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Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray.

Abstract

OBJECTIVE

To assess the clinical value of prenatal diagnosis of fetuses with increased nuchal translucency (NT) using an approach based on quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray (CMA).

STUDY DESIGN

From January 2013 to October 2014, we included 175 pregnancies with fetal NT ≥ 3.5mm at 11-13 weeks' gestation who received chorionic villus sampling. QF-PCR was first used to rapidly detect common aneuploidies. The cases with a normal QF-PCR result were analyzed by CMA.

RESULTS

Of the 175 cases, common aneuploidies were detected by QF-PCR in 53 (30.2%) cases (30 cases of trisomy 21, 12 cases of monosomy X, 7 cases of trisomy 18, 3 cases of trisomy 13 and 1 case of 47, XXY). Among the 122 cases with a normal QF-PCR result, microarray detected additional pathogenic copy number variants (CNVs) in 5.7% (7/122) of cases. Four cases would have expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving three cases (2.5%; 3/118) with pathogenic CNVs only detectable by CMA.

CONCLUSION

It is rational to use a diagnostic strategy in which CMA is preceded by the less expensive, rapid, QF-PCR to detect common aneuploidies. CMA allows detection of a number of pathogenic chromosomal aberrations in fetuses with a high NT.

Authors+Show Affiliations

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: lidongzhi2013@aliyun.com.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26771907

Citation

Pan, Min, et al. "Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency Using an Approach Based On Quantitative Fluorescent Polymerase Chain Reaction and Genomic Microarray." European Journal of Obstetrics, Gynecology, and Reproductive Biology, vol. 197, 2016, pp. 164-7.
Pan M, Han J, Zhen L, et al. Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray. Eur J Obstet Gynecol Reprod Biol. 2016;197:164-7.
Pan, M., Han, J., Zhen, L., Yang, X., Li, R., Liao, C., & Li, D. Z. (2016). Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 197, pp. 164-7. doi:10.1016/j.ejogrb.2015.12.024.
Pan M, et al. Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency Using an Approach Based On Quantitative Fluorescent Polymerase Chain Reaction and Genomic Microarray. Eur J Obstet Gynecol Reprod Biol. 2016;197:164-7. PubMed PMID: 26771907.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray. AU - Pan,Min, AU - Han,Jin, AU - Zhen,Li, AU - Yang,Xin, AU - Li,Ru, AU - Liao,Can, AU - Li,Dong-Zhi, Y1 - 2015/12/30/ PY - 2015/08/04/received PY - 2015/11/28/revised PY - 2015/12/21/accepted PY - 2016/1/16/entrez PY - 2016/1/16/pubmed PY - 2016/11/3/medline KW - Chromosomal microarray (CMA) KW - Genomic imbalance KW - Nuchal translucency KW - Prenatal diagnosis KW - Quantitative fluorescent polymerase chain reaction (QF-PCR) SP - 164 EP - 7 JF - European journal of obstetrics, gynecology, and reproductive biology JO - Eur. J. Obstet. Gynecol. Reprod. Biol. VL - 197 N2 - OBJECTIVE: To assess the clinical value of prenatal diagnosis of fetuses with increased nuchal translucency (NT) using an approach based on quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray (CMA). STUDY DESIGN: From January 2013 to October 2014, we included 175 pregnancies with fetal NT ≥ 3.5mm at 11-13 weeks' gestation who received chorionic villus sampling. QF-PCR was first used to rapidly detect common aneuploidies. The cases with a normal QF-PCR result were analyzed by CMA. RESULTS: Of the 175 cases, common aneuploidies were detected by QF-PCR in 53 (30.2%) cases (30 cases of trisomy 21, 12 cases of monosomy X, 7 cases of trisomy 18, 3 cases of trisomy 13 and 1 case of 47, XXY). Among the 122 cases with a normal QF-PCR result, microarray detected additional pathogenic copy number variants (CNVs) in 5.7% (7/122) of cases. Four cases would have expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving three cases (2.5%; 3/118) with pathogenic CNVs only detectable by CMA. CONCLUSION: It is rational to use a diagnostic strategy in which CMA is preceded by the less expensive, rapid, QF-PCR to detect common aneuploidies. CMA allows detection of a number of pathogenic chromosomal aberrations in fetuses with a high NT. SN - 1872-7654 UR - https://www.unboundmedicine.com/medline/citation/26771907/Prenatal_diagnosis_of_fetuses_with_increased_nuchal_translucency_using_an_approach_based_on_quantitative_fluorescent_polymerase_chain_reaction_and_genomic_microarray_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0301-2115(15)00492-3 DB - PRIME DP - Unbound Medicine ER -