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[Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing].
Zhonghua Fu Chan Ke Za Zhi. 2019 Apr 25; 54(4):221-225.ZF

Abstract

Objective:

To investigate pathogenic genes related to the phenotype of fetus with severely short limbs in the first and second trimester by whole exome sequencing (WES).

Methods:

Thirteen fetuses with severely short limbs detected by ultrasonography in the first and second trimester admitted in Chinese PLA General Hospital from September 2016 to June 2018 were collected. All cases were performed induced abortion, 6 of which were carried out karyotype analysis of amniotic fluid at the same time. WES and copy number variations (CNV) were performed on specimens from fetal tissues after labor induction. The suspected pathogenic mutations were validated by Sanger sequencing reactions.

Results:

No abnormal karyotypes or pathological CNV were found. In 10 fetuses, pathogenic or possibly pathogenic mutations were detected in the following genes: COL2A1, FGFR3, COL1A1, COL1A2, DYNC2LI1 and TRIP11, all of which were essential to skeletal development. The diagnostic yield of WES in the fetuses with severe short limbs was 10/13.

Conclusions:

In the first and second trimester, most of the fetuses with extremely short limbs suffer from monogenic diseases. WES is likely to be a valuable diagnostic testing option for the fetuses with severe short limbs.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.Department of Ultrasound, Chinese PLA General Hospital, Beijing 100853, China.Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing 100853, China.

Pub Type(s)

Journal Article

Language

chi

PubMed ID

31006186

Citation

Zhang, X Y., et al. "[Study of Genetic Etiology in Fetuses With Severely Short Limbs in the First and Second Trimester Using Whole Exome Sequencing]." Zhonghua Fu Chan Ke Za Zhi, vol. 54, no. 4, 2019, pp. 221-225.
Zhang XY, You YQ, Zhou HH, et al. [Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing]. Zhonghua Fu Chan Ke Za Zhi. 2019;54(4):221-225.
Zhang, X. Y., You, Y. Q., Zhou, H. H., Wang, S. J., Xie, X. X., Zhang, M. L., Wang, L. X., & Lu, Y. P. (2019). [Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing]. Zhonghua Fu Chan Ke Za Zhi, 54(4), 221-225. https://doi.org/10.3760/cma.j.issn.0529-567x.2019.04.002
Zhang XY, et al. [Study of Genetic Etiology in Fetuses With Severely Short Limbs in the First and Second Trimester Using Whole Exome Sequencing]. Zhonghua Fu Chan Ke Za Zhi. 2019 Apr 25;54(4):221-225. PubMed PMID: 31006186.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Study of genetic etiology in fetuses with severely short limbs in the first and second trimester using whole exome sequencing]. AU - Zhang,X Y, AU - You,Y Q, AU - Zhou,H H, AU - Wang,S J, AU - Xie,X X, AU - Zhang,M L, AU - Wang,L X, AU - Lu,Y P, PY - 2019/4/22/entrez PY - 2019/4/23/pubmed PY - 2019/5/1/medline KW - Bone diseases, developmental KW - DNA copy number variations KW - Pregnancy trimester, first KW - Pregnancy trimester, second KW - Whole exome sequencing SP - 221 EP - 225 JF - Zhonghua fu chan ke za zhi JO - Zhonghua Fu Chan Ke Za Zhi VL - 54 IS - 4 N2 - Objective: To investigate pathogenic genes related to the phenotype of fetus with severely short limbs in the first and second trimester by whole exome sequencing (WES). Methods: Thirteen fetuses with severely short limbs detected by ultrasonography in the first and second trimester admitted in Chinese PLA General Hospital from September 2016 to June 2018 were collected. All cases were performed induced abortion, 6 of which were carried out karyotype analysis of amniotic fluid at the same time. WES and copy number variations (CNV) were performed on specimens from fetal tissues after labor induction. The suspected pathogenic mutations were validated by Sanger sequencing reactions. Results: No abnormal karyotypes or pathological CNV were found. In 10 fetuses, pathogenic or possibly pathogenic mutations were detected in the following genes: COL2A1, FGFR3, COL1A1, COL1A2, DYNC2LI1 and TRIP11, all of which were essential to skeletal development. The diagnostic yield of WES in the fetuses with severe short limbs was 10/13. Conclusions: In the first and second trimester, most of the fetuses with extremely short limbs suffer from monogenic diseases. WES is likely to be a valuable diagnostic testing option for the fetuses with severe short limbs. SN - 0529-567X UR - https://www.unboundmedicine.com/medline/citation/31006186/[Study_of_genetic_etiology_in_fetuses_with_severely_short_limbs_in_the_first_and_second_trimester_using_whole_exome_sequencing]_ L2 - https://medlineplus.gov/birthdefects.html DB - PRIME DP - Unbound Medicine ER -