Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.

Background: Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently.

Objectives: Our study aimed to refine the genotype-phenotype associations between Xp22.

Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.

Chromosomal aberrations contribute to human phenotypic diversity and disease susceptibility, but it is difficult to assess their pathogenic effects in the clinic. Therefore, it is of great value to report new cases of chromosomal aberrations associated with normal phenotypes or clinical abnormalities. This was a retrospective analysis of seven pedigrees that carried 21q21.

A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

Objective: To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center.

Methods: A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test and post-test genetic counseling was provided, and the pregnancy outcomes were recorded.

[Factors affecting the failure of non-invasive prenatal testing and the feasibility analysis of retesting].

Objective: To explore the cause for the failure of non-invasive prenatal testing (NIPT) and feasibility of repeated testing.

Methods: Clinical data, test results and pregnancy outcomes of 40 311 pregnant women who received NIPT test from January 2011 to December 2018 were reviewed.

Results: Among all the pregnant women, 1116 cases failed in the first test, 9 cases (0.

Prenatal diagnosis of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.

Objective: To report a case of familial submicroscopic duplication at 18q22.3 without phenotypic abnormalities.

Case Report: Here, we reported two different cases with novel copy number variation at chromosome 18q22.

A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.

Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common chromosomal structural variation. Next-generation sequencing has been reported to detect BCA-associated breakpoints with the aid of karyotyping. However, the complications associated with this approach and the requirement for cytogenetics information has limited its application.