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[Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing].
Zhonghua Fu Chan Ke Za Zhi. 2021 Jul 25; 56(7):458-466.ZF

Abstract

Objective:

To evaluate the value of whole exome sequencing (WES) in prenatal clinical application.

Methods:

A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed.

Results:

Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results.

Conclusions:

WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data.

Authors+Show Affiliations

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Guangdong Institute of Cardiovascular Disease, Guangdong Provincial People's Hospital, Guangzhou 510080, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

Pub Type(s)

Journal Article

Language

chi

PubMed ID

34304437

Citation

Fu, F, et al. "[Analysis of Families With Fetal Congenital Abnormalities but Negative Prenatal Diagnosis By Whole Exome Sequencing]." Zhonghua Fu Chan Ke Za Zhi, vol. 56, no. 7, 2021, pp. 458-466.
Fu F, Li LS, Du K, et al. [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing]. Zhonghua Fu Chan Ke Za Zhi. 2021;56(7):458-466.
Fu, F., Li, L. S., Du, K., Li, R., Yu, Q. X., Wang, D., Lei, T. Y., Deng, Q., Nie, Z. Q., Zhang, W. W., Yang, X., Han, J., Zhen, L., Pan, M., Zhang, L. N., Li, F. C., Zhang, Y. L., Jing, X. Y., Li, D. Z., & Liao, C. (2021). [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing]. Zhonghua Fu Chan Ke Za Zhi, 56(7), 458-466. https://doi.org/10.3760/cma.j.cn112141-20210118-00028
Fu F, et al. [Analysis of Families With Fetal Congenital Abnormalities but Negative Prenatal Diagnosis By Whole Exome Sequencing]. Zhonghua Fu Chan Ke Za Zhi. 2021 Jul 25;56(7):458-466. PubMed PMID: 34304437.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing]. AU - Fu,F, AU - Li,L S, AU - Du,K, AU - Li,R, AU - Yu,Q X, AU - Wang,D, AU - Lei,T Y, AU - Deng,Q, AU - Nie,Z Q, AU - Zhang,W W, AU - Yang,X, AU - Han,J, AU - Zhen,L, AU - Pan,M, AU - Zhang,L N, AU - Li,F C, AU - Zhang,Y L, AU - Jing,X Y, AU - Li,D Z, AU - Liao,C, PY - 2021/7/26/entrez PY - 2021/7/27/pubmed PY - 2021/7/28/medline SP - 458 EP - 466 JF - Zhonghua fu chan ke za zhi JO - Zhonghua Fu Chan Ke Za Zhi VL - 56 IS - 7 N2 - Objective: To evaluate the value of whole exome sequencing (WES) in prenatal clinical application. Methods: A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed. Results: Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results. Conclusions: WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data. SN - 0529-567X UR - https://www.unboundmedicine.com/medline/citation/34304437/[Analysis_of_families_with_fetal_congenital_abnormalities_but_negative_prenatal_diagnosis_by_whole_exome_sequencing]_ DB - PRIME DP - Unbound Medicine ER -