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• W1963909746 abstract "Hacksaw and colleagues (Dec 21/28, p 1740)1Hacksaw AK Wald NJ Haddow JE Down's syndrome screening with nuchal translucency.Lancet. 1996; 348: 1740Summary Full Text Full Text PDF Scopus (16) Google Scholar are concerned that screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency might be introduced into routine practice before they do their own studies to assess this method and compare it with their quadruple test.Wald and colleagues measured inhibin-A in 77 samples (obtained 1973-83) from trisomy 21 pregnancies and 385 normal controls at 13–27 weeks of gestation. These samples had been used in previous studies and had undergone several freeze-thaw cycles. Wald and co-workers also measured inhibin in samples from 970 normal pregnancies in white women with known maternal weight, in whom gestation had been dated by ultrasound. On the basis of these data and with various statistical techniques they estimated that screening for trisomy 21 by a combination of maternal serum inhibin-A, α-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin, after adjusting for maternal weight in pregnancies dated by ultrasound, could identify 79% of affected fetuses, for a false positive rate of 5%. They concluded that the fourmarker test is the most effective method of Down's syndrome screening available for routine use.In a prospective continuing study involving 21 centres in the UK, 83 327 singleton pregnancies with live fetuses at 10–14 weeks of gestation have been examined so far. The first 61 972 completed pregnancies included 208 with trisomy 21; with a cut-off risk of 1 in 300, estimated from the maternal age and degree of fetal nuchal translucency, the sensitivity for detection of trisomy 21 was 84%. On the basis of the maternal age distribution of our population and the maternal age-related prevalence of trisomy 21 in livebirths, it was estimated that 150 babies with trisomy 21 would have been liveborn but for antenatal screening.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar In reality there were only 26 (13%) live births with trisomy 21 and nine of these were in the screen-positive group (risk more than 1 in 300) but the parents chose not to have prenatal diagnosis or decided to continue with the pregnancy despite the prenatal diagnosis. In addition there were 16 screen-negative pregnancies with trisomy 21 diagnosed antenatally. Even if all these cases had resulted in livebirths had the pregnancies not been terminated, then the live-birth prevalence of trisomy 21 would still have been reduced by at least 78% (117 of 150).Screening for chromosomal defects in the first, rather than second trimester, has the advantage of earlier diagnosis and less traumatic termination for couples who choose this option. A potential disadvantage is that earlier screening may preferentially identify those chromosomally abnormal pregnancies that are destined to miscarry. About 40% of affected fetuses die between 12 weeks of gestation and term.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar This issue of intrauterine lethality of chromosomal defects is of course a potential criticism of all methods of antenatal screening, including secondtrimester maternal serum biochemistry; the estimated rate of intrauterine lethality between 16 weeks and term is about 30%.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar Hacksaw and colleagues (Dec 21/28, p 1740)1Hacksaw AK Wald NJ Haddow JE Down's syndrome screening with nuchal translucency.Lancet. 1996; 348: 1740Summary Full Text Full Text PDF Scopus (16) Google Scholar are concerned that screening for trisomy 21 by a combination of maternal age and fetal nuchal translucency might be introduced into routine practice before they do their own studies to assess this method and compare it with their quadruple test. Wald and colleagues measured inhibin-A in 77 samples (obtained 1973-83) from trisomy 21 pregnancies and 385 normal controls at 13–27 weeks of gestation. These samples had been used in previous studies and had undergone several freeze-thaw cycles. Wald and co-workers also measured inhibin in samples from 970 normal pregnancies in white women with known maternal weight, in whom gestation had been dated by ultrasound. On the basis of these data and with various statistical techniques they estimated that screening for trisomy 21 by a combination of maternal serum inhibin-A, α-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin, after adjusting for maternal weight in pregnancies dated by ultrasound, could identify 79% of affected fetuses, for a false positive rate of 5%. They concluded that the fourmarker test is the most effective method of Down's syndrome screening available for routine use. In a prospective continuing study involving 21 centres in the UK, 83 327 singleton pregnancies with live fetuses at 10–14 weeks of gestation have been examined so far. The first 61 972 completed pregnancies included 208 with trisomy 21; with a cut-off risk of 1 in 300, estimated from the maternal age and degree of fetal nuchal translucency, the sensitivity for detection of trisomy 21 was 84%. On the basis of the maternal age distribution of our population and the maternal age-related prevalence of trisomy 21 in livebirths, it was estimated that 150 babies with trisomy 21 would have been liveborn but for antenatal screening.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar In reality there were only 26 (13%) live births with trisomy 21 and nine of these were in the screen-positive group (risk more than 1 in 300) but the parents chose not to have prenatal diagnosis or decided to continue with the pregnancy despite the prenatal diagnosis. In addition there were 16 screen-negative pregnancies with trisomy 21 diagnosed antenatally. Even if all these cases had resulted in livebirths had the pregnancies not been terminated, then the live-birth prevalence of trisomy 21 would still have been reduced by at least 78% (117 of 150). Screening for chromosomal defects in the first, rather than second trimester, has the advantage of earlier diagnosis and less traumatic termination for couples who choose this option. A potential disadvantage is that earlier screening may preferentially identify those chromosomally abnormal pregnancies that are destined to miscarry. About 40% of affected fetuses die between 12 weeks of gestation and term.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar This issue of intrauterine lethality of chromosomal defects is of course a potential criticism of all methods of antenatal screening, including secondtrimester maternal serum biochemistry; the estimated rate of intrauterine lethality between 16 weeks and term is about 30%.3Snijders RJM Sebire NJ Nicolaides KH Maternal age and gestational age specific risk for chromosomal defects.Fetal Diagn Ther. 1995; 10: 356-367Crossref PubMed Scopus (252) Google Scholar" @default.
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• W1963909746 title "Down's syndrome screening with nuchal translucency" @default.
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