A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening-Reference-Cited by-同舟云学术

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

Published:2018-03-13 Issue:5 Volume:38 Page:376-378
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Cheung Ka Wang¹^ORCID,Lai Carman Wing Sze¹,Mak Christopher Chun Yu²,Hui Pui Wah¹,Chung Brian Hon Yin²,Kan Anita Sik Yau¹

Affiliation:

1. Department of Obstetrics and Gynaecology, Queen Mary Hospital; The University of Hong Kong; Hong Kong Special Administrative Region China

2. Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine; The University of Hong Kong; Hong Kong Special Administrative Region China

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference14 articles.

1. Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy;Obstet Gynecol,2015

2. The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome;Dugoff;Prenat Diagn,2017

3. 22q11.2 deletion syndrome;McDonald-McGinn;Nat Rev Dis Primers,2015

4. Chromosomal microarray versus karyotyping for prenatal diagnosis;Wapner;N Engl J Med,2012

5. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies;Grati;Prenat Diagn,2015

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1. Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome;The Chromosome 22q11.2 Deletion Syndrome;2022

2. What is missing in the chest radiograph?;Pediatric Pulmonology;2021-07-20

3. Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases;Molecular Genetics & Genomic Medicine;2020-02-18

4. Congenital talipes equinovarus (clubfoot);American Journal of Obstetrics and Gynecology;2019-12

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