Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience
Fuente:
Wiley Open Access
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Artículo Open Access |
| Published: |
Wiley
2024
|
| Subjects: | |
| Online Access: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1867011691554799616 |
|---|---|
| author | Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li |
| author_facet | Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li |
| collection | Wiley Open Access |
| contents | Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li Prenatal Diagnosis ABSTRACT Objective To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA). Methods This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis. Genetic investigations were performed by chromosomal microarray analysis and trio exome sequencing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes. Results Pathogenic and likely pathogenic variants in three genes ( FRAS1 , PBX1 , and KMT2D ) were detected by exome sequencing in 6 (6/14) cases. One gene ( FRAS1 ) is inherited in an autosomal recessive (AR) manner and two ( PBX1 and KMT2D ) are autosomal dominant (AD); both AD variants were de novo. Only the FRAS1 variants were detected in more than one case. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA. The yield of exome sequencing in our series is one third (4/12) after excluding two families with a previous family history. Conclusion Fraser syndrome, resulting from FRAS1 variants, is the most common cause of genetic BRA identified in this specific cohort. The determination of genetic etiology will be valuable in the possible choices for pregnancy management and risk assessment of recurrence in future pregnancies. 10.1002/pd.6705 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| doi_str_mv | 10.1002/pd.6705 |
| format | Artículo Open Access |
| id | wiley_oa_10_1002_pd_6705 |
| institution | Wiley Open Access |
| license_str_mv | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| publishDate | 2024 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li Prenatal Diagnosis Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience Qiu‐Xia Yu Li Zhen Zhi‐Qing Xiao Yun‐Jing Wen Dong‐Zhi Li Prenatal Diagnosis ABSTRACT Objective To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA). Methods This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis. Genetic investigations were performed by chromosomal microarray analysis and trio exome sequencing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes. Results Pathogenic and likely pathogenic variants in three genes ( FRAS1 , PBX1 , and KMT2D ) were detected by exome sequencing in 6 (6/14) cases. One gene ( FRAS1 ) is inherited in an autosomal recessive (AR) manner and two ( PBX1 and KMT2D ) are autosomal dominant (AD); both AD variants were de novo. Only the FRAS1 variants were detected in more than one case. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA. The yield of exome sequencing in our series is one third (4/12) after excluding two families with a previous family history. Conclusion Fraser syndrome, resulting from FRAS1 variants, is the most common cause of genetic BRA identified in this specific cohort. The determination of genetic etiology will be valuable in the possible choices for pregnancy management and risk assessment of recurrence in future pregnancies. 10.1002/pd.6705 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| title | Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience |
| topic | Prenatal Diagnosis |
| url | https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6705 |