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Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital.
Ultrasound Obstet Gynecol 2014; 44(1):17-24UO

Abstract

OBJECTIVES

To evaluate the performance of a massively parallel sequencing (MPS)-based test in detecting fetal sex chromosome aneuploidy (SCA) and to present a comprehensive clinical counseling protocol for SCA-positive patients.

METHODS

This was a retrospective study in a large patient cohort of 5950 singleton pregnancies which underwent MPS-based testing as a prenatal screening test for trisomies 21, 18 and 13, with X and Y chromosomes as secondary findings, in Southwest Hospital in China. MPS-based SCA-positive women were offered the choice of knowing whether their SCA results were positive and those who did commenced a two-stage post-test clinical counseling protocol. In Stage 1, general information about SCA was given, and women were given the option of invasive testing for confirmation of findings; in Stage 2, those who had chosen to undergo invasive testing were informed about the specific SCA affecting their fetus and their management options.

RESULTS

Thirty-three cases were classified as SCA-positive by MPS-based testing. After Stage 1 of the two-stage post-test clinical counseling session, 33 (100%) of these pregnant women chose to know the screening test results, and 25 (75.76%) underwent an invasive diagnostic procedure and karyotype analysis, in one of whom karyotyping failed. In thirteen cases, karyotyping confirmed the MPS-based test results (two X0 cases, seven XXX cases, three XXY cases and one XYY case), giving a positive predictive value of 54.17% (13/24 cases confirmed by karyotyping). After post-test clinical counseling session Stage 2, seven women chose to terminate the pregnancy: one X0 case, two XXX cases, the three XXY cases and the single XYY case. Six women decided to continue with pregnancy: one X0 case and five XXX cases.

CONCLUSION

Our study showed the feasibility of clinical application of the MPS-based test in the non-invasive detection of fetal SCA. Together with a two-stage post-test clinical counseling protocol, it leads to a well-informed decision-making procedure.

Authors+Show Affiliations

Prenatal Diagnosis Center, Department of Gynecology & Obstetrics, Southwest Hospital, the Third Military Medical University, Chongqing, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Evaluation Studies
Journal Article

Language

eng

PubMed ID

24616044

Citation

Yao, H, et al. "Detection of Fetal Sex Chromosome Aneuploidy By Massively Parallel Sequencing of Maternal Plasma DNA: Initial Experience in a Chinese Hospital." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 44, no. 1, 2014, pp. 17-24.
Yao H, Jiang F, Hu H, et al. Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital. Ultrasound Obstet Gynecol. 2014;44(1):17-24.
Yao, H., Jiang, F., Hu, H., Gao, Y., Zhu, Z., Zhang, H., ... Liang, Z. (2014). Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 44(1), pp. 17-24. doi:10.1002/uog.13361.
Yao H, et al. Detection of Fetal Sex Chromosome Aneuploidy By Massively Parallel Sequencing of Maternal Plasma DNA: Initial Experience in a Chinese Hospital. Ultrasound Obstet Gynecol. 2014;44(1):17-24. PubMed PMID: 24616044.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital. AU - Yao,H, AU - Jiang,F, AU - Hu,H, AU - Gao,Y, AU - Zhu,Z, AU - Zhang,H, AU - Wang,Y, AU - Guo,Y, AU - Liu,L, AU - Yuan,Y, AU - Zhou,L, AU - Wang,J, AU - Du,B, AU - Qu,N, AU - Zhang,R, AU - Dong,Y, AU - Xu,H, AU - Chen,F, AU - Jiang,H, AU - Liu,Y, AU - Zhang,L, AU - Tian,Z, AU - Liu,Q, AU - Zhang,C, AU - Pan,X, AU - Yang,S, AU - Zhao,L, AU - Wang,W, AU - Liang,Z, PY - 2013/10/08/received PY - 2014/02/21/revised PY - 2014/02/26/accepted PY - 2014/3/12/entrez PY - 2014/3/13/pubmed PY - 2015/3/31/medline KW - clinical counseling KW - fetal DNA KW - massively parallel sequencing KW - maternal serum KW - prenatal screening test KW - sex chromosome aneuploidy SP - 17 EP - 24 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 44 IS - 1 N2 - OBJECTIVES: To evaluate the performance of a massively parallel sequencing (MPS)-based test in detecting fetal sex chromosome aneuploidy (SCA) and to present a comprehensive clinical counseling protocol for SCA-positive patients. METHODS: This was a retrospective study in a large patient cohort of 5950 singleton pregnancies which underwent MPS-based testing as a prenatal screening test for trisomies 21, 18 and 13, with X and Y chromosomes as secondary findings, in Southwest Hospital in China. MPS-based SCA-positive women were offered the choice of knowing whether their SCA results were positive and those who did commenced a two-stage post-test clinical counseling protocol. In Stage 1, general information about SCA was given, and women were given the option of invasive testing for confirmation of findings; in Stage 2, those who had chosen to undergo invasive testing were informed about the specific SCA affecting their fetus and their management options. RESULTS: Thirty-three cases were classified as SCA-positive by MPS-based testing. After Stage 1 of the two-stage post-test clinical counseling session, 33 (100%) of these pregnant women chose to know the screening test results, and 25 (75.76%) underwent an invasive diagnostic procedure and karyotype analysis, in one of whom karyotyping failed. In thirteen cases, karyotyping confirmed the MPS-based test results (two X0 cases, seven XXX cases, three XXY cases and one XYY case), giving a positive predictive value of 54.17% (13/24 cases confirmed by karyotyping). After post-test clinical counseling session Stage 2, seven women chose to terminate the pregnancy: one X0 case, two XXX cases, the three XXY cases and the single XYY case. Six women decided to continue with pregnancy: one X0 case and five XXX cases. CONCLUSION: Our study showed the feasibility of clinical application of the MPS-based test in the non-invasive detection of fetal SCA. Together with a two-stage post-test clinical counseling protocol, it leads to a well-informed decision-making procedure. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/24616044/Detection_of_fetal_sex_chromosome_aneuploidy_by_massively_parallel_sequencing_of_maternal_plasma_DNA:_initial_experience_in_a_Chinese_hospital_ L2 - https://doi.org/10.1002/uog.13361 DB - PRIME DP - Unbound Medicine ER -