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Pregnancy Peace of Mind


There are two important birth defect screening tests all pregnant women should ask their doctors about, not just women who will deliver after age 35, according to Rodolfo E. Saenz, M.D., an obstetrician and gynecologist with Riverside Medical Clinic.   “These important tests have been around for some years, but we find most women don’t know about them,” Dr. Saenz says.  “They’re important sentinels and there is a lot of unnecessary fear and some misconceptions about them.”

The tests, for cystic fibrosis and the Expanded AFP, are simple laboratory screenings conducted on a small blood sample from the expectant mother, between the 15th and 20th weeks of pregnancy (four to five months).

Sixty-Five Roses

Born from a four-year-old’s misunderstanding as he overheard his mother fundraising for the Cystic Fibrosis Foundation, the more easily pronounced “sixty-five roses” has become the phrase used by millions of children to describe their disease.  CF is an inherited disease that is chronic and progressive, causing mucus to become thick and dry, clogging passages in many of the body’s organs, but primarily in the lungs and pancreas.  Serious breathing problems and lung disease can develop, as well as digestive problems and malnutrition, leading to retarded growth and development.

As a genetic disorder, CF is the result of two inherited genes (one defective gene from each parent), although if both parents are carriers, a child has only a 25 percent chance of inheriting the disease.  However, that child then has a 50 percent chance of being a carrier.   A person who inherits only one defective CF gene also is a carrier.  Screening is 90 percent effective in determining whether a person is a carrier for CF.

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According to Dr. Saenz, testing is particularly important for Caucasians, as one in 29 is a carrier of the defective gene for CF, with cases occurring one in 3,200.  Next in at-risk populations are Hispanics, with one CF case per 8,400 live births.  African Americans and Asians have lower risks for the disease.

“It’s such a simple way to obtain some good information and to put the parents’ minds at ease,” he said.

Triple Marker

The California Expanded AFP blood test for pregnant women is also called the “triple marker screen,” because it actually tests for three things: AFP (alpha-fetoprotein), HCG (human chronic gonadotropin) and UE (unconjugated estriol), all of which are present in the blood of a woman who is pregnant.  Most of the time, normal amounts of these substances are found in the blood.

The Expanded AFP helps screen for abnormalities such as spina bifida, which causes paralysis in the lower part of the body, Down Syndrome, which causes mental retardation and other more rare birth defects.   Often, even though higher or lower amounts of one or more of the substances may be present, no birth defects are found during the diagnostic tests.   Follow-up screening will explain the occurrence of levels found to be higher or lower than normal.

False positive tests are possible and according to Dr. Saenz, his own wife, Dr. Sarah Chae, also a physician at Riverside Medical Clinic, initially tested positive on the triple marker screen and then continued her pregnancy to deliver a healthy baby girl.

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“I advise my patients to arm themselves with knowledge and take advantage of the peace of mind these tests can provide.  While these tests have been around for several years, we didn’t always have them and many women still don’t know about them.

“Most women who test positive will go on to deliver healthy babies, but for pregnancies with a serious birth defect, early detection allows parents to explore their options and make early decisions.”

Dr. Saenz, who recently relocated his practice from Ohio, is currently accepting new obstetrical and gynecological patients at his Canyon Springs/Moreno Valley office.  To schedule an appointment, call (951) 697-5505.  With a degree in psychobiology from U.C.L.A. and a medical degree from Stanford, Dr. Saenz conducted his residency at U.C. Irvine.  In Ohio, he managed his own practice at Louisville Obstetrics and Gynecology for seven years and also served as assistant clinical professor at Northeastern Ohio University College of Medicine.

Dr. Saenz practices at Riverside Medical Clinic, a medical group of 113 physicians and 648 clinical and administrative personnel providing adult and pediatric primary and specialty health care.  The clinic operates four regional medical facilities, the main patient care campus in Riverside and community health clinics in Corona, Jurupa Valley and Canyon Springs/Moreno Valley.   For referral to a general or specialty physician, browse our list of medical providers or call (951) 782-3602.