Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing.

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing.

Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure.

The importance of a genetic evaluation of prospective ovum donors: a study of family history and genetic carrier testing.

Objective: To determine the percentage of potential ovum donors who have an increased risk for fetal harm.

Study Design: Couples using an ovum donor to conceive a pregnancy are expecting to select someone who poses a low genetic risk to their offspring. Currently, most genetic carrier screening of these donors is performed at the discretion of the fertility center.

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.

Objective: To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21.

Study Design: This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) comprised the translocation group and were compared with a maternal age-matched group (4 to 1, n = 812) in which complete trisomy 21 was detected.

Maternal reactions to two-dimensional compared to three-dimensional foetal ultrasonography.

Our objective was to quantitatively compare maternal reactions to viewing a three-dimensional (3D) ultrasound image of the foetal face to a traditional two-dimensional (2D) sonographic image. One hundred and twelve pregnant women were asked to evaluate their excitement, relief, amazement and satisfaction reactions to 2D and 3D ultrasound images of their foetus' face. A weighted kappa Cochran-Armitage trend test, Fisher exact test and generalised estimating equations were used to analyse the data obtained.

Moderately increased risks of Down's syndrome (1/51-1/270) identified on first trimester sequential screening: what do patients do with this information?

Objective: To document patient decisions after being informed of a first trimester sequential screen Down's syndrome risk between 1/51 and 1/270.

Setting: A database analysis of sequential screen results for patients seen in the Philadelphia, PA (USA) area between January 2006 and March 2008 was examined.

Methods: All patients with first trimester sequential screen Down's syndrome risks in the 1/51-1/270 range were identified.