Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) (Genetics in Medicine, (2021), 23, 10, (1793-1806), 10.1038/s41436-021-01203-z)

ACMG Professional Practice and Guidelines Committee

Research output: Contribution to journalComment/debatepeer-review

Abstract

Several instances of non-inclusive language were used in the original version of this paper. The authors regret the errors. On p. 6: ACMG recommends: All pregnant patients and those planning a pregnancy should be offered Tier 3 carrier screening for autosomal recessive (Tables 1–5) and X-linked (Table 6) conditions. Reproductive partners of pregnant patients and those planning a pregnancy may be offered Tier 3 carrier screening for autosomal recessive conditions (Tables 1–5) when carrier screening is performed simultaneously with their partner. On p. 7: ACMG recommends: All XX patients should be offered screening for only those X-linked genes listed in Table 6 as part of Tier 3 screening. First paragraph on p. 10: The possibility of manifesting heterozygotes and their associated clinical features, if such are known, as in cases of carriers of X-linked conditions (for example, cardiomyopathy in DMD carriers; primary ovarian failure in FMR1 premutation carriers) should be discussed as part of pretest counseling. Last paragraph on p. 10: Carrier screening counseling should be provided by knowledgeable and appropriately trained health-care professionals and should be performed pre- and post-test. It should be noted that traditional models of genetic counseling can be both time and labor intensive. Thus, new models need to be developed and instituted for both training nongenetics providers and counseling patients. These models might include videos, chatbots, computerbased learning, or other methods of providing information to patients and assessing their understanding. Carrier screening for autosomal recessive conditions is unique when compared to other medical testing in that test results impact the likelihood of offspring of the patient having a genetic condition, while for the most part, the patient screened is healthy. However, patients with two X chromosomes, who screen positive for X-linked conditions may manifest symptoms of the condition (e.g., OTC deficiency and hemophilia) because of skewed X inactivation. This also explains why some carriers of Duchenne muscular dystrophy (DMD) experience cardiomyopathy. A subset of these patients who have a FMR1 premutation allele are at risk to develop premature ovarian insufficiency, a condition unrelated to that seen in their XY offspring (i.e., fragile X syndrome). Last paragraph on p. 11: When sequential screening is performed and one partner is discovered to be a carrier of an autosomal recessive or X-linked condition, that partner should undergo counseling by a knowledgeable and appropriately trained health-care professional. In specific circumstances, it may be especially appropriate to seek the assistance of a genetics professional, for example (1) when the gene or variant is known to be associated with variable expressivity, (2) when an X-linked carrier is identified, (3) when autosomal recessive carriers of gene variants that have possible phenotypic implications are identified, and (4) when a VUS is disclosed. In addition the ESM was updated. The original article has been corrected.

Original languageEnglish (US)
Pages (from-to)2015
Number of pages1
JournalGenetics in Medicine
Volume23
Issue number10
DOIs
StatePublished - Oct 2021

ASJC Scopus subject areas

  • Genetics(clinical)

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