Turner Syndrome and Multiple-Marker Screening

Ruiz, Cristina; Lamm, Felicia; Hart, P. Suzanne

doi:10.1093/clinchem/45.12.2259

Cited by 24 publications

(13 citation statements)

References 11 publications

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“…However, in the second trimester, we found lower AFP and uE 3 levels and higher β‐hCG concentrations in affected pregnancies with TS when compared to unaffected pregnancies. These findings coincide with the results of several previous studies …”

Section: Discussionsupporting

confidence: 93%

“…Invasive testing in pregnant women older than 35 years of age and in women with a positive maternal serum screen result is recommended . Several studies have found that multiple biochemical markers may also identify fetal TS, but screening strategies have not been fully developed because of a low potential for detection . Although originally used to screen for aneuploidies, previous studies have described the association of abnormal maternal serum markers with fetal loss .…”

Section: Introductionmentioning

confidence: 99%

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Elevated second‐trimester maternal serum β‐human chorionic gonadotropin and amniotic fluid alpha‐fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome

Álvarez-Nava

Soto

Lanes

et al. 2015

J of Obstet and Gynaecol

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Section: Discussionsupporting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Elevated second‐trimester maternal serum β‐human chorionic gonadotropin and amniotic fluid alpha‐fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome

Álvarez-Nava

Soto

Lanes

et al. 2015

J of Obstet and Gynaecol

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“…Twenty studies included data on Turner syndrome, 6 that utilized the first trimester combined screen [ 19 , 23 , 26 , 30 , 49 , 51 ], 9 that used the second trimester triple screen [ 31 , 32 , 33 , 34 , 35 , 36 , 66 , 78 , 79 ], 4 that involved NIPT [ 40 , 42 , 43 , 45 ], and a single study that used the second trimester quadruple screen [ 76 ] ( Table 4 and Appendix B ).…”

Section: Resultsmentioning

confidence: 99%

Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening

Metcalfe

Hippman

Pastuck³

et al. 2014

JCM

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Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing had the highest detection (DR) and lowest false positive (FPR) rates for trisomy 13 (DR: 90.3%; FPR: 0.2%), trisomy 18 (DR: 98.1%; FPR: 0.2%), and 45,X (DR: 92.2%; FPR: 0.1%); however, most estimates came from high-risk samples. The first trimester combined test also had high DRs for all conditions studied (trisomy 13 DR: 83.1%; FPR: 4.4%; trisomy 18 DR: 91.9%; FPR: 3.5%; 45,X DR: 70.1%; FPR: 5.4%; triploidy DR: 100%; FPR: 6.3%). Second trimester triple screening had the lowest DRs and highest FPRs for all conditions (trisomy 13 DR: 43.9%; FPR: 8.1%; trisomy 18 DR: 70.5%; FPR: 3.3%; 45,X DR: 77.2%; FPR: 9.3%). Prenatal screening tests differ in their ability to accurately detect chromosomal anomalies. Patients should be counseled about the ability of prenatal screening to detect anomalies other than trisomy 21 prior to undergoing screening.

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“…Abnormal prenatal serum marker screening results with elevated levels of human chorionic gonadotropin and inhibin and slightly decreased levels of alpha fetoprotein and unconjugated estriol are associated with an increased likelihood of a Turner syndrome diagnosis. 10,11 If the patient reveals an apparently nonmosaic 45,X karyotype and has clitoromegaly or other masculinizing features, it is very likely that there is mosaicism for a Y chromosome containing cell line. FISH with probes for the X and Y centromeres should be performed on a minimum of 200 cells to detect low-level Y chromosome mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Turner’s Syndrome in Adulthood and Cytogenetics

Hossain

Nahar

Mahmoud

et al. 2014

Nepal j. obstet. gynaecol.

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Aims: Turner’s syndrome is a chronic disease of chromosomal aberration. The purpose of the study was to find out the accurate identification of cell line, which is critical for cytogenetic studies, genetic counseling, phenotypic studies carried out with few reconstructive procedures to plan future sexual and reproductive life. Methods: This study design was a prospective hospital based clinical study. In this study, ninety six patients were studied with secondary sex characters with relevant ultrasonogram findings and hormonal assay who underwent karyotyping in Bangabandhu Sheikh Mujib Medical University, Dhaka for a study period of ten years from October 1997 to October 2007. Results: Among 96 patients, 62.5 % of the patients were from 15-18 years. Four girls who were less than 15 years came with Turner’s and testicular stigmata. Twenty women aged more than 26 years presented with coital problems. Around 72.9% had no secondary sexual character, 20.83% had normal female type of secondary sex character, and 6.25% had virilizing type of secondary sexual character. Karyotyping of the cases revealed 72.9% (n = 70) had 45XO pattern, which belong to the Turner's stigmata and correlated well with the hormone profile. Whereas, 20.83% (n = 20) had 46XX pattern and 6.25% (n = 6) had 46XY pattern with testicular feminization syndrome with inguinal testis. Conclusions: About 60% of cases were in the 15-18 years age group. Most of the patients presented with no secondary sexual characteristics. 45XO chromosomal pattern was the most common presenting in 72.9% cases. DOI: http://dx.doi.org/10.3126/njog.v9i2.11744

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Turner Syndrome and Multiple-Marker Screening

Cited by 24 publications

References 11 publications

Elevated second‐trimester maternal serum β‐human chorionic gonadotropin and amniotic fluid alpha‐fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome

Elevated second‐trimester maternal serum β‐human chorionic gonadotropin and amniotic fluid alpha‐fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome

Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening

Turner’s Syndrome in Adulthood and Cytogenetics

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