Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
BJOG
; 129(1): 52-61, 2022 Jan.
Article
en En
| MEDLINE
| ID: mdl-34411415
ABSTRACT
OBJECTIVE:
To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase diagnostic yield.DESIGN:
Retrospective analysis of data from two prospective cohort studies.SETTING:
Fetal medicine centres in the UK and USA. POPULATION Fetuses with increased NT ≥3.5 mm at 11-14 weeks of gestation recruited to the Prenatal Assessment of Genomes and Exomes (PAGE) and Columbia fetal whole exome sequencing studies (n = 213).METHODS:
We grouped cases based on (1) the presence of additional structural abnormalities at presentation in the first trimester or later in pregnancy, and (2) NT measurement at presentation. We compared diagnostic rates between groups using Fisher exact test. MAIN OUTCOMEMEASURES:
Detection of diagnostic genetic variants considered to have caused the observed fetal structural anomaly.RESULTS:
Diagnostic variants were detected in 12 (22.2%) of 54 fetuses presenting with non-isolated increased NT, 12 (32.4%) of 37 fetuses with isolated increased NT in the first trimester and additional abnormalities later in pregnancy, and 2 (1.8%) of 111 fetuses with isolated increased NT in the first trimester and no other abnormalities on subsequent scans. Diagnostic rate also increased with increasing size of NT.CONCLUSIONS:
The diagnostic yield of prenatal ES is low for fetuses with isolated increased NT but significantly higher where there are additional structural anomalies. Prenatal ES may not be appropriate for truly isolated increased NT but timely, careful ultrasound scanning to identify other anomalies emerging later can direct testing to focus where there is a higher likelihood of diagnosis.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Trisomía
/
Medida de Translucencia Nucal
/
Secuenciación del Exoma
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Región como asunto:
America do norte
/
Europa
Idioma:
En
Revista:
BJOG
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Reino Unido