Publications by authors named "Teresa Wei Ling Ma"

Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is a retrospective cohort study of 104 fetuses with SCAs identified on antenatal ultrasound in Hong Kong, where whole exome sequencing is performed.

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With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year.

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Article Synopsis
  • The study analyzed the risks of intrauterine fetal death, neonatal death, perinatal death, and neonatal complications in two types of twin pregnancies: monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA).
  • It involved 378 MCDA and 1,282 DCDA twin pregnancies from a public hospital between 2011 and 2018, excluding high-risk cases.
  • Results indicated that MCDA twins had higher rates of perinatal death, neonatal morbidity, preterm delivery, and low birth weight compared to DCDA twins, but the risk of late intrauterine fetal death was low with proper monitoring.
  • The study concluded that careful fetal monitoring and delaying deliveries can mitigate
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