Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had ...

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 plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have ...

Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of...

Tailgut cysts are congenital lesions found in the presacral space. These have been mainly identified in adults and are rare in children, especially neonates. Here, we present the case of a neonate with a presacral cystic mass detected by prenatal ultrasonography that was diagnosed as a tailgut cyst after postnatal surgical removal. When a presacral cyst is encountered, tailgut cyst should be co...

INTRODUCTION Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific...

In the Indian village of Shahargaon, a village undergoing urbanizing effects near New Delhi, ultrasound and other prenatal diagnosis services are offered for people seeking prenatal sex determination and abortion of female fetuses. In the last 10 years there has been a significant rise in the practice of amniocentesis and ultrasonography to identify female fetuses followed by abortion to avoid ...

BACKGROUND Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system. METHODS We have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborn...

PURPOSE To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. METHODS We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had...

The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from methods that convert probability statements about recurrence risks into more precise knowledge about a specific abnormality in ...