Antenatal Screening for CFTR Variants—Reply

Ong and Ramsey respond to comments from Drs Vlachadis and Vrachnis on their article on antenatal screening for early diagnosis of cystic fibrosis. They state that although their recent Review was unable to cover every aspect of cystic fibrosis, they appreciate the opportunity to emphasize the role o...

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Veröffentlicht in:JAMA : the journal of the American Medical Association 2023-10, Vol.330 (14), p.1388-1389
Hauptverfasser: Ong, Thida, Ramsey, Bonnie W
Format: Artikel
Sprache:eng
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Zusammenfassung:Ong and Ramsey respond to comments from Drs Vlachadis and Vrachnis on their article on antenatal screening for early diagnosis of cystic fibrosis. They state that although their recent Review was unable to cover every aspect of cystic fibrosis, they appreciate the opportunity to emphasize the role of genetic counselors as part of a multidisciplinary cystic fibrosis care team. Genetic counselors play an important role in family planning by discussing inheritance patterns, providing education about the evolving course of disease, and engaging in shared decision-making with families. Specific considerations for people with cystic fibrosis should be made. As described in their Review, there has been an increase in pregnancy rates in people with cystic fibrosis in recent years. Indeed, a fetus of a person with cystic fibrosis and a person who carries 1 cystic fibrosis transmembrane conductance regulator pathologic variant has a 50% chance of inheritance
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.2023.14994