SMFM Publishes Consult Series on Fetal Anomalies

Guide to diagnosis, management, treatment includes evaluation of genetic causes


The new Society for Maternal-Fetal Medicine (SMFM) Fetal Anomalies Consult Series details an organ-based approach to the diagnosis, management, and treatment of the most common fetal and placental anomalies. The first document in the series is Facial Anomalies, published in November 2019 in the American  Journal  of  Obstetrics  and  Gynecology.

Jeffrey A. Kuller, MD, a Duke maternal-fetal medicine specialist and vice chair of the SMFM’s Publications Committee, serves as a co-editor for the series. Fellowship-trained and board-certified in maternal-fetal medicine as well as medical genetics, Kuller contributed to a review of each document as well as an assessment of the genetic causes for each anomaly. In this Q&A, he discusses the importance of the series to obstetric clinicians and describes genetic evaluation for one of the most common fetal facial abnormalities—orofacial cleft.

Question: How did this series of guidelines originate, and what does it offer?

Kuller: The goal of the series is to provide clinicians with a systematic approach to the diagnosis, evaluation, and management of various abnormalities detectable with prenatal ultrasound imaging. The SMFM Publications Committee decided to produce a succinct resource on common fetal abnormalities so that  clinicians can  follow SMFM guidelines and recommendations. Each document has  a section including introduction, definition, ultrasound findings, associated abnormalities, differential diagnoses, genetic evaluation, pregnancy and delivery management, prognosis, and a summary.

Question: What is an example of a genetic evaluation for one of the anomalies?

Kuller: Let’s look at the document on orofacial cleft as an example. The prognosis depends on whether the defect is isolated; so when we find a cleft on a 2-D and 3-D ultrasound, we look carefully for associated abnormalities. If we find any other abnormalities, the prognosis is generally worse, and the chance of finding a chromosome abnormality or microdeletion is higher. In that case, we offer amniocentesis, or, if a patient doesn’t want invasive testing, we can obtain  a cell-free DNA prenatal screening test. This test looks at placental DNA that crosses from the fetal to the maternal bloodstream and assesses the risk of the three most common trisomies, 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome).

An additional test we offer from the amniotic fluid is chromosomal microarray analysis, which is a high-resolution, whole-genome technique that provides a deeper dive into genetic constitution and will pick up missing pieces of chromosomes that we wouldn’t see with traditional karyotyping. If a genetic evaluation is negative and there are no associated abnormalities, the fetus’ prognosis is generally excellent.

Question: After testing is complete, what can clinicians do to help guide parents in improving their child’s quality of life?

Kuller: Patients with a fetal orofacial cleft can be referred pre- or postnatally to the Duke Cleft and Craniofacial Center, which comprises specialists in pediatrics, plastic surgery, and orthodontia. This team achieves amazing results with the latest technology and procedures for children with orofacial clefting. For this anomaly in particular, a child can have a surgical result that’s quite complete and  pleasing, with a very good prognosis long term. It’s often a traumatic prenatal diagnosis for a parent initially, but a referral to our world-class Craniofacial Center means their child will receive great care and excellent surgical results.

Question: What subjects will be covered in upcoming issues of the Consult Series?

Kuller: Over the coming year, the Publications Committee is planning sections on abnormalities of the fetal abdominal wall, extremities, and thorax; gastrointestinal, genitourinary, cardiac, and central nervous systems; skeletal dysplasia; and disorders of the umbilical cord, placenta and placental circulation, adnexa, and cervix, and those unique to monochorionic multiple gestations.