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Rev Bras Ginecol Obstet. 2005;27(3):125-129
DOI 10.1590/S0100-72032005000300005
BACKGROUND: patients with primary amenorrhea and gonadal dysgenesia have higher serum gonadotrophins and should be submitted to chromosome studies. Karyotype studies may be performed in gonadal tissue or peripheral blood however, it is not yet established if cases of primary amenorrhea without signs of virilization need additional investigation of gonadal karyotype. PURPOSE: to analize the gonadal karyotypes (ovaries) from patients with primary amenorrhea and compare them to their respective peripheral blood karyotypes. METHODS: clinical and karyotype data of 12 patients were retrospectively analyzed from January 1997 to December 2003. RESULTS: when the investigation was indicated for primary amenorrhea without signs of virilization, the gonadal and peripheral blood karyotypes were concordant in 8 cases (7 cases 46XX and 1 case 46XY). One patient with virilization signs was the only case of discordant karyotype. CONCLUSION: the present study suggests that the gonadal karyotype does not bring additional information to peripheral blood karyotype in patients with amenorrhea and no signs of virilization. Although all previous studies had a small number of patients, it seems advisable to investigate the gonadal karyotype in patients with signs of virilization. The cost-benefit analysis could allow cost and stress reduction for patients, family and institutions.
Summary
Rev Bras Ginecol Obstet. 2005;27(3):125-129
DOI 10.1590/S0100-72032005000300005
BACKGROUND: patients with primary amenorrhea and gonadal dysgenesia have higher serum gonadotrophins and should be submitted to chromosome studies. Karyotype studies may be performed in gonadal tissue or peripheral blood however, it is not yet established if cases of primary amenorrhea without signs of virilization need additional investigation of gonadal karyotype. PURPOSE: to analize the gonadal karyotypes (ovaries) from patients with primary amenorrhea and compare them to their respective peripheral blood karyotypes. METHODS: clinical and karyotype data of 12 patients were retrospectively analyzed from January 1997 to December 2003. RESULTS: when the investigation was indicated for primary amenorrhea without signs of virilization, the gonadal and peripheral blood karyotypes were concordant in 8 cases (7 cases 46XX and 1 case 46XY). One patient with virilization signs was the only case of discordant karyotype. CONCLUSION: the present study suggests that the gonadal karyotype does not bring additional information to peripheral blood karyotype in patients with amenorrhea and no signs of virilization. Although all previous studies had a small number of patients, it seems advisable to investigate the gonadal karyotype in patients with signs of virilization. The cost-benefit analysis could allow cost and stress reduction for patients, family and institutions.
Summary
Rev Bras Ginecol Obstet. 2012;34(7):310-315
DOI 10.1590/S0100-72032012000700004
PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
Summary
Rev Bras Ginecol Obstet. 2012;34(7):310-315
DOI 10.1590/S0100-72032012000700004
PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
Summary
Rev Bras Ginecol Obstet. 2015;37(7):333-338
DOI 10.1590/S0100-720320150005373
To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition.
A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05).
Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively.
Many fetal malformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.
Summary
Rev Bras Ginecol Obstet. 2015;37(7):333-338
DOI 10.1590/S0100-720320150005373
To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition.
A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05).
Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively.
Many fetal malformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.