Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

T.H.T. Lai; L.K.S. Au; Y.T.E. Lau; H.M. Lo; K.Y.K. Chan; K.W. Cheung; T.W.L. Ma; W.C. Leung; C.W. Kong; W. Shu; P.L. So; A.K.Y. Kwong; C.C.Y. Mak; M. Lee; M.M.C. Chui; B.H.Y. Chung; A.S.Y. Kan

doi:10.3390/healthcare10122521

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

T.H.T. Lai, L.K.S. Au, Y.T.E. Lau, H.M. Lo, K.Y.K. Chan, K.W. Cheung, T.W.L. Ma, W.C. Leung, C.W. Kong, W. Shu, P.L. So, A.K.Y. Kwong, C.C.Y. Mak, M. Lee, M.M.C. Chui, B.H.Y. Chung, A.S.Y. Kan

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4 Citations (Scopus)

Abstract

Fetal structural congenital abnormalities (SCAs) complicate 2–3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.

Original language	English
Journal	Healthcare (Switzerland)
Volume	10
Issue number	12
DOIs	https://doi.org/10.3390/healthcare10122521
Publication status	Published - 2022
Externally published	Yes

Keywords

genetic counselling
prenatal diagnosis
prenatal whole exome sequencing

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10.3390/healthcare10122521

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Lai, T. H. T., Au, L. K. S., Lau, Y. T. E., Lo, H. M., Chan, K. Y. K., Cheung, K. W., Ma, T. W. L., Leung, W. C., Kong, C. W., Shu, W., So, P. L., Kwong, A. K. Y., Mak, C. C. Y., Lee, M., Chui, M. M. C., Chung, B. H. Y., & Kan, A. S. Y. (2022). Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory. Healthcare (Switzerland), 10(12). https://doi.org/10.3390/healthcare10122521

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title = "Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory",

abstract = "Fetal structural congenital abnormalities (SCAs) complicate 2–3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.",

keywords = "genetic counselling, prenatal diagnosis, prenatal whole exome sequencing",

author = "T.H.T. Lai and L.K.S. Au and Y.T.E. Lau and H.M. Lo and K.Y.K. Chan and K.W. Cheung and T.W.L. Ma and W.C. Leung and C.W. Kong and W. Shu and P.L. So and A.K.Y. Kwong and C.C.Y. Mak and M. Lee and M.M.C. Chui and B.H.Y. Chung and A.S.Y. Kan",

year = "2022",

doi = "10.3390/healthcare10122521",

language = "English",

volume = "10",

number = "12",

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Lai, THT, Au, LKS, Lau, YTE, Lo, HM, Chan, KYK, Cheung, KW, Ma, TWL, Leung, WC, Kong, CW, Shu, W, So, PL, Kwong, AKY, Mak, CCY, Lee, M, Chui, MMC, Chung, BHY & Kan, ASY 2022, 'Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory', Healthcare (Switzerland), vol. 10, no. 12. https://doi.org/10.3390/healthcare10122521

TY - JOUR

T1 - Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

AU - Lai, T.H.T.

AU - Au, L.K.S.

AU - Lau, Y.T.E.

AU - Lo, H.M.

AU - Chan, K.Y.K.

AU - Cheung, K.W.

AU - Ma, T.W.L.

AU - Leung, W.C.

AU - Kong, C.W.

AU - Shu, W.

AU - So, P.L.

AU - Kwong, A.K.Y.

AU - Mak, C.C.Y.

AU - Lee, M.

AU - Chui, M.M.C.

AU - Chung, B.H.Y.

AU - Kan, A.S.Y.

PY - 2022

Y1 - 2022

N2 - Fetal structural congenital abnormalities (SCAs) complicate 2–3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.

AB - Fetal structural congenital abnormalities (SCAs) complicate 2–3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed. Molecular diagnosis was obtained in 25 of the 104 fetuses (24%). The highest diagnostic rate was found in fetuses with multiple SCAs (29.2%), particularly those with involvement of the cardiac and musculoskeletal systems. Variants of uncertain significance were detected in 8 out of the 104 fetuses (7.7%). Our study shows the utility of WES in the prenatal setting, and the extended use of the technology would be recommended in addition to conventional genetic workup.

KW - genetic counselling

KW - prenatal diagnosis

KW - prenatal whole exome sequencing

U2 - 10.3390/healthcare10122521

DO - 10.3390/healthcare10122521

M3 - Article

VL - 10

JO - Healthcare (Switzerland)

JF - Healthcare (Switzerland)

IS - 12

ER -

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

Abstract

Keywords

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