Prenatal screening for trisomy 18 in the second trimester

1990 ◽  
Vol 10 (8) ◽  
pp. 546-548 ◽  
Author(s):  
J. A. Canick ◽  
G. E. Palomaki ◽  
R. Osathanondh
Keyword(s):  
Prenatal Screening ◽  
Trisomy 18 ◽  
Second Trimester

scholarly journals Evaluation of Maternal Serum sHLA-G Levels for Trisomy 18 Fetuses Screening at Second Trimester

2021 ◽  
Vol 11 ◽  
Author(s):  
Danping Xu ◽  
Yiyang Zhu ◽  
Lanfang Li ◽  
Yingping Xu ◽  
Weihua Yan ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Samples ◽  
Predictive Values ◽  
Second Trimester Screening ◽  
Β Hcg ◽  
Screening Marker

Human leukocyte antigen-G (HLA-G) has been widely acknowledged to play critical roles in fetal-maternal maintenance. However, the significance of using maternal serum sHLA-G to detect prenatal chromosomal abnormality has not been investigated. In China, prenatal screening using maternal α-fetoprotein (AFP), unconjugated estriol (uE3), and free β subunit human chorionic gonadotropin (β-hCG) in the second trimester has been widely applied. In this study, we evaluated the use of sHLA-G as a screening marker, compared with traditional second trimester prenatal screening. Serum samples from 1,019 singleton women in their second trimester were assessed. Among them, 139 infants were confirmed with trisomy 21 (T21) by karyotyping, 83 were confirmed with trisomy 18 (T18), and the remaining 797 infants had no abnormalities. The sHLA-G levels in maternal sera were significantly lower in pregnant women with T18 fetuses (median: 47.8 U/ml, range: 9.8–234.2 U/ml) and significantly higher in those with T21 fetuses (median: 125.7 U/ml, range: 28.7–831.7 U/ml), compared with the normal controls (median: 106.3 U/ml, range: 50.5–1136.4 U/ml) (p < 0.001). The risk values of the screening of T21 or T18 fetuses were assessed using mean and standard deviation log10 analyte multiples of median (MoM) which showed that the predictive values of sHLA-G were the same as free β-hCG, and superior to AFP and uE3 for T18 screening. Logistic regression analysis revealed that sHLA-G MoM was the highest risk factor associated with pregnant women carrying T18 fetuses [Exp(B): 171.26, 95% CI: 36.30–807.97, p < 0.001]. Receiver operating characteristic (ROC) analysis revealed that the area under ROC curve for sHLA-G MoM was 0.915 (95% CI, 0.871–0.959, p < 0.001), for AFP MoM was 0.796 (95% CI, 0.730–0.861, p < 0.001), for free β-hCG MoM was 0.881 (95% CI, 0.829–0.934, p < 0.001), and for uE3 MoM was 0.876 (95% CI, 0.828–0.923, p < 0.001) in the T18 group. sHLA-G MoM demonstrated the best sensitivity and negative predictive value. For the first time, our findings reveal that sHLA-G is a better second trimester screening marker for the detection of T18 fetuses and the combined application of sHLA-G with AFP, free β-hCG, and uE3 could improve clinical screening for T18 fetuses.

Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18

1999 ◽  
Vol 19 (5) ◽  
pp. 476-479 ◽  
Author(s):  
G. M. Lambert-Messerlian ◽  
D. N. Saller ◽  
M. B. Tumber ◽  
C. A. French ◽  
C. J. Peterson ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Maternal Serum ◽  
Trisomy 18 ◽  
Second Trimester ◽  
Serum Progesterone

Prenatal Screening Strategies for Down Syndrome: Many Options but Few Answers

1998 ◽  
Vol 4 (3) ◽  
pp. 229
Author(s):  
Euan M. Wallace
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
New South ◽  
South Australia ◽  
Nuchal Translucency ◽  
Second Trimester ◽  
Mental Handicap ◽  
South Wales ◽  
Screening Strategies ◽  
Serum Screening

Down syndrome is the single most common cause of severe mental handicap in Australia. Prenatal screening for Down syndrome is therefore an important component of modern antenatal care. However, while effective second trimester serum screening for Down syndrome has been available in Australia for almost a decade it appears that the majority of Australian women, particularly those outside South Australia and New South Wales, are still not offered it. Newer methods of screening have been recently described and are already being offered in routine clinical practice. These methods, including nuchal translucency, will afford results earlier in pregnancy than second trimester serum screening and so are attractive to women. However, available evidence suggests that nuchal translucency may not perform as well as second trimester serum screening and further evaluation of the newer screening strategies in an Australian population is urgently required. Alteration of practice prior to such an evaluation is simply not warranted at this time.

Ultrasonographic detection of the second-trimester fetus with trisomy 18 and trisomy 21

1990 ◽  
Vol 163 (4) ◽  
pp. 1186-1190 ◽  
Author(s):  
Norman Ginsberg ◽  
Alan Cadkin ◽  
Eugene Pergament ◽  
Yury Verlinsky
Keyword(s):  
Trisomy 21 ◽  
Trisomy 18 ◽  
Second Trimester

Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years

2010 ◽  
Vol 30 (11) ◽  
pp. 1094-1099 ◽  
Author(s):  
S. Lai ◽  
W. L. Lau ◽  
W. C. Leung ◽  
F. K. Lai ◽  
R. Chin
Keyword(s):  
Prenatal Screening ◽  
Trisomy 18 ◽  
Single Centre ◽  
Single Centre Experience

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

2018 ◽  
Vol 46 (9) ◽  
pp. 975-982 ◽  
Author(s):  
Ron Bardin ◽  
Eran Hadar ◽  
Lylach Haizler-Cohen ◽  
Rinat Gabbay-Benziv ◽  
Israel Meizner ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Prenatal Screening ◽  
Late Onset ◽  
Normal Karyotype ◽  
Screening Tests ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Second Trimester ◽  
Ultrasound Findings ◽  
Fetal Karyotype

AbstractObjective:To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.Design:Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.Results:All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).Conclusions:Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

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