prenatal diagnosis Archives - Page 4 of 6 - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(6):383-390
DOI 10.1590/S0100-72032001000600007
Purpose: to evaluate the ultrasonographic parameters associated with perinatal mortality increase in cases of fetal hydrocephalus. Method: 45 cases of fetal hydrocephalus were followed-up between January 1996 and December 1999. Fetal hydrocephalus was diagnosed when the ratio of lateral ventricles and the corresponding cerebral hemispheres was above 0.35 or when the measurement of the atrium of the lateral ventricles was above 10 mm. In all examinations the type of hydrocephalus, severity, symmetry, evolution and time of diagnosis were defined. The patients were submitted to morphologic ultrasound in the search of other anatomical abnormalities. The amniotic fluid index and fetal deaths were registered. The main ultrasonographic findings were correlated with perinatal mortality. For statistical analysis, chi² test and exact Fisher test were used. The value of p<0,05 was considered to be significant. Results: a total of 20 deaths were observed (44.4%), 6 occurred intra-uterus and 14 in the neonatal period. The diagnosis of hydrocephalus was established at a mean gestational age of 29 weeks. There was no association between perinatal mortality and alterations in the amniotic fluid volume, time of diagnosis, symmetry and type of hydrocephalus and the presence of other intra- or extracranial anomalies. On the other hand, the severity of the disease was associated significantly with perinatal death (p<0.0001). Conclusion: among all the analyzed ultrasonographic parameters, only the severity of hydrocephalus presented statistical association with perinatal death.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(6):383-390
DOI 10.1590/S0100-72032001000600007
Purpose: to evaluate the ultrasonographic parameters associated with perinatal mortality increase in cases of fetal hydrocephalus. Method: 45 cases of fetal hydrocephalus were followed-up between January 1996 and December 1999. Fetal hydrocephalus was diagnosed when the ratio of lateral ventricles and the corresponding cerebral hemispheres was above 0.35 or when the measurement of the atrium of the lateral ventricles was above 10 mm. In all examinations the type of hydrocephalus, severity, symmetry, evolution and time of diagnosis were defined. The patients were submitted to morphologic ultrasound in the search of other anatomical abnormalities. The amniotic fluid index and fetal deaths were registered. The main ultrasonographic findings were correlated with perinatal mortality. For statistical analysis, chi² test and exact Fisher test were used. The value of p<0,05 was considered to be significant. Results: a total of 20 deaths were observed (44.4%), 6 occurred intra-uterus and 14 in the neonatal period. The diagnosis of hydrocephalus was established at a mean gestational age of 29 weeks. There was no association between perinatal mortality and alterations in the amniotic fluid volume, time of diagnosis, symmetry and type of hydrocephalus and the presence of other intra- or extracranial anomalies. On the other hand, the severity of the disease was associated significantly with perinatal death (p<0.0001). Conclusion: among all the analyzed ultrasonographic parameters, only the severity of hydrocephalus presented statistical association with perinatal death.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):247-251
DOI 10.1590/S0100-72032001000400008
Purpose: to determine the feasibility of early ultrasonographic identification of fetal gender. Methods: a prospective study in a University Department of Obstetrics and Gynecology. A total of 592 women underwent ultrasonography at 11-14 weeks of gestation. Fetal gender was identified according to genital tubercle position (vertical or horizontal) at sagittal plane and confirmed at birth or by karyotype analysis. Results: the overall accuracy of correctly assigning fetal gender was 84%. The success of identification increased with gestational age, being 72%, 85% and 89% at 11, 12 and 13 weeks, respectively. The accuracy of correctly identifying fetal sex significantly changed with operator training, being 83.5% at the beginning and 93.6% at the end of the study. Conclusion: ultrasound determination of fetal gender is feasible, with good accuracy and may be of potential use to avoid invasive testing in family histories of X-linked disorders.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):247-251
DOI 10.1590/S0100-72032001000400008
Purpose: to determine the feasibility of early ultrasonographic identification of fetal gender. Methods: a prospective study in a University Department of Obstetrics and Gynecology. A total of 592 women underwent ultrasonography at 11-14 weeks of gestation. Fetal gender was identified according to genital tubercle position (vertical or horizontal) at sagittal plane and confirmed at birth or by karyotype analysis. Results: the overall accuracy of correctly assigning fetal gender was 84%. The success of identification increased with gestational age, being 72%, 85% and 89% at 11, 12 and 13 weeks, respectively. The accuracy of correctly identifying fetal sex significantly changed with operator training, being 83.5% at the beginning and 93.6% at the end of the study. Conclusion: ultrasound determination of fetal gender is feasible, with good accuracy and may be of potential use to avoid invasive testing in family histories of X-linked disorders.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):243-246
DOI 10.1590/S0100-72032001000400007
Purpose: to evaluate the possibility and accuracy of fetal karyotyping in pleural effusions. Methods: we studied fifteen fetuses with unilateral or bilateral pleural effusions. All of these fetuses underwent intrauterine thoracocentesis guided by ultrasound examinations. The gestational age varied from 19 to 34 weeks. A morphogenetic ultrasound examination was performed in each case by the authors in order to identify associated structural anomalies. When the cellular cultures of pleural effusion samples were negative, an alternative karyotype was obtained by cordocentesis. A fetal lymphocyte culture was made of pleural effusion samples for karyotype in a similar technique as for fetal blood. Results: the fetal karyotype was successful in 12 cases. There were 4 abnormal results, all of them were Down syndromes, and in the other 8 cases the chromosomal analyses were normal. The fetal karyotype was confirmed and compared by newborn blood chromosomal analysis, genetic evaluation or necropsy. There were no maternal or fetal side effects related to the procedure. Conclusions: the fetal karyotyping performed in pleural effusions obtained by intrauterine thoracocentesis proved to be highly efficient and safe. It must be the method of choice for rapid karyotyping in fetuses with pleural edema.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):243-246
DOI 10.1590/S0100-72032001000400007
Purpose: to evaluate the possibility and accuracy of fetal karyotyping in pleural effusions. Methods: we studied fifteen fetuses with unilateral or bilateral pleural effusions. All of these fetuses underwent intrauterine thoracocentesis guided by ultrasound examinations. The gestational age varied from 19 to 34 weeks. A morphogenetic ultrasound examination was performed in each case by the authors in order to identify associated structural anomalies. When the cellular cultures of pleural effusion samples were negative, an alternative karyotype was obtained by cordocentesis. A fetal lymphocyte culture was made of pleural effusion samples for karyotype in a similar technique as for fetal blood. Results: the fetal karyotype was successful in 12 cases. There were 4 abnormal results, all of them were Down syndromes, and in the other 8 cases the chromosomal analyses were normal. The fetal karyotype was confirmed and compared by newborn blood chromosomal analysis, genetic evaluation or necropsy. There were no maternal or fetal side effects related to the procedure. Conclusions: the fetal karyotyping performed in pleural effusions obtained by intrauterine thoracocentesis proved to be highly efficient and safe. It must be the method of choice for rapid karyotyping in fetuses with pleural edema.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):235-241
DOI 10.1590/S0100-72032001000400006
Purpose: to create a uterine height growth curve, according to gestational age, to verify differences among the existing curves and to evaluate the influence of color, parity and maternal weight on the variation of uterine height. Methods: during the period from July 1997 to July 1999, 100 normal pregnant women were submitted to uterine height measurements between the 20th and 42nd week of gestation. All the pregnant women had ultrasonically confirmed gestational age. A total of 726 measurements of uterine height were carried out by the same examiner, using a metric tape from the upper border of the symphysis pubis to the fundus uteri. Results: curves and tables of uterine height according to gestational age were obtained. The average uterine height growth was 0.7 cm/week. The study revealed different average uterine height values in relation to other uterine height growth curves. No statistically significant variations were found between the distributions of uterine heights according to color, parity and weight. Conclusion: the construction of a methodologically accepted uterine height growth curve aimed to detect, as a clinical method, the fetal growth disturbances. This should be analyzed in a posterior study.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(4):235-241
DOI 10.1590/S0100-72032001000400006
Purpose: to create a uterine height growth curve, according to gestational age, to verify differences among the existing curves and to evaluate the influence of color, parity and maternal weight on the variation of uterine height. Methods: during the period from July 1997 to July 1999, 100 normal pregnant women were submitted to uterine height measurements between the 20th and 42nd week of gestation. All the pregnant women had ultrasonically confirmed gestational age. A total of 726 measurements of uterine height were carried out by the same examiner, using a metric tape from the upper border of the symphysis pubis to the fundus uteri. Results: curves and tables of uterine height according to gestational age were obtained. The average uterine height growth was 0.7 cm/week. The study revealed different average uterine height values in relation to other uterine height growth curves. No statistically significant variations were found between the distributions of uterine heights according to color, parity and weight. Conclusion: the construction of a methodologically accepted uterine height growth curve aimed to detect, as a clinical method, the fetal growth disturbances. This should be analyzed in a posterior study.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(5):291-298
DOI 10.1590/S0100-72032001000500004
Objective: to study the value of Doppler velocimetry of the ductus venosus and of the umbilical artery and vein, in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Patients and Methods: a total of 314 fetuses were studied consecutively. In 112 cases a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus, and in 202 cases the postnatal phenotype was used as a basis for the result. In addition to the routine ultrasonographic examination, all the fetuses were submitted to measurement of the nuchal translucency thickness and to Doppler velocimetry of the umbilical artery and vein, particularly of the ductus venosus. For statistical analysis the Fisher exact test and the Mann-Whitney test were used. Results: twenty-three cases of chromosomal abnormalities occurred. Of these abnormal cases, the ductus venosus blood flow during atrial contraction was absent (1 case) and reverse (22 cases), sensitivity was 92%. In the group of normal fetuses (289 cases), 6 evaluations demonstrated alterations in the Doppler of the ductus venosus (specificity of 97.6%, positive and negative predictive values of 76.7% and 93.3%, respectively); the false-positive rate was 2.4%. In reference to the umbilical vein and umbilical artery, there was no statistically significant difference between the abnormal and the normal group. Conclusion: The only parameter of Doppler velocimetry of the umbilical artery and vein which contributed to the detection of aneuploidies was the accidental discovery of the reverse blood flow in both vessels. Although our favorable results demonstrated that the Doppler velocimetry of the ductus venosus is effective in detecting aneuploidies, this conclusion, however, is preliminary and needs further investigation.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(5):291-298
DOI 10.1590/S0100-72032001000500004
Objective: to study the value of Doppler velocimetry of the ductus venosus and of the umbilical artery and vein, in the screening for chromosomal abnormalities at 10-14 weeks of gestation. Patients and Methods: a total of 314 fetuses were studied consecutively. In 112 cases a cytogenetic study was performed on material obtained from a biopsy of the chorionic villus, and in 202 cases the postnatal phenotype was used as a basis for the result. In addition to the routine ultrasonographic examination, all the fetuses were submitted to measurement of the nuchal translucency thickness and to Doppler velocimetry of the umbilical artery and vein, particularly of the ductus venosus. For statistical analysis the Fisher exact test and the Mann-Whitney test were used. Results: twenty-three cases of chromosomal abnormalities occurred. Of these abnormal cases, the ductus venosus blood flow during atrial contraction was absent (1 case) and reverse (22 cases), sensitivity was 92%. In the group of normal fetuses (289 cases), 6 evaluations demonstrated alterations in the Doppler of the ductus venosus (specificity of 97.6%, positive and negative predictive values of 76.7% and 93.3%, respectively); the false-positive rate was 2.4%. In reference to the umbilical vein and umbilical artery, there was no statistically significant difference between the abnormal and the normal group. Conclusion: The only parameter of Doppler velocimetry of the umbilical artery and vein which contributed to the detection of aneuploidies was the accidental discovery of the reverse blood flow in both vessels. Although our favorable results demonstrated that the Doppler velocimetry of the ductus venosus is effective in detecting aneuploidies, this conclusion, however, is preliminary and needs further investigation.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(5):277-282
DOI 10.1590/S0100-72032001000500002
Objective: to test the effectiveness of the polymerase chain reaction (PCR) in the amniotic fluid for the detection of fetal contamination due to Toxoplasma gondii in pregnant women with acute infection and to correlate it with the inoculation technique and the histology of the placenta. Methods: thirty-seven patients were prospectively studied and the diagnosis was based on the identification of maternal acute infection followed by amniocentesis guided by ultrasound to obtain amniotic fluid for PCR and mice inoculation. The mothers were treated with spiramycin throughout pregnancy; when fetal infection was demonstrated, pyrimethamine and sulfadiazine were added to the regimen. The placentas were processed for histologic examination. The infants were followed for a period that varied from three to 23 months for the confirmation or exclusion of congenital toxoplasmosis. Results: association measures such as sensitivity, specificity and predictive values were calculated for PCR in the amniotic fluid, detection of the parasite through mice inoculation and placental histology and showed the following results: PCR values of sensitivity = 66.7% and specificity = 87.1%; the respective values for mice inoculation were 50 and 100% and for the placental histology were 80 and 66.7%. Conclusion: although PCR should not be used alone for the prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(5):277-282
DOI 10.1590/S0100-72032001000500002
Objective: to test the effectiveness of the polymerase chain reaction (PCR) in the amniotic fluid for the detection of fetal contamination due to Toxoplasma gondii in pregnant women with acute infection and to correlate it with the inoculation technique and the histology of the placenta. Methods: thirty-seven patients were prospectively studied and the diagnosis was based on the identification of maternal acute infection followed by amniocentesis guided by ultrasound to obtain amniotic fluid for PCR and mice inoculation. The mothers were treated with spiramycin throughout pregnancy; when fetal infection was demonstrated, pyrimethamine and sulfadiazine were added to the regimen. The placentas were processed for histologic examination. The infants were followed for a period that varied from three to 23 months for the confirmation or exclusion of congenital toxoplasmosis. Results: association measures such as sensitivity, specificity and predictive values were calculated for PCR in the amniotic fluid, detection of the parasite through mice inoculation and placental histology and showed the following results: PCR values of sensitivity = 66.7% and specificity = 87.1%; the respective values for mice inoculation were 50 and 100% and for the placental histology were 80 and 66.7%. Conclusion: although PCR should not be used alone for the prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(9):561-566
DOI 10.1590/S0100-72032001000900003
Purpose: to evaluate fetuses with facial cleft as to type of lesion, associated malformations and aneuploidies. Method: the following parameters were evaluated: maternal age and previous history, gestational age at diagnosis, lesion side, type of lesion, presence of associated malformations and aneuploidies, mortality rate and postnatal follow-up. Results: forty fetuses had facial cleft, 18 (45%) cases had cleft lip, 19 (47.5%) had cleft lip and palate, and 3 (7.5%) cases presented with cleft palate. Isolated facial cleft was observed in 10 fetuses (25%), all of them unilaterally located. Aneuploidies were identified in 10/30 (33.33%) of the patients with associated malformations. Cleft lip and palate was more often seen in this group (18/30 - 60%), followed by bilateral lesion (8/30 - 26.7%) and median cleft (10/30 - 33.3%). Conclusion: facial clefts are considered excellent signs for the presence of associated malformations and fetal aneuploidies. Fetuses with facial cleft must be referred to specialized centers in order to have specialized ultrasound and genetic analysis which can provide the best prenatal counseling for these cases. Isolated facial cleft was associated with very good prognosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(9):561-566
DOI 10.1590/S0100-72032001000900003
Purpose: to evaluate fetuses with facial cleft as to type of lesion, associated malformations and aneuploidies. Method: the following parameters were evaluated: maternal age and previous history, gestational age at diagnosis, lesion side, type of lesion, presence of associated malformations and aneuploidies, mortality rate and postnatal follow-up. Results: forty fetuses had facial cleft, 18 (45%) cases had cleft lip, 19 (47.5%) had cleft lip and palate, and 3 (7.5%) cases presented with cleft palate. Isolated facial cleft was observed in 10 fetuses (25%), all of them unilaterally located. Aneuploidies were identified in 10/30 (33.33%) of the patients with associated malformations. Cleft lip and palate was more often seen in this group (18/30 - 60%), followed by bilateral lesion (8/30 - 26.7%) and median cleft (10/30 - 33.3%). Conclusion: facial clefts are considered excellent signs for the presence of associated malformations and fetal aneuploidies. Fetuses with facial cleft must be referred to specialized centers in order to have specialized ultrasound and genetic analysis which can provide the best prenatal counseling for these cases. Isolated facial cleft was associated with very good prognosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(8):529-533
DOI 10.1590/S0100-72032001000800008
Purpose: to evaluate the relationship between bacterial vaginosis (BV) and spontaneous preterm delivery. Method: a total of 611 pregnant women from the general antenatal clinic of the "Clínica Obstétrica do Hospital das Clínicas da Universidade de São Paulo" were enrolled in this study. All pregnancies were dated by an early scan. Iatrogenic preterm deliveries were excluded. The presence of bacterial vaginosis was evaluated between 23 and 24 weeks of pregnancy by a Gram stain of the vaginal smear collected from the posterior vaginal wall using a sterile swab. Vaginal pH was also assessed from the lateral vaginal wall by a Universal 0-14 pH strip produced by Merck. Result: a complete follow-up was obtained in 551 patients and bacterial vaginosis was diagnosed in 103 (19%) cases. Among the patients with BV in the vaginal smear, 9.7% delivered before 37 weeks against only 3.2% in the group with normal vaginal smear (p=0.008). The sensitivity, specificity, accuracy and false-positive rate for preterm delivery in the presence of bacterial vaginosis on Gram stain of the vaginal smear were 41.7, 82, 80.2 and 18%, respectively, with a relative risk of 1.8 for preterm delivery. The mean vaginal pH in the group of positive BV was 4.9 and in the group with normal smear it was 4.3 (p=0.0001). Conclusion: bacterial vaginosis during pregnancy increases the risk for spontaneous preterm delivery, with a relative risk of 1.8.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(8):529-533
DOI 10.1590/S0100-72032001000800008
Purpose: to evaluate the relationship between bacterial vaginosis (BV) and spontaneous preterm delivery. Method: a total of 611 pregnant women from the general antenatal clinic of the "Clínica Obstétrica do Hospital das Clínicas da Universidade de São Paulo" were enrolled in this study. All pregnancies were dated by an early scan. Iatrogenic preterm deliveries were excluded. The presence of bacterial vaginosis was evaluated between 23 and 24 weeks of pregnancy by a Gram stain of the vaginal smear collected from the posterior vaginal wall using a sterile swab. Vaginal pH was also assessed from the lateral vaginal wall by a Universal 0-14 pH strip produced by Merck. Result: a complete follow-up was obtained in 551 patients and bacterial vaginosis was diagnosed in 103 (19%) cases. Among the patients with BV in the vaginal smear, 9.7% delivered before 37 weeks against only 3.2% in the group with normal vaginal smear (p=0.008). The sensitivity, specificity, accuracy and false-positive rate for preterm delivery in the presence of bacterial vaginosis on Gram stain of the vaginal smear were 41.7, 82, 80.2 and 18%, respectively, with a relative risk of 1.8 for preterm delivery. The mean vaginal pH in the group of positive BV was 4.9 and in the group with normal smear it was 4.3 (p=0.0001). Conclusion: bacterial vaginosis during pregnancy increases the risk for spontaneous preterm delivery, with a relative risk of 1.8.
