A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening

What's already known about this topic? NIPS is commonly used to screen for chromosomal abnormality. The test can be extended to screen for microdeletions such as 22q11.2 deletion syndrome. What does this study add? We present a case of 22q11.2 deletion syndrome missed by NIPS in a fetus with is...

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Published in:Prenatal diagnosis 2018-04, Vol.38 (5), p.376-378
Main Authors: Cheung, Ka Wang, Lai, Carman Wing Sze, Mak, Christopher Chun Yu, Hui, Pui Wah, Chung, Brian Hon Yin, Kan, Anita Sik Yau
Format: Article
Language:English
Subjects:
Adult
Chromosome aberrations
Chromosome deletion
Clubfoot
DiGeorge Syndrome - diagnosis
Female
Fetuses
Humans
Maternal Serum Screening Tests
Medical screening
Pregnancy
Talipes - diagnostic imaging
Ultrasonography, Prenatal
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cited_by cdi_FETCH-LOGICAL-c2601-53a8ca987ef2b7b5352c57b0b5a2ed5a7ec1bbc26442c44fba4ce03bb8d1c3533
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container_end_page 378
container_issue 5
container_start_page 376
container_title Prenatal diagnosis
container_volume 38
creator Cheung, Ka Wang
Lai, Carman Wing Sze
Mak, Christopher Chun Yu
Hui, Pui Wah
Chung, Brian Hon Yin
Kan, Anita Sik Yau
description What's already known about this topic? NIPS is commonly used to screen for chromosomal abnormality. The test can be extended to screen for microdeletions such as 22q11.2 deletion syndrome. What does this study add? We present a case of 22q11.2 deletion syndrome missed by NIPS in a fetus with isolated bilateral talipes. Clinicians should be aware of the controversy surrounding the use of NIPS for 22q11.2 deletion syndrome and that a negative test does not exclude the diagnosis.
doi_str_mv 10.1002/pd.5241
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subjects Adult
Chromosome aberrations
Chromosome deletion
Clubfoot
DiGeorge Syndrome - diagnosis
Female
Fetuses
Humans
Maternal Serum Screening Tests
Medical screening
Pregnancy
Talipes - diagnostic imaging
Ultrasonography, Prenatal
title A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening
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