hydrops fetalis (a blood disease characterized by generalized swelling), 2 out of 10 sets of twins were of unequal-size, and in 1 out of 12 fetuses had a blood incompatibility. There were no chromosomal abnormalities in any of the eight fetuses having cordocentesis because of advanced maternal age, and in none of the fetuses with immune thrombocytopenia, an immune blood disease which reduces the amount of blood clotting platelets. It is concluded that cordocentesis is useful in obtaining incidental karyotype results. The technique is recommended to detect chromosomal abnormalities in pregnancies complicated by fetal structural abnormalities (particularly abnormalities in the kidneys, urinary tract, and abdomen), growth retardation, fetal swelling, and unequal-sized twins. If results are positive for disease, families may also benefit from counseling, and adjusted clinical management strategies can be planned. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Evaluation, Chromosome abnormalities, Karyotypes, Cordocentesis

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Preterm premature rupture of membranes: detection of infection

Article Abstract:

When the fetal membranes rupture before uterine contractions begin, complications and even fetal death often occur; these unfavorable events are more likely to occur if delivery is delayed or if infection develops. Identifying the infected fetus, or the fetus whose amniotic membranes have become infected, can be difficult. In this study, the possibility was explored that changes in fetal behavior during infection could be a sign that immediate delivery is needed. Ninety-nine patients with preterm premature rupture of the membranes, a gestational age less than 37 weeks, and a singleton pregnancy, were included. They were studied prospectively using a daily modified biophysical profile that included the measurement of fetal movements and fetal breathing. Cervical cultures were taken on admission to the hospital and the patients were treated with antibiotics until culture results became negative. Chorioamnionitis (infection of the fetal membranes) was diagnosed according to standard, predetermined criteria that included a maternal fever higher than 37.8 degrees Centigrade, increased maternal or fetal heart rate, uterine tenderness, and other factors. On average, each woman underwent nine examinations. Fourteen patients developed chorioamnionitis and four developed neonatal sepsis (infection in the newborn). Two patients developed both infections. When fetal movement was absent (as determined by a nonstress test), infection was always present, but the presence of fetal movement did not indicate that infection was not present. All four patients without fetal movement and fetal breathing were infected, three with fetal sepsis. Infection was also more likely in patients whose nonstress tests were initially normal but then became nonreactive. It is recommended that patients with absent fetal breathing and a nonreactive nonstress test be considered for immediate delivery. Daily monitoring of fetal behavior can help determine the presence of infection in women with preterm premature rupture of membranes. (Consumer Summary produced by Reliance Medical Information, Inc.)

Measurement, Complications and side effects, Diseases, Infants (Newborn), Premature rupture of membranes, Premature rupture of the membrane, Neonatal diseases, Chorioamnionitis, Fetal movement, Fetal movements

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Perinatal outcome in very preterm births with twin-twin transfusion syndrome

Article Abstract:

Twin to twin transfusion of blood can occur in births delivering before 28 weeks gestation. In twin to twin transfusion syndrome, one twin receives more blood than the other. Consequently, the other twin does not receive adequate blood supply for normal fetal growth and development. Of 48 twin pregnancies delivered before 28 weeks gestation, 20 percent had twin to twin transfusion syndrome. Half of the very premature infants and 70 percent of the small transfusion syndrome twins died. Twin to twin transfusion syndrome seems to be associated with very premature delivery. Ultrasound, the use of high frequency sound waves to visualize internal structures, can detect unequal growth patterns in twin gestations and may be useful in diagnosing twin to twin transfusion syndrome. Of the equal sized twins, only 12 percent had twin to twin transfusion syndrome; these cases may not have been detected by routine ultrasonographic evaluation. Fifty percent of the unequal sized twins did have twin to twin transfusion syndrome. The mortality rate of twin to twin transfusion syndrome small infants is not higher than that of very preterm infants. Therefore, the selective elimination of the smaller fetal twin (while inside the uterus) will not necessarily improve the mortality rate. Other treatment approaches should be considered for these high risk fetuses.

Patient outcomes, Mortality, Infants (Premature), Premature infants, Infant mortality, Fetofetal transfusion, Twins

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