The evaluation and management of fetuses/children with antenatal hydronephrosis (ANH)
poses a significant dilemma for the practitioner. Which patients require evaluation …

Widespread antenatal screening has resulted in increased detection of anomalies of the
kidneys and urinary tract. The present guidelines update the recommendations published in …

Background The cause of most fetal anomalies is not determined prenatally. Exome
sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal …

Objective The aim of this study is to understand the diagnostic utility of comparative genomic
hybridization (CGH)‐based microarrays for pregnancies with abnormal ultrasound findings …

In this study the substantial and in part contradictory data available in the literature was
collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in …

Massively parallel sequencing of cell-free, maternal plasma DNA was recently demonstrated
to be a safe and effective screening method for fetal chromosomal aneuploidies. Here, we …

Objective To evaluate the application of non‐invasive prenatal testing (NIPT) as an
alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound …

Understanding the underlying causes of congenital anomalies (CAs) can be a complex
diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and …

Background Women with fetal multicystic dysplastic kidneys (MCDK) are commonly referred
for genetic counseling, for which identification of the correct etiology is a prerequisite …

Objectives This study aimed to explore the relationships between urinary anomalies and
copy number variations (CNVs) in fetuses and provide information for prenatal diagnosis …