ACOG: Early Counseling Urged for Women with Genetic Conditions

Should begin before conception and extend into first pregnancy trimester

Women with genetic conditions should begin counseling prior to becoming pregnant, according to new recommendations released by the American College of Obstetricians and Gynecologists (ACOG).

ACOG's Committee on Genetics called for a multi-tiered approach, in which women with or at risk for certain genetic conditions would receive counseling from a variety of healthcare professionals, such as OB/GYNs, maternal-fetal medicine specialists, and genetic specialists. These recommendations were published in Obstetrics & Gynecology as Committee Opinion 643.

In the case of some genetic conditions, women would also receive genetic testing prior to in vitro fertilization or prenatal diagnostic testing during pregnancy. Once a pregnancy was established, a prenatal exam would be recommended early in the first trimester for the purpose of prenatal screening and risk assessment.

Britton Rink, MD, vice chair of ACOG's Committee on Genetics, said that the recommendations were not intended to specifically change the care of women with genetic conditions in pregnancy, but to help the specialist in obstetrics and gynecology recognize the features of several common diagnoses that they are likely to encounter during clinical care.

"Providers are encouraged to seek assistance from experts to evaluate a patient's risk for health complications, risk to have a baby with the condition, options for testing, risk and benefits of any maternal treatments necessary to maintain the health of the mother and delivery planning," he said in an email to MedPage Today. "The goal is improved maternal and fetal/neonatal outcomes as a result of optimal care by those with experience with these rare disorders."

The authors address the features of various autosomal recessive or autosomal dominant genetic conditions that are particularly risky during pregnancy, including:

·         Pulmonary (cystic fibrosis)

·         Cardiac (Marfan syndrome)

·         Neurocutaneous (neurofibromatosis type 1 and tuberous sclerosis)

·         Renal (autosomal dominant polycystic kidney disease)

·         Metabolic (PKU, Noonan syndrome, myotonic dystrophy type 1)

This counseling will ensure that providers understand the extent of a woman's health history and is not confined simply to the risk that genetic disorders will be passed to offspring.

For example, the guideline noted that some genetic conditions require medication with teratogenic potential, and such treatment may need to be altered to ensure a healthy pregnancy. Also, some genetic disorders are associated with significant morbidity or mortality for the mother, which may make pregnancy inadvisable.

Joseph R. Biggio, Jr., MD, chair of ACOG's Genetics Committee, said in an email to MedPage Today that prior to the release of these recommendations, the care of patients likely varied depending on where it's given. He added that obstetricians should encourage their patients to arrange preconception evaluation with their care providers in order to optimize their medical status, treatment regimens, and plans for fetal assessment.

"[As] healthcare has gotten better, many women with genetic diseases are now reaching reproductive age and achieving pregnancy," Biggio concluded. "There a number of new potential issues that obstetricians need to be prepared to address including the potential effects of any treatments on the fetus, the risk of the fetus inheriting the maternal condition, as well as any unique risks that the maternal condition poses on pregnancy and pregnancy on the condition." by Molly Walker 
Contributing Writer