Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling.

ABSTRACT:

Objectives

To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies.

Methods

Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneuploidies (n = 37). Clinical outcome information was reviewed and stratified into eight categories according to whether the karyotype or sonographic information agreed or disagreed with sequencing results.

Results

Of 67 cases with fetal or neonatal karyotypes available, 16 (24%) were partially or fully concordant with the NIPT result, 4 (6%) had aneuploidy on a reference chromosome,

SUBMITTER: Snyder HL 

PROVIDER: S-EPMC5067681 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature