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Rev Bras Ginecol Obstet. 2002;24(2):121-127
DOI 10.1590/S0100-72032002000200008
Purpose: to estimate the performance of ultrasound to detect gestations at risk for fetal chromosomal abnormalities. Methods: four hundred and thirty-six patients selected for the study had undergone ultrasound examination and fetal karyotyping, between March 1993 and March 1998. Two hundred and seventy-seven patients had fetal karyotype for fetal malformation detected on ultrasound and 158 for parental anxiety with normal ultrasound examination. Ultrasound sensitivity and specificity were calculated using fetal karyotype as gold standard. The relative risk for each chromosomal abnormality was calculated according to the altered system on ultrasound examination and the risks of the presence of one or more abnormalities on ultrasound, using the Epi-Info 6.0 software package for statistical analysis. Results: the relative risks for chromosomal abnormalities were 89 for face malformations, 53 for abdominal wall and cardiovascular, 49.6 for neck, 44.6 for extremities, 42.4 for lung, 32.7 for gastrointestinal tract, 27.4 for central nervous system and 23.0 for urinary tract malformations. The relative risk for fetal chromosomal anomalies for genital, thorax, spine and muscle and/or skeletal malformations was not appropriate for calculation because they occurred at very low frequencies. An isolated malformation detected by ultrasound is associated with a 7.8 times higher relative risk for chromosomal anomalies than none, and associated morphologic malformations have a 33.8 times higher relative risk for chromosomal abnormalities. Conclusion: ultrasound has good performance to detect gestations at risk for chromosomal abnormalities.
Summary
Rev Bras Ginecol Obstet. 2002;24(2):121-127
DOI 10.1590/S0100-72032002000200008
Purpose: to estimate the performance of ultrasound to detect gestations at risk for fetal chromosomal abnormalities. Methods: four hundred and thirty-six patients selected for the study had undergone ultrasound examination and fetal karyotyping, between March 1993 and March 1998. Two hundred and seventy-seven patients had fetal karyotype for fetal malformation detected on ultrasound and 158 for parental anxiety with normal ultrasound examination. Ultrasound sensitivity and specificity were calculated using fetal karyotype as gold standard. The relative risk for each chromosomal abnormality was calculated according to the altered system on ultrasound examination and the risks of the presence of one or more abnormalities on ultrasound, using the Epi-Info 6.0 software package for statistical analysis. Results: the relative risks for chromosomal abnormalities were 89 for face malformations, 53 for abdominal wall and cardiovascular, 49.6 for neck, 44.6 for extremities, 42.4 for lung, 32.7 for gastrointestinal tract, 27.4 for central nervous system and 23.0 for urinary tract malformations. The relative risk for fetal chromosomal anomalies for genital, thorax, spine and muscle and/or skeletal malformations was not appropriate for calculation because they occurred at very low frequencies. An isolated malformation detected by ultrasound is associated with a 7.8 times higher relative risk for chromosomal anomalies than none, and associated morphologic malformations have a 33.8 times higher relative risk for chromosomal abnormalities. Conclusion: ultrasound has good performance to detect gestations at risk for chromosomal abnormalities.
Summary
Rev Bras Ginecol Obstet. 2011;33(4):153-156
DOI 10.1590/S0100-72032011000400001
Summary
Rev Bras Ginecol Obstet. 2011;33(4):153-156
DOI 10.1590/S0100-72032011000400001
Summary
Rev Bras Ginecol Obstet. 2010;32(4):163-168
DOI 10.1590/S0100-72032010000400003
PURPOSE: to evaluate the effectiveness of the IUGR model by uterine artery ligation mimicking placental insufficiency in rats. METHODS: sprague-Dawley rat fetuses were divided into three groups: IUGR (intrauterine growth restriction), with fetuses in the right horn of pregnant rats subjected to right uterine artery ligation at 18.5 days of gestation (term = 22 days); C-IUGR (control of restriction), with control fetuses in the left horn, and EC (external control), with fetuses of intact rats. Animals were harvested by cesarean section at day 21.5 days of gestation. Fetuses were weighed and then sacrificed. The intestine, liver, kidney and placenta were weighed and dissected for morphometric and histological analysis. RESULTS: the morphometric data showed decreased body weight (BW), liver weight (LW) and intestinal weight (IW) of fetuses with IUGR compared to C-IUGR and EC (p<0.001). The placental weight (PW), renal weight (RW) and LW/BW, IW/BW, and RW/BW ratios did not change. IUGR fetuses had decreased kidney thickness (p<0.001) and decreased thickness of the intestinal mucosa and submucosa (p<0.05). Histological evaluation showed reduction of liver glycogen storage in fetuses with IUGR compared to C-IUGR and CE. CONCLUSIONS: the model described was efficient and caused symmetric fetal IUGR with decreased size of most organs, especially the liver, and changes in glycogen stores.
Summary
Rev Bras Ginecol Obstet. 2010;32(4):163-168
DOI 10.1590/S0100-72032010000400003
PURPOSE: to evaluate the effectiveness of the IUGR model by uterine artery ligation mimicking placental insufficiency in rats. METHODS: sprague-Dawley rat fetuses were divided into three groups: IUGR (intrauterine growth restriction), with fetuses in the right horn of pregnant rats subjected to right uterine artery ligation at 18.5 days of gestation (term = 22 days); C-IUGR (control of restriction), with control fetuses in the left horn, and EC (external control), with fetuses of intact rats. Animals were harvested by cesarean section at day 21.5 days of gestation. Fetuses were weighed and then sacrificed. The intestine, liver, kidney and placenta were weighed and dissected for morphometric and histological analysis. RESULTS: the morphometric data showed decreased body weight (BW), liver weight (LW) and intestinal weight (IW) of fetuses with IUGR compared to C-IUGR and EC (p<0.001). The placental weight (PW), renal weight (RW) and LW/BW, IW/BW, and RW/BW ratios did not change. IUGR fetuses had decreased kidney thickness (p<0.001) and decreased thickness of the intestinal mucosa and submucosa (p<0.05). Histological evaluation showed reduction of liver glycogen storage in fetuses with IUGR compared to C-IUGR and CE. CONCLUSIONS: the model described was efficient and caused symmetric fetal IUGR with decreased size of most organs, especially the liver, and changes in glycogen stores.
Summary
Rev Bras Ginecol Obstet. 2000;22(4):217-223
DOI 10.1590/S0100-72032000000400005
Purpose: to identify recurrent spontaneous abortion- associated factors. Subjects: one hundred seventy-five outpatients were investigated from March 1993 to March 1997 at the "Ambulatório de Aborto Recorrente CAISM/UNICAMP". All of them had had three or more consecutive spontaneous abortions and/or two abortions and were 35 years or more old. Methods: the investigation protocol included: couple's karyotype; hysterosalpingography, serial plasma progesterone levels and/or endometrial biopsy; toxoplasmosis, listeriosis, brucelosis, lues and cytomegalovirus serum tests; Chlamydia trachomatis and Mycoplasma hominis cultures of cervical discharge; TSH and thyroid hormone levels; fasting glucose; autoantibody panel, anti-HLA antibody search by microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Husband's evaluation included: physical evaluation, lues, Chagas' disease, B and C hepatitis and AIDS serum tests, microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Results: alloimmune etiology was the most frequently found factor (86.3% of studied patients), represented by negative crossmatch and one-way mixed lymphocyte culture with inhibitor factor below 50%. The second most frequently found factor was cervical incompetence (22.8%), followed by hormonal factor (21.2%), mainly represented by luteal insufficiency. Some patients were found to have more than one etiologic factor. Conclusion: the investigation of recurrent spontaneous abortion-associated factors must include alloimmune etiology. Most cases will remain unexplained without this investigation.
Summary
Rev Bras Ginecol Obstet. 2000;22(4):217-223
DOI 10.1590/S0100-72032000000400005
Purpose: to identify recurrent spontaneous abortion- associated factors. Subjects: one hundred seventy-five outpatients were investigated from March 1993 to March 1997 at the "Ambulatório de Aborto Recorrente CAISM/UNICAMP". All of them had had three or more consecutive spontaneous abortions and/or two abortions and were 35 years or more old. Methods: the investigation protocol included: couple's karyotype; hysterosalpingography, serial plasma progesterone levels and/or endometrial biopsy; toxoplasmosis, listeriosis, brucelosis, lues and cytomegalovirus serum tests; Chlamydia trachomatis and Mycoplasma hominis cultures of cervical discharge; TSH and thyroid hormone levels; fasting glucose; autoantibody panel, anti-HLA antibody search by microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Husband's evaluation included: physical evaluation, lues, Chagas' disease, B and C hepatitis and AIDS serum tests, microlymphocytotoxicity crossmatch and one-way mixed lymphocyte culture with inhibitor factor detection. Results: alloimmune etiology was the most frequently found factor (86.3% of studied patients), represented by negative crossmatch and one-way mixed lymphocyte culture with inhibitor factor below 50%. The second most frequently found factor was cervical incompetence (22.8%), followed by hormonal factor (21.2%), mainly represented by luteal insufficiency. Some patients were found to have more than one etiologic factor. Conclusion: the investigation of recurrent spontaneous abortion-associated factors must include alloimmune etiology. Most cases will remain unexplained without this investigation.
Summary
Rev Bras Ginecol Obstet. 2007;29(5):235-240
DOI 10.1590/S0100-72032007000500003
PURPOSE: to establish the prevalence of thrombophilic factors in infertile women. METHODS: a cross-sectional study was performed, in which infertile women, seen in a private clinic with investigation for thrombophilia were included, according to the protocol of the clinic, between March 2003 and March 2005, after the approval of the Research Ethics Committee of the Universidade Estadual de Campinas (UNICAMP). One hundred and forty-four infertile women without any liver disease were evaluated. Infertility is defined as one year of unprotected sexual intercourse without conception. The acquired and/or inherited thrombophilic factors investigated were: anticardiolipin antibody (aCL), lupus anticoagulant (LA), protein C deficiency (PCD), protein S deficiency (PSD), antithrombin III deficiency (ATD), presence of the factor V Leiden, mutation G20 210A in the prothrombin gene, and C677T mutation of methylene tetrahydrofolate reductase (MTHFR). RESULTS: the prevalence values obtained for aCL and LA were 2%. The prevalence of the hereditary thrombophilic factors were: PCD=4%, PSD=6%, ATD=5%, factor V Leiden=3%, prothrombin mutation=3%, MTHFR mutation=57%. Conclusions: of the 144 patients selected, 105 women (72.9%) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.
Summary
Rev Bras Ginecol Obstet. 2007;29(5):235-240
DOI 10.1590/S0100-72032007000500003
PURPOSE: to establish the prevalence of thrombophilic factors in infertile women. METHODS: a cross-sectional study was performed, in which infertile women, seen in a private clinic with investigation for thrombophilia were included, according to the protocol of the clinic, between March 2003 and March 2005, after the approval of the Research Ethics Committee of the Universidade Estadual de Campinas (UNICAMP). One hundred and forty-four infertile women without any liver disease were evaluated. Infertility is defined as one year of unprotected sexual intercourse without conception. The acquired and/or inherited thrombophilic factors investigated were: anticardiolipin antibody (aCL), lupus anticoagulant (LA), protein C deficiency (PCD), protein S deficiency (PSD), antithrombin III deficiency (ATD), presence of the factor V Leiden, mutation G20 210A in the prothrombin gene, and C677T mutation of methylene tetrahydrofolate reductase (MTHFR). RESULTS: the prevalence values obtained for aCL and LA were 2%. The prevalence of the hereditary thrombophilic factors were: PCD=4%, PSD=6%, ATD=5%, factor V Leiden=3%, prothrombin mutation=3%, MTHFR mutation=57%. Conclusions: of the 144 patients selected, 105 women (72.9%) presented at least one thrombophilic factor. This reinforces the importance and justifies the need of investigation in this group.
Summary
Rev Bras Ginecol Obstet. 2011;33(5):246-251
DOI 10.1590/S0100-72032011000500007
PURPOSE: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. CONCLUSIONS: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Summary
Rev Bras Ginecol Obstet. 2011;33(5):246-251
DOI 10.1590/S0100-72032011000500007
PURPOSE: to evaluate the prevalence of cytogenetic alterations and chromosomic polymorphism in couples with a subfertility phenotype in a Brazilian population. METHODS: karyotype analysis through G and C banding of 1,236 individuals who presented the subfertility phenotype, from two different centers (public and private) were included in the study. These patients were classified in two sub-groups: one with two or more gestational consecutive losses or not and the o with, at least, one gestacional loss or absence of conception. Karyotype results were evaluated in different groups and frequencies were calculated. Statistical analyses were carried out through Fisher's exact test and Odds Ratio analysis. RESULTS: approximately 25% of the cases presented abnormal karyotype results, including numerical and structural alterations and also polymorphic variants. In both centers, the prevalence of polymorphic variants was 8.9 and 3.8%, respectively. CONCLUSIONS: there was no significant difference between the prevalence of polymorphic variants and other abnormalities in individuals with or without previous history of reproductive loss. The results of the present study reinforce the need of adequate disclosure of complete cytogenetic information in the karyotype results, with specific attention in relation to the polymorphic variants.
Summary
Rev Bras Ginecol Obstet. 2010;32(6):260-266
DOI 10.1590/S0100-72032010000600002
PURPOSE: to describe the maternal complications due to therapeutic endoscopic procedures in fetal Medicine performed at an university center in Brazil. METHODS: retrospective observational study including patients treated from April 2007 to May 2010 who underwent laser ablation of placental vessels (LAPV) for severe twin-twin transfusion syndrome (TTTS); fetal tracheal occlusion (FETO) and endoscopic removal of tracheal balloon in cases of severe congenital diaphragmatic hernia (CDH); LAPV with or without bipolar coagulation of the umbilical cord in cases of twin reversed arterial perfusion (TRAP) sequence. The main variables described for each disease/type of surgery were maternal complications and neonatal survival (discharge from nursery). RESULTS: fifty-six patients underwent 70 procedures: Severe TTTS (34 patients; 34 surgeries); severe CDH (16 patients; 30 surgeries), and TRAP sequence (6 patients; 6 surgeries). Among 34 women who underwent LAPV for TTTS, two (2/34=5.9%) experienced amniotic fluid leakage to the peritoneal cavity and seven (7/34=20.6%) miscarried after the procedure. Survival of at least one twin was 64.7% (22/34). Among 30 interventions performed in cases of CDH, there was amniotic fluid leakage into the maternal peritoneal cavity in one patient (1/30=3.3%) and premature preterm rupture of membranes after three (3/30=30%) fetoscopies for removal of the tracheal balloon. Infant survival with discharge from nursery was 43.8% (7/16). Among six cases of TRAP sequence, there was bleeding into the peritoneal cavity after surgery in one patient (1/6=16.7%) and neonatal survival with discharge from nursery was 50% (3/6). CONCLUSIONS: in agreement with the available data in literature, at our center, the benefits related to therapeutic endoscopic interventions for TTTS, CDH and TRAP sequence seem to overcome the risks of maternal complications, which were rarely considered severe.
Summary
Rev Bras Ginecol Obstet. 2010;32(6):260-266
DOI 10.1590/S0100-72032010000600002
PURPOSE: to describe the maternal complications due to therapeutic endoscopic procedures in fetal Medicine performed at an university center in Brazil. METHODS: retrospective observational study including patients treated from April 2007 to May 2010 who underwent laser ablation of placental vessels (LAPV) for severe twin-twin transfusion syndrome (TTTS); fetal tracheal occlusion (FETO) and endoscopic removal of tracheal balloon in cases of severe congenital diaphragmatic hernia (CDH); LAPV with or without bipolar coagulation of the umbilical cord in cases of twin reversed arterial perfusion (TRAP) sequence. The main variables described for each disease/type of surgery were maternal complications and neonatal survival (discharge from nursery). RESULTS: fifty-six patients underwent 70 procedures: Severe TTTS (34 patients; 34 surgeries); severe CDH (16 patients; 30 surgeries), and TRAP sequence (6 patients; 6 surgeries). Among 34 women who underwent LAPV for TTTS, two (2/34=5.9%) experienced amniotic fluid leakage to the peritoneal cavity and seven (7/34=20.6%) miscarried after the procedure. Survival of at least one twin was 64.7% (22/34). Among 30 interventions performed in cases of CDH, there was amniotic fluid leakage into the maternal peritoneal cavity in one patient (1/30=3.3%) and premature preterm rupture of membranes after three (3/30=30%) fetoscopies for removal of the tracheal balloon. Infant survival with discharge from nursery was 43.8% (7/16). Among six cases of TRAP sequence, there was bleeding into the peritoneal cavity after surgery in one patient (1/6=16.7%) and neonatal survival with discharge from nursery was 50% (3/6). CONCLUSIONS: in agreement with the available data in literature, at our center, the benefits related to therapeutic endoscopic interventions for TTTS, CDH and TRAP sequence seem to overcome the risks of maternal complications, which were rarely considered severe.
Summary
Rev Bras Ginecol Obstet. 2009;31(6):273-278
DOI 10.1590/S0100-72032009000600002
PURPOSE: to evaluate the evolution of monochorionic-diamniotic twin pregnancies with and without the twin-twin transfusion syndrome (TTTS), followed up in an expectant way. METHODS: retrospective study in which the pregnancies with and without TTTS and with mild (Quintero's stage I) and severe (Quintero's stages II, III, IV and V) disease manifestations were compared according to extreme preterm delivery, neurological impairment and the twins' nursery discharge. The extreme preterm twins who had had TTTS, or not, were compared whether they had or not neurological impairment. The χ2 or Fisher's exact test were used. RESULTS: among 149 monochorionic-diamniotic twin pregnancies, 15 presented TTTS, 11 (11/15 - 73.3%) in the severe form and 4 (4/15 - 26.7%) at stage I. The extreme preterm delivery was more frequent (p<0.001) in the cases with the disease (11/15 - 73.3%) than in the cases without it (25/134 - 18.7%), and more common (p=0.033) in severe (10/11 - 91.1%) than in mild cases (1/4 - 25.0%). Neurological impairment in at least one twin was more frequent in cases with (5/8 - 62.5%) than in cases without (9/134 - 6.7%) the disease (p<0.001). Nursery discharge of at least one twin was more common (p<0.001) in cases without (132/134 - 98.5%) than in cases with the disease (8/15 - 53.0%). Neurological impairment in at least one of the twins was more frequent (p=0.04) in the severe (5/5 - 100%) than in the mild (1/4 - 25%) form of the disease. Nursery discharge of both twins was more common (p=0.004) at stage I (4/4 - 100%), than in the severe form of the disease (1/11 - 9.0%). Among the 47 extreme preterm twins, the neurological impairment was more frequent (p=0.001) among the ones who had (6/6 - 100%), than among those who did not have TTTS (11/41 - 26.8%). CONCLUSIONS: cases with twin-twin transfusion syndrome, followed up in an expectant way have bad perinatal prognosis, with high neonatal mortality and high rates of neurological arrest among the survivors.
Summary
Rev Bras Ginecol Obstet. 2009;31(6):273-278
DOI 10.1590/S0100-72032009000600002
PURPOSE: to evaluate the evolution of monochorionic-diamniotic twin pregnancies with and without the twin-twin transfusion syndrome (TTTS), followed up in an expectant way. METHODS: retrospective study in which the pregnancies with and without TTTS and with mild (Quintero's stage I) and severe (Quintero's stages II, III, IV and V) disease manifestations were compared according to extreme preterm delivery, neurological impairment and the twins' nursery discharge. The extreme preterm twins who had had TTTS, or not, were compared whether they had or not neurological impairment. The χ2 or Fisher's exact test were used. RESULTS: among 149 monochorionic-diamniotic twin pregnancies, 15 presented TTTS, 11 (11/15 - 73.3%) in the severe form and 4 (4/15 - 26.7%) at stage I. The extreme preterm delivery was more frequent (p<0.001) in the cases with the disease (11/15 - 73.3%) than in the cases without it (25/134 - 18.7%), and more common (p=0.033) in severe (10/11 - 91.1%) than in mild cases (1/4 - 25.0%). Neurological impairment in at least one twin was more frequent in cases with (5/8 - 62.5%) than in cases without (9/134 - 6.7%) the disease (p<0.001). Nursery discharge of at least one twin was more common (p<0.001) in cases without (132/134 - 98.5%) than in cases with the disease (8/15 - 53.0%). Neurological impairment in at least one of the twins was more frequent (p=0.04) in the severe (5/5 - 100%) than in the mild (1/4 - 25%) form of the disease. Nursery discharge of both twins was more common (p=0.004) at stage I (4/4 - 100%), than in the severe form of the disease (1/11 - 9.0%). Among the 47 extreme preterm twins, the neurological impairment was more frequent (p=0.001) among the ones who had (6/6 - 100%), than among those who did not have TTTS (11/41 - 26.8%). CONCLUSIONS: cases with twin-twin transfusion syndrome, followed up in an expectant way have bad perinatal prognosis, with high neonatal mortality and high rates of neurological arrest among the survivors.