Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.
Yuval YaronV Ofen GlassnerA MoryN Zunz HenigA KurolapA Bar ShiraD Brabbing GoldsteinD MaromL Ben SiraH Baris FeldmanGustavo MalingerKarina Krajden HaratzA RechesPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2022)
In our study, ES provided a high diagnostic yield (> 50%) in fetuses with severe CNS structural anomalies, which may have been partly due to the highly selected case series that included post-TOP cases from a specialist referral center. These data suggest that ES may be considered as a first-tier test for the prenatal diagnosis of major fetal CNS anomalies, detecting both P/LP sequence variants and CNVs. This is of particular importance given the time constraints of an ongoing pregnancy and the risk of recurrence in future pregnancies. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Keyphrases
- gestational age
- preterm birth
- magnetic resonance imaging
- copy number
- blood brain barrier
- early onset
- pregnancy outcomes
- palliative care
- primary care
- ultrasound guided
- contrast enhanced ultrasound
- current status
- big data
- drug induced
- cerebrospinal fluid
- computed tomography
- systematic review
- dna methylation
- free survival
- amino acid