In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 6 ( 2022-05), p. 717-724
Kurzfassung:
What's already known about this topic? Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have prenatal phenotypes. What does this study add? We assessed the prevalence of prenatally detectable phenotypes among 138 patients with neurocognitive syndromes diagnosed postnatally by ES. Fetal structural abnormalities were present in 23.75%. Other ultrasound abnormalities (such as fetal growth restriction, polyhydramnios) were reported in 23.75%. Most patients diagnosed with neurocognitive disorders did not have an indication for prenatal ES.
Materialart:
Online-Ressource
ISSN:
0197-3851
,
1097-0223
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2022
ZDB Id:
1491217-X
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