Prenatal Diagnosis of Cystic Fibrosis by Celocentesis.
Genes (Basel)
; 15(6)2024 May 23.
Article
en En
| MEDLINE
| ID: mdl-38927598
ABSTRACT
Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported the feasibility of earlier prenatal diagnosis by celocentesis in four cases of cystic fibrosis and one case of cystic fibrosis and ß-thalassemia co-inherited in the same fetus. Celomic fluids were aspired from the celomic cavity between 8+2 and 9+3 weeks of gestation and fetal cells were picked up by micromanipulator. Maternal DNA contamination was tested and target regions of fetal DNA containing parental pathogenetic variants of CFTR and HBB genes were amplified and sequenced. Four of the five fetuses resulted as being affected by cystic fibrosis and, in all cases, the women decided to interrupt the pregnancy. In the other case, the fetus presented a healthy carrier of cystic fibrosis. The results were confirmed in three cases on placental tissue. In one case, no abortive tissue was obtained. In the last case, the woman refused the prenatal diagnosis to confirm the celocentesis data; the pregnancy is ongoing without complications. This procedure provides prenatal diagnosis of monogenic diseases at least four weeks earlier than traditional procedures, reducing the anxiety of patients and providing the option for medical termination of the affected fetus at 8-10 weeks of gestation, which is less traumatic and safer than surgical termination in the second trimester.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
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Regulador de Conductancia de Transmembrana de Fibrosis Quística
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Fibrosis Quística
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Genes (Basel)
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia