Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Objective To review the performance of non‐invasive prenatal testing (NIPT) by low‐
coverage whole‐genome sequencing of maternal plasma DNA at a single center. Methods …

先天性心脏病(以下简称先心病) 指的是先天性心血管疾病, 是由于心脏, 血管在胚胎发育过程中
的障碍所致的心脏, 血管在形态结构, 功能, 代谢上的异常. 其临床后果极为严重, 通常导致流产 …

Context: Turner syndrome (TS), in which there is loss of all or part of one sex chromosome,
occurs in one in 2500 live-born females and is associated with characteristic findings …

Although extracellular control of canonical Wnt signaling is crucial for tissue homeostasis,
the role of the extracellular microenvironment in modulating this signaling pathway is largely …

The third edition of this established reference is the product of the combined efforts of many
professionals–obstetricians, pediatric cardiologists, sonographers, molecular biologists, and …

Objective: To examine the performance of chromosome-selective sequencing of cell-free (cf)
DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. Methods: This …

Objective The objectives of the study are to assess the accuracy of noninvasive prenatal
testing (NIPT) for sex chromosome aneuploidies (SCAs) and to investigate patient decision …

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a
thorough phenotypic and genetic evaluation are essential to determine the underlying …

First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized
pregnancies. Chromosomal anomalies are responsible for more than 50% of spontaneous …