De novo copy number variants and parental age: Is there an association?

Purpose: To investigate whether increased parental age is associated with an increased risk for de novo copy number variant (CNV) formation in offspring.

Methods: CNV calls from 2323 individuals referred to Signature Genomic Laboratories for clinical microarray-based comparative genomic hybridization were investigated; 17% of the samples were prenatal and 83% were postnatal. The de novo CNV data were further split into de novo CNVs bound by low copy repeats (LCRs) and those not bound by LCRs.

Discussion: 'Add-back regimens in patients using a GnRH agonist for premenstrual dysphoric disorder' by Segebladh et al.

In the roundtable that follows, clinicians discuss a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Segebladh B, Borgström A, Nyberg S, et al. Evaluation of different add-back estradiol and progesterone treatments to gonadotropin-releasing hormone agonist treatment in patients with premenstrual dysphoric disorder.

Facilitative glucose transporter type 1 is differentially regulated by progesterone and estrogen in murine and human endometrial stromal cells.

Embryo implantation is a highly synchronized event between an activated blastocyst and a receptive endometrium. The success of this process relies on the dynamic interplay of estrogen (E(2)) and progesterone (P(4)), however, the details of this interaction are not entirely clear. Recent data implicate E(2) and P(4) in the regulation of glucose utilization by affecting facilitative glucose transporter (GLUT) expression.

Early genetic sonogram for Down syndrome detection.

Objective: The purpose of this study was to determine the Down syndrome sensitivity of early genetic sonography (14-<16 weeks of gestation) and to compare its diagnostic accuracy with that later in the mid trimester (16-24 weeks of gestation).

Study Design: Nuchal thickness, humerus and femur lengths, hyperechoic bowel, hypoplastic fifth digit (clinodactyly), and any gross anatomic defects were measured or ascertained in singleton pregnancies that were undergoing genetic amniocentesis. Multiple stepwise logistic regression analysis was used to determine the significant sonographic markers for Down syndrome detection in each group.