If you are pregnant or plan to get pregnant, is it safe to take medications, or will they harm you and/or your baby? That’s a question that haunts many pregnant women and medical professionals alike, and it is one that a new research program plans to investigate.

The program is called the Medication Exposure in Pregnancy Risk Evaluation Program (MEPREP), and it is a collaborative effort of the US Food and Drug Administration (FDA) and researchers at the HMO Research Network Center for Education and Research in Therapeutics (CERT), Kaiser Permanente’s multiple research centers, and Vanderbilt University. MEPREP will fund research to study the effects of prescription medications used by women during pregnancy.

Medication and Pregnancy
Everything a woman consumes during pregnancy passes through the placenta to the unborn child, so it is important to avoid medications if possible, especially during the first eight to ten weeks when the baby’s heart, lung, and brain systems are being formed. Some medications are considered safe to take during pregnancy, even though no medication is safe for 100 percent of the people. The effects of many other prescription and over-the-counter drugs on the unborn child are not known. Women who are taking prescription medications and who plan to become pregnant should talk to their doctor before they get pregnant to determine if and how safe it will be for them to continue their medication.

Safe Medications During Pregnancy
Prenatal vitamins are safe to take during pregnancy. Some other medications have not been found to be harmful during pregnancy if they are taken according to package directions. According to WebMD, some of these medications include but are not limited to Actifed, Benadryl, Fiberall/Fibercon, Gaviscon, hydrocortisone cream, Maalox, Metamucil, milk of magnesia, Monistat, Mylanta, Neosporin, Preparation H, Sudafed, Tums, and Tylenol. However, to be safe, women should talk to their doctor about any medications—over-the-counter and prescription—as well as herbal remedies that they are taking before they get pregnant or as soon as they learn they are pregnant.

How many women take medication during pregnancy? In a West Virginia University study, investigators interviewed 578 pregnant women and found that 95.8 percent took prescription medications, 92.6 percent self-medicated with over-the-counter medications, and 45.2 percent used herbal medications. Fifteen percent used ibuprofen. Medications that are contraindicated in pregnancy (e.g., ibuprofen) were used by the women at high rates.

The lack of clinical trials on the safety of medications during pregnancy is due to concerns about the health of the mother and child. Therefore, in order to arrive at some decisions about the safety of these medications during pregnancy, the MEPREP will evaluate information for mothers and their infants from 11 participating research sites that include health care information for about 1 million births that occurred from 2001 to 2007. Many of these women likely took medication during their pregnancies.

According to Gerald Dal Pan, MD, director of the Office of Surveillance and Epidemiology at the FDA’s Center for Drug Evaluation and Research, “This collaborative effort creates a unique resource to study the effects of medication in pregnant women and their children,” an effort that does not place women or their children in jeopardy. The researchers hope that their results “will provide information for patients and physicians when making decisions about medication during pregnancy.”

Hormonal contraceptives are effective in treating menstruation- related disorders such as dysmenorrhea and heavy menstrual bleeding, as well as preventing unplanned pregnancies, according to a new Practice Bulletin issued today by The American College of Obstetricians and Gynecologists (ACOG) and published in the January 2010 issue of Obstetrics & Gynecology. In addition, combined contraceptives containing both estrogen and progesterone offer disease prevention by reducing the risk of developing endometrial, ovarian cancer, and colorectal cancer.

More than 80% of women in the US will use some form of hormonal contraception during their reproductive years. There are several different forms of hormonal contraception including pills, patches, implants, injections, vaginal rings, and the intrauterine device (IUD). Pregnancy prevention is the primary reason that most women use hormonal contraception. However, these contraceptives are also frequently prescribed specifically for non-contraceptive reasons, which is considered off-label use.

“We’ve known for many years that hormonal contraceptives have health advantages beyond preventing pregnancy,” says Robert L. Reid, MD, of Kingston, Ontario, who led development of the document. “These recommendations examine the scientific data supporting the non-contraceptive uses of hormonal contraceptives to treat specific conditions.”

For instance, both oral contraceptives and the single-rod progestin implant help relieve or reduce the symptoms of dysmenorrhea (severe menstrual pain), the most commonly reported menstrual disorder. Dysmenorrhea affects up to 90% of young women and is a leading cause of women missing school and work. A variety of hormonal contraceptives are also useful in treating menorrhagia (excessive menstrual bleeding), which, if left untreated, can lead to anemia. All forms of birth control that contain both estrogen and progesterone have the potential to improve hirsutism (excess hair growth) and acne because they suppress production of the male hormone, androgen. Other potential benefits of hormonal contraceptives include prevention of menstrual migraines, treatment of pelvic pain due to endometriosis, and treatment of bleeding due to uterine fibroids.

“Combined oral contraceptives are effective in normalizing irregular periods, reducing symptoms of premenstrual dysphoric disorder, improving acne, and allowing women to avoid having their period at inconvenient times, such as during a business trip, vacation, or honeymoon ,” says Dr. Reid. “Although there is little data on the newer forms of hormonal contraception in terms of their off-label benefits, experts suggest that they may be as effective as the more studied ones in treating the same conditions.”

The scientific evidence shows that the longer a woman uses the birth control pill, the lower her risk for developing endometrial and ovarian cancer later, up to 20 years after discontinuing use. The pill also seems to offer some short-term protection against colorectal cancer among current or recent users.

An upcoming four-year trial called the Healthy Moms study will attempt to keep obese women from gaining any weight during their pregnancies to determine whether restricting weight gain can improve pregnancy outcomes, the New York Times reports. According to the Times, one-fifth of pregnant women in the U.S. are obese. Researchers have questioned whether obesity in a woman can negatively affect the health of her fetus or increase the likelihood of childhood obesity. In addition, some observational studies have suggested that obese women who gain less have better pregnancies and deliveries. However, there also is concern that women who do not gain weight will burn fat for energy, producing acidic compounds called ketones that studies have linked to lower I.Q. scores in infants.

The Institute of Medicine in May released new guidelines that lowered the minimum recommended weight gain during pregnancy for obese women from 15 pounds to 11 pounds. Many experts say that women require only 300 to 400 additional calories per day to support a pregnancy. Kathleen Rasmussen, a professor of nutrition at Cornell University who led the IOM committee on weight gain during pregnancy, said, “Pregnancy is what we call a teachable moment, a time when women are willing to make positive behavioral changes, because it’s important for their own health and their babies’ health.” She said that while many women quit smoking or drinking during pregnancy, “three-quarters of pregnant women who are overweight and obese are gaining outside the recommended guidelines.” Rasmussen added that there is a need for experimental studies examining whether limited weight gain will improve pregnancy outcomes.

Researchers managing the Healthy Moms study are hoping that if participants do gain weight, the gain will be limited to 3% of their baseline weight, or about five pounds for a woman who weighs 170 pounds. Participants will meet twice on their own with a dietitian and also participate in weekly support groups with weight management specialists. They will be encouraged to follow a low-fat diet plan incorporating fruits, vegetables, whole grains, lean meat and low-fat dairy products. The women will aim to consume about 2,000 calories per day. The study will follow the participants during and after their pregnancies to track their weight gain, the size of their infants and their weight retention one year after birth. Researchers also will analyze any complications, the infant’s growth and feeding practices, and whether the woman continues with a healthier lifestyle after the birth (Rabin, New York Times, 12/15).

This is a wonderfully comprehensive article on urolithiasis in pregnancy and is filled with pearls based on the authors’ experiences with 300 such patients. Valuable clinical take home points include:

a.) One can improve the accuracy of an ultrasound diagnosis of a stone from 56% to 72% by looking for additional indications of obstruction such as the absence of ureteral jets and/or elevated resistive indices.

b.) Colic on the left is more commonly associated with stones (65% vs. 47%) likely due to the cushioning effects of the left colon.

c.) Ureteroscopy is safe and resolved the stone problem in 88% of patients. There was one ureteral perforation; holmium laser lithotripsy is preferred.

d.) As with other smaller studies, fortunately only 3% of the cases occurred during the first trimester.

e.) Ultrasonography is the first line study. If it proves inconclusive, a limited 3 shot IVP was performed and provided an accurate diagnosis in 89%.

f.) Overall 64% of the patients passed their stones spontaneously. Stents were placed in 15%, ureteroscopy was performed in 9%, and only 2% came to placement of a nephrostomy tube. Of note, nearly 2/3rds of the stents were placed during the third trimester; among these patients, almost half poorly tolerated the stent. Given the high success of ureteroscopy and the need to rarely place a post ureteroscopy stent, it would appear that ureteroscopy may be a better alternative than stent placement when intervention is required, especially in the third trimester.

g.) Among patients with an indwelling stent, periodic ultrasonography was performed every 6-8 weeks in order to detect encrustation requiring stent exchange. As such, stent changes were required in only 22% of their patients.

Breastfeeding a child may lower a woman’s risk of developing Metabolic Syndrome, a condition linked to heart disease and diabetes in women, according to a Kaiser Permanente study that was published online ahead of print and will appear in the February issue of Diabetes, a journal of the American Diabetes Association. The protective association was even stronger for women who had gestational diabetes during pregnancy, according to the study’s lead author, Erica Gunderson, PhD, an epidemiologist and research scientist at Kaiser Permanente’s Division of Research in Oakland, Calif.

Breastfeeding a child lowers risk by 39 to 56 percent (depending on the duration of breastfeeding) for women without gestational diabetes, and 44 to 86 percent (depending on the duration of breastfeeding) for women with gestational diabetes, researchers said. Investigators looked at durations that included 0-1 month of lactation up to greater than 9 months of lactation.

Previous research has shown that lactating women have more favorable blood levels of glucose and lipids within several weeks after delivery than women who were not lactating. Other studies have reported much weaker protective associations of breastfeeding with the presence of Metabolic Syndrome and diabetes in middle-aged and older women.

Funded by the U.S. National Institutes of Health, this 20-year prospective study is the first to measure all components of Metabolic Syndrome both before pregnancy and after weaning in women of childbearing age, enabling researchers to examine breastfeeding in relation to new onset of Metabolic Syndrome, explained Gunderson.

“The findings indicate that breastfeeding a child may have lasting favorable effects on a woman’s risk factors for later developing diabetes or heart disease,” she said, explaining that the benefits don’t appear to be due to differences in weight gain, physical activity, or other health behaviors. However, in this study, less belly fat and higher levels of good cholesterol (HDL-C) were characteristic of women who did not develop Metabolic Syndrome, Gunderson said.

Among the 704 women who were aged 18 to 30 years at enrollment, had never previously given birth and were free of Metabolic Syndrome before all their pregnancies, there were 120 new cases of Metabolic Syndrome after pregnancies during 20 years of follow-up.

“The Metabolic Syndrome is a clustering of risk factors related to obesity and metabolism that strongly predicts future diabetes and possibly, coronary heart disease during midlife and early death for women,” Gunderson said.

“Because the Metabolic Syndrome affects about 18 to 37 percent of U.S. women between ages 20-59, the childbearing years may be a vulnerable period for its development. Postpartum screening of risk factors for diabetes and heart disease may offer an important opportunity for primary prevention.”

Recent studies suggest a stronger link between Metabolic Syndrome to diabetes than coronary heart disease.

Another recent Kaiser Permanente study by Gunderson published in the American Journal of Obstetrics and Gynecology in August 2009 found that women with gestational diabetes are 2.5 times more likely to develop Metabolic Syndrome after pregnancy.

Gunderson explained that further research is needed to learn more about the mechanism(s) through which lactation may influence risk of cardiovascular disease or diabetes. Further research also is needed to learn about whether lifestyle modifications, including lactation duration, may affect development of coronary artery disease and type 2 diabetes, particularly among high-risk groups, such as women with a history of gestational diabetes.

A study presented today at the annual meeting of the Radiological Society of North America (RSNA) revealed that MRI is a highly accurate means of identifying placenta accreta, a potentially life-threatening and increasingly common condition that is the leading cause of death for women just before and after giving birth.

“Due to the increase in cesarean sections and other surgeries that leave scarring on the uterine wall, coupled with women giving birth later in life, the incidence of accreta has increased dramatically over the past 20 years,” said lead researcher Reena Malhotra, M.D., a radiologist at the University of California, San Diego (UCSD) in La Jolla.

Placenta accreta, in which the placenta surrounding a fetus attaches too deeply to a woman’s uterus, is most dangerous when the condition is not detected until the time of delivery. When a placenta that is deeply attached to the uterus is delivered along with a baby, it pulls with it parts of the blood-rich uterine wall, rupturing blood vessels that can lead to severe hemorrhaging in the mother, as well as complications for the baby. Severe cases, particularly when undiagnosed, may lead to massive hemorrhage requiring blood transfusion, hysterectomy or death of the mother.

While routine prenatal ultrasound is often able to identify the presence of placenta accreta, it is not always able to definitively diagnose subtle cases.

To evaluate the accuracy of MRI in diagnosing placenta accreta, 108 patients underwent MRI evaluation at UCSD between 1992 and 2009. The women were referred for MRI based on a suspicious prenatal ultrasound or clinical examination or significant risk factors for the condition. Risk factors for placenta accreta include placenta previa (placenta covers all or part of the cervix), uterine scarring, prior cesarean births and, in some cases, pregnancies after the age of 35.

The researchers were able to compare the MR images with surgical and/or pathology results in 71 of 108 cases. When correlated with surgical and pathology findings, MRI had a 90.1 percent accuracy rate in detecting the presence of accreta. MRI does not expose the mother or fetus to ionizing radiation.

“Our findings demonstrate that MRI is an extremely useful adjunct to ultrasound for assessing this potentially life-threatening obstetric condition,” Dr. Malhotra said.

A 2005 study appearing in the American Journal of Obstetrics and Gynecology analyzed data from 64,359 births over 20 years (1982 – 2002) and reported an overall incidence of placenta accreta of one in every 533 deliveries. Women who have previously delivered a baby through a cesarean section have a greater risk for the condition by a factor of three. The risk escalates with each subsequent cesarean section. According to the latest data available from the Centers for Disease Control and Prevention and the National Center for Health Statistics, cesarean deliveries accounted for 31 percent of all U.S. births in 2006, an increase of 50 percent since 1996.

Once placenta accreta is diagnosed, a pregnancy is considered high risk, and specialists will carefully monitor a woman’s prenatal care and delivery.

“Having placenta accreta is not necessarily a bad prognostic indicator for the pregnancy,” Dr. Malhotra said. “It is not knowing about the condition that is potentially life threatening. Accreta needs to be diagnosed ahead of time so that delivery can be planned.”

The addition of a “genetic sonogram” maximizes the accuracy of non-invasive testing for Down syndrome, said a Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of Obstetrics and Gynecology.

“We wanted to be able to definitively describe the detection and accuracy of noninvasive prenatal screening for the detection of Down syndrome,” said Dr. Kjersti Aagaard, assistant professor of obstetrics and gynecology at BCM and the corresponding author of the report. “Using our data generated in the most comprehensive study performed to date (the FaSTER trial), we demonstrated that the addition of a genetic sonogram to all modes of screening in pregnancy allows for optimal noninvasive prenatal detection of Down syndrome.” (FaSTER stands for First and Second Trimester Evaluation of Risk.)

Noninvasive screening for Down syndrome (as well as the other major fetal genetic or chromosomal abnormalities in the developing baby) involves a specific early ultrasound and series of tests for biochemicals in the mother’s blood at particular times during pregnancy. Depending on the institution and clinic, tests are done during the first and/or second trimesters of pregnancy. Optimally, noninvasive screening also includes that a preliminary ultrasound to detect nuchal translucency takes place late in the first trimester. The test measures the clear or translucent space in the tissue at the back of the fetus’ neck. If there is an abnormality, fluid will accumulate in the back of the neck making the nuchal fold area larger.

In the first trimester, measured maternal serum markers include pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (beta hCG). In the second trimester, physicians measure alpha-fetoprotein, beta hCG, unconjugated estriol and inhibin A. The tests ordered and the combinations vary among institutions and clinics. Often, these tests are used as a basis for counseling women on the option of the more invasive but definitive tests such as amniocentesis, which involves directly measuring the chromosomal material in fetal cells found in the fluid inside the uterus, and chorionic villus sampling, an earlier means of obtaining fetal cells from tissue found in the placenta. Each is the definitive means of testing for genetic or chromosomal disorders that affect the fetus.

However, each of these invasive tests carries risk for potential complications, and many pregnant women seek to avoid those risks if at all possible. Because of this, researchers have spent several decades optimizing non-invasive prenatal diagnostic screening. One major component of this screening program has come to include the ‘genetic sonogram’. A genetic sonogram is simply a sophisticated ultrasound that details the fetal anatomy in the second trimester, looking for the presence of major fetal anomalies or specific anatomic features (so-called ‘soft markers’) that might be found in a child with Down syndrome, said Aagaard.

“Because we build off of the FaSTER trial, our reported adjusted risk measures we describe in this manuscript serve as definitive evidence that the sonogram improves the sensitivity of detection (making it less likely that a Down syndrome diagnosis would be missed) and also decreases the false positive rate,” said Aagaard. “Combining this with first or first and second trimester screening for biochemical markers gives us the maximal capacity to detect Down syndrome in a noninvasive fashion.”

Aagaard and her colleagues screened over 8,000 of the nearly 39,000 pregnant women who took part in the FaSTER trial of screening for chromosomal abnormalities (aneuploidy). The detection rate of Down syndrome babies varied from 69 percent for the genetic sonogram alone to as high as 98 percent with certain combinations of the biochemical markers. More importantly, the improved detection rate was accompanied by a decrease in the screening tests false positive rates (or falsely reported risk of Downs syndrome in a normal pregnancy).

“We did not miss a single case of Down syndrome with our overall screening program, which included an option for invasive testing,” she said. “Based on our findings, it is our expectation that this will serve as the definitive study with which clinicians can reliably inform women of their risk in a noninvasive fashion with currently available technology. At the end of the study, we wanted to give women a very clear take-home message as to how a genetic sonogram will improve accuracy of screening and detection of a Down syndrome baby. Because we compared the detection and false positive rate of every available screening strategy with the addition of genetic sonogram, we allow for women and their providers the unparalleled ability to maximize detection and minimize false concerns. Moreover, our study justifies what many high-risk obstetricians have done for years and provides refined screening estimates. It completes the spectrum of ‘informed choice’.”

A new study from Perth’s Telethon Institute for Child Health Research has found evidence that the amount and timing of alcohol consumption in pregnancy affects child behaviour in different ways.

The study has just been published online in the international journal Addiction.

Lead author Colleen O’Leary said the analysis was drawn from a random sample of more than 2000 mothers who completed a questionnaire three months after the baby’s delivery, and were then followed up when the child was 2, 5 and 8 years of age.

“Mothers who reported what we would classify as heavy drinking in the first trimester of pregnancy were nearly three times as likely to report that their child suffered with anxiety and/or depression or somatic complaints,” Ms O’Leary said.

“Those who drank moderately during that first trimester were twice as likely to report those types of behavioural issues for their child.

“Exposure to moderate or heavy levels of alcohol in late pregnancy increased the risk of aggressive types of behaviours in the child.

“This research suggests that both the timing and the intensity of alcohol exposure in the womb affect the type of behaviour problems expressed.”

In this study low levels of alcohol did not increase the risk of harm to the baby. However, the evidence clearly shows that the risk to the baby increases with increasing amounts consumed.

“It should also be noted that in this study moderate exposure is classified as drinking 3-4 standard drinks per occasion- that’s about two normal glasses of wine-and no more than a bottle of wine drunk over a week.”

Heavy drinking included women who were drinking the equivalent of more than a bottle of wine per week.

It is important that women who had consumed alcohol while pregnant are not panicked by the findings.

“Not every smoker gets lung cancer despite them being at higher risk – and in this case, not every child will be affected by prenatal exposure to alcohol. However it is important that women have this information about increased risk so that they can make informed decisions to give their child the best start to life,” Ms O’Leary said.

The National Health and Medical Research Council recommend that the safest choice for women who are pregnant or planning a pregnancy is to abstain from alcohol.

Ms O’Leary said health professionals can assist by talking to women of child bearing age about their alcohol consumption and encouraging pregnant women and women planning a pregnancy to abstain from alcohol.

Researchers have found that hormones produced during pregnancy induce a protein that directly inhibits the growth of breast cancer. This protein, alpha-fetoprotein (AFP), may serve as a viable, well-tolerated agent for the treatment and prevention of breast cancer, according to findings published in Cancer Prevention Research, a journal of the American Association for Cancer Research.

“Hormones in pregnancy, such as estrogen, all induce AFP, which directly inhibits the growth of breast cancer,” said lead researcher Herbert Jacobson, Ph.D., who is a basic breast cancer researcher in the Center for Immunology and Microbial Diseases and in the Department of Obstetrics, Gynecology and Reproductive Sciences at Albany Medical College, N.Y.

“The body has a natural defense system against breast cancer,” he added. “AFP needs to be safely harnessed and developed into a drug that can be used to protect women from breast cancer.”

Recent studies have shown that hormones released during pregnancy, such as estrogen, progesterone and human chorionic gonadotropin, reduce a women’s risk for breast cancer. AFP is a protein normally produced by the liver and yolk sac of a fetus. Jacobson and colleagues sought to determine whether administering pregnancy hormones to carcinogen-exposed rats led them to produce AFP, which in turn produces the protective effect of pregnancy in the absence of pregnancy.

Results from this study showed that treatment with estrogen plus progesterone, estrogen alone or human chorionic gonadotropin reduced the incidence of mammary cancers in rats. Furthermore, the researchers noted that each of these treatments elevated the serum level of AFP and that AFP directly inhibited the growth of breast cancer cells growing in culture, suggesting that these hormones of pregnancy are preventing breast cancer through their induction of AFP.

Cancer Prevention Research Editorial Board Member Powel Brown, M.D., Ph.D., said while these preclinical findings are important and suggest a role of AFP in breast cancer prevention, they are not yet ready to be used in the clinic.

“The researchers have not directly demonstrated the cancer preventive activity of AFP, instead they found an association of these hormones preventing mammary tumors. None of these treatments prevented mammary tumors in 100 percent of the rats, it appears to delay mammary tumor formation and prevent breast cancer development in approximately 30 to 50 percent of the rats,” said Brown, professor of medicine and cancer prevention and clinical cancer prevention department chairman at the University of Texas M. D. Anderson Cancer Center.

“This study is promising and suggests that additional animal studies need to be done before translation to humans,” he said. “We may want to further test AFP for its cancer prevention activity.”

The addition of a “genetic sonogram” maximizes the accuracy of non-invasive testing for Down syndrome, said a Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of Obstetrics and Gynecology.

“We wanted to be able to definitively describe the detection and accuracy of noninvasive prenatal screening for the detection of Down syndrome,” said Dr. Kjersti Aagaard, assistant professor of obstetrics and gynecology at BCM and the corresponding author of the report. “Using our data generated in the most comprehensive study performed to date (the FaSTER trial), we demonstrated that the addition of a genetic sonogram to all modes of screening in pregnancy allows for optimal noninvasive prenatal detection of Down syndrome.” (FaSTER stands for First and Second Trimester Evaluation of Risk.)

Noninvasive screening for Down syndrome (as well as the other major fetal genetic or chromosomal abnormalities in the developing baby) involves a specific early ultrasound and series of tests for biochemicals in the mother’s blood at particular times during pregnancy. Depending on the institution and clinic, tests are done during the first and/or second trimesters of pregnancy. Optimally, noninvasive screening also includes that a preliminary ultrasound to detect nuchal translucency takes place late in the first trimester. The test measures the clear or translucent space in the tissue at the back of the fetus’ neck. If there is an abnormality, fluid will accumulate in the back of the neck making the nuchal fold area larger.

In the first trimester, measured maternal serum markers include pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (beta hCG). In the second trimester, physicians measure alpha-fetoprotein, beta hCG, unconjugated estriol and inhibin A. The tests ordered and the combinations vary among institutions and clinics. Often, these tests are used as a basis for counseling women on the option of the more invasive but definitive tests such as amniocentesis, which involves directly measuring the chromosomal material in fetal cells found in the fluid inside the uterus, and chorionic villus sampling, an earlier means of obtaining fetal cells from tissue found in the placenta. Each is the definitive means of testing for genetic or chromosomal disorders that affect the fetus.

However, each of these invasive tests carries risk for potential complications, and many pregnant women seek to avoid those risks if at all possible. Because of this, researchers have spent several decades optimizing non-invasive prenatal diagnostic screening. One major component of this screening program has come to include the ‘genetic sonogram’. A genetic sonogram is simply a sophisticated ultrasound that details the fetal anatomy in the second trimester, looking for the presence of major fetal anomalies or specific anatomic features (so-called ‘soft markers’) that might be found in a child with Down syndrome, said Aagaard.

“Because we build off of the FaSTER trial, our reported adjusted risk measures we describe in this manuscript serve as definitive evidence that the sonogram improves the sensitivity of detection (making it less likely that a Down syndrome diagnosis would be missed) and also decreases the false positive rate,” said Aagaard. “Combining this with first or first and second trimester screening for biochemical markers gives us the maximal capacity to detect Down syndrome in a noninvasive fashion.”

Aagaard and her colleagues screened over 8,000 of the nearly 39,000 pregnant women who took part in the FaSTER trial of screening for chromosomal abnormalities (aneuploidy). The detection rate of Down syndrome babies varied from 69 percent for the genetic sonogram alone to as high as 98 percent with certain combinations of the biochemical markers. More importantly, the improved detection rate was accompanied by a decrease in the screening tests false positive rates (or falsely reported risk of Downs syndrome in a normal pregnancy).

“We did not miss a single case of Down syndrome with our overall screening program, which included an option for invasive testing,” she said. “Based on our findings, it is our expectation that this will serve as the definitive study with which clinicians can reliably inform women of their risk in a noninvasive fashion with currently available technology. At the end of the study, we wanted to give women a very clear take-home message as to how a genetic sonogram will improve accuracy of screening and detection of a Down syndrome baby. Because we compared the detection and false positive rate of every available screening strategy with the addition of genetic sonogram, we allow for women and their providers the unparalleled ability to maximize detection and minimize false concerns. Moreover, our study justifies what many high-risk obstetricians have done for years and provides refined screening estimates. It completes the spectrum of ‘informed choice’.”