We thank Righetti et al
1
for their interest in our article titled 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).
2
We were pleased to learn that the investigators from the Australian Reproductive
Genetic Carrier Screening Project (ARGCSP) are in agreement with many aspects of this
practice resource.To read this article in full you will need to make a payment
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References
- Response 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).Genet Med. 2022; 24: 1158-1161
- 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).Genet Med. 2021; 23: 1793-1806https://doi.org/10.1038/s41436-021-01300-z
- Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”).Eur J Hum Genet. 2021; 29: 79-87https://doi.org/10.1038/s41431-020-0685-x
- Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.Genet Med. 2019; 21: 1940-1947https://doi.org/10.1038/s41436-019-0472-7
- National Center for Health Statistics, Centers for Disease Control and Prevention.https://www.cdc.gov/nchs/nvss/births.htmDate accessed: February 12, 2022
- Births, Australia. Australian Bureau of Statistics.https://www.abs.gov.au/statistics/people/population/births-australia/latest-releaseDate accessed: February 12, 2022
Article info
Publication history
Published online: February 24, 2022
Accepted:
December 30,
2021
Received:
December 22,
2021
Footnotes
Email address: ACMG ([email protected])
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Correspondence on “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)” by Gregg et alGenetics in MedicineVol. 24Issue 5
- PreviewWe are investigators working on the Australian Reproductive Genetic Carrier Screening Project (ARGCSP), known as Mackenzie’s Mission. The aim of the project is to study how best to implement population-wide carrier screening and involves an offer of screening to >8000 Australian reproductive couples.1 We welcome efforts to address the important questions raised in the American College of Medical Genetics and Genomics (ACMG) Carrier Screening Practice Resource2 and agree that standardization of carrier screening practice is desirable.
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