Mary E. Norton, MD

Protocol 5 - In this protocol, Norton reviews the pathophysiology of fetal aneuploidy and the wide range of tests for it. Included are perspectives on cell-free DNA testing, first-trimester combined screening, nuchal translucency (NT) sonography, and pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG), as well as quad marker screening in the second trimester in appropriate cases, and combined first- and second-trimester screening.

While most genetic disorders occur in patients with no relevant family history or risk factors, patients who have a family history of concern often benefit from genetic counseling.

Obstetricians need to have a strategy to provide basic pretest education and counseling to their pregnant patients.

In a busy obstetrical practice, use of a family history questionnaire or checklist is usually the most practical means of assessment.

As new screening options become available, ob/gyns must be able to counsel their pregnant patients appropriately.

This summary of SMFM Consult Series #46 reviews major considerations in evaluation and management of polyhydramnios.

Ventriculomegaly, or dilation of the fetal cerebral ventricles, is a relatively common finding on prenatal ultrasound. This summary of SMFM Consult Series #45 reviews key points for diagnosis, evaluation, and management of mild fetal ventriculomegaly.