The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a
paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal …

Prenatal diagnosis and screening have undergone rapid development in recent years, with
advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) …

Haplotype‐based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive
single‐gene disorders in proband families. However, a comprehensive exploration of critical …

Purpose: This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne
muscular dystrophy (DMD) using a newly developed haplotype-based approach. Methods …

Objective Evaluate the costs of offering non‐invasive prenatal diagnosis (NIPD) for single
gene disorders compared to traditional invasive testing to inform NIPD implementation into …

BACKGROUND Noninvasive prenatal diagnosis (NIPD) for monogenic disorders has a high
uptake by families. Since 2013, our accredited public health service laboratory has offered …

Simple Summary Retinoblastoma is a childhood eye cancer caused almost entirely by
defects in a gene known as RB1. Other genetic changes within the tumour are also thought …

Abstract Background Non-Invasive Prenatal Testing (NIPT) is a technology which provides
information about fetal genetic characteristics (including sex) very early in pregnancy by …

Multiple endocrine neoplasia type 2 (MEN2) is a neuroendocrine cancer syndrome
characterized by medullary thyroid carcinoma, in combination or not with …

BACKGROUND Noninvasive prenatal diagnosis of monogenic disorders using maternal
plasma and targeted massively parallel sequencing is being investigated actively. We …