Fetal malformation Archives - Revista Brasileira de Ginecologia e Obstetrícia
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(1):31-37
DOI 10.1590/S0100-72032001000100005
Purpose: to evaluate the prognosis of fetal omphalocele after prenatal diagnosis. Methods: fifty-one cases with prenatal diagnosis of fetal omphalocele were divided into three groups: group 1, isolated omphalocele; group 2, omphalocele associated with structural abnormalities and normal karyotype; group 3, omphalocele with abnormal karyotype. The data were analyzed for overall survival rate and postsurgery survival, considering associated malformations, gestational age at delivery, birth weight and size of omphalocele. Results: group 1 corresponded to 21% (n = 11), group 2, 55% (n = 28) and group 3,24% (n = 12). All of Group 3 died, and trisomy 18 was the most frequent chromosomal abnormality. The survival rate was 80% for group 1 and 25% for group 2. Sixteen cases underwent surgery (10 isolated and 6 associated), 81% survived (8 isolated and 5 associated). The median birth weight was 3,140 g and 2,000 g for survivals and non-survivals after surgery, respectively (p = 0.148), and the corresponding gestational age at delivery was 37 and 36 weeks (p = 0.836). The ratio of omphalocele/abdominal circumference decreased with gestation, 0.88 between 25-29 weeks and 0.65 between 30-35 weeks (p = 0.043). The size of omphalocele was not significantly different between the 3 groups (p = 0.988), and it was not associated to postsurgery prognosis (p = 0.553). Conclusion: the overall and postsurgery survival rates were 25 and 81%, respectively. Associated malformations were the main prognostic factor in prenatally diagnosed omphaloceles, since they are associated with prematurity and low birth weight.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2001;23(1):31-37
DOI 10.1590/S0100-72032001000100005
Purpose: to evaluate the prognosis of fetal omphalocele after prenatal diagnosis. Methods: fifty-one cases with prenatal diagnosis of fetal omphalocele were divided into three groups: group 1, isolated omphalocele; group 2, omphalocele associated with structural abnormalities and normal karyotype; group 3, omphalocele with abnormal karyotype. The data were analyzed for overall survival rate and postsurgery survival, considering associated malformations, gestational age at delivery, birth weight and size of omphalocele. Results: group 1 corresponded to 21% (n = 11), group 2, 55% (n = 28) and group 3,24% (n = 12). All of Group 3 died, and trisomy 18 was the most frequent chromosomal abnormality. The survival rate was 80% for group 1 and 25% for group 2. Sixteen cases underwent surgery (10 isolated and 6 associated), 81% survived (8 isolated and 5 associated). The median birth weight was 3,140 g and 2,000 g for survivals and non-survivals after surgery, respectively (p = 0.148), and the corresponding gestational age at delivery was 37 and 36 weeks (p = 0.836). The ratio of omphalocele/abdominal circumference decreased with gestation, 0.88 between 25-29 weeks and 0.65 between 30-35 weeks (p = 0.043). The size of omphalocele was not significantly different between the 3 groups (p = 0.988), and it was not associated to postsurgery prognosis (p = 0.553). Conclusion: the overall and postsurgery survival rates were 25 and 81%, respectively. Associated malformations were the main prognostic factor in prenatally diagnosed omphaloceles, since they are associated with prematurity and low birth weight.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 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
Revista Brasileira de Ginecologia e Obstetrícia. 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.