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Cystic fibrosis screening
S76 SMFM Abstracts 243
CYSTIC FIBROSIS SCREENING JOHN DACUS1, BILL MABIE2, THOMPSON GAILEY JR3, CREIGHTON LIKES4, LINDSEY METCALF5, CURTIS ROGERS5, 1Greenville Hospital System, Center for Women’s Medicine, Greenville, South Carolina, 2 Greenville Hospital System; Maternal-Fetal Medicine, OB/GYN, Greenville, South Carolina, 3Greenvile Hospital System; Center for Women’s Medicine, OB/GYN, Greenville, South Carolina, 4Greenville Hospital Center, OB/GYN, Greenville, South Carolina, 5Greenville Hospital System, Genetics, Greenville, South Carolina OBJECTIVE: To evaluate the effectiveness of cystic fibrosis screening in a resident prenatal clinic. STUDY DESIGN: Following the recommendations of the American College of Obstetricians and Gynecologists, and the American College of Medical Genetics, the Obstetric resident clinic at Greenville Memorial Hospital began offering cystic fibrosis counseling and screening to all patients beginning in July 2002. On each serum sample, 33 different cystic fibrosis mutations were analyzed with detection rates of 90% for North European Caucasians, 69% for AfricanAmericans, and 57% for Hispanics. RESULTS: Over the first two years of the program, 4572 patients were enrolled for prenatal care and 2231 (49%) elected carrier screening at a cost of $200 per patient for a total of $446,200. Of those screened, 1282 were Caucasian, 816 African-American, 106 Hispanic, and 27 others. Fifty-eight patients were found to be positive for cystic fibrosis mutation; 50 were Caucasian, 4 AfricanAmerican, 3 Hispanic, and 1 other. This carrier frequency is in line with what is expected. Nineteen of the expectant fathers elected to have carrier screening after counseling with none being identified as positive. CONCLUSION: Cystic fibrosis may not be prevalent enough to justify the cost of such a screening program in a resident prenatal clinic in the southeast.
245
UTERINE ANOMALIES AND OBSTETRIC OUTCOME KEN AHDOOT1, GARFIELD CLUNIE2, DAVID CHELMOW1, SABRINA CRAIGO2, 1Tufts-New England Medical Center, Obstetrics and Gynecology, Boston, Massachusetts, 2Tufts-New England Medical Center, Maternal Fetal Medicine, Boston, Massachusetts OBJECTIVE: To evaluate pregnancy outcomes in patients with known uterine anomalies managed using contemporary obstetric care. STUDY DESIGN: All patients managed at a single tertiary care center from 1994–2003 with a known uterine anomaly and pregnancy beyond 20 weeks were identified. Patients found to have an anomaly during the pregnancy were excluded. For patients managed through more than one pregnancy, only the first pregnancy outcome was used in the primary analysis. Patients were divided into groups based on type of anomaly. Groups were compared for maternal characteristics and pregnancy outcome, including maternal age, race, parity, gestational age (GA) at delivery, birth weight, premature rupture of membranes (PROM), preterm labor (PTL), abruption, cesarean section, and group providing care (perinatologists (MFM) or general obstetricians (GEN)). RESULTS: 61 patients had 80 pregnancies during the study period, of which 53 first pregnancies were analyzed. 72.5% patients were white, 63.2% were cared for by MFM, and mean age was 30.3 years (SD 5.2). Nine (16.9%) had a prior preterm delivery and 16 (30.2%) had a prior term delivery. Mean GA at delivery was 36.4 weeks (SD 5.6). 19 had a bicornuate uterus, 10 unicornuate, 12 septate, 10 didelphys and 2 t-shaped. Rates of adverse pregnancy outcome were high: PTL 39% 95% CI [26%,54%], PROM 13.7% [0%,25%], abruption 5.9% [0%,16%], malpresentation 31.9% [20%,43%], and CS 45.1% [32%,60%]. Patients with uterine didelphys had a higher rate of PROM, 40% vs 11.6% in the other groups, RR 3.26 [1.15,9.24]. The groups did not differ significantly in other outcomes. GA at delivery and rates of PTL, abruption, PROM, or malpresentation did not change significantly in women managed in more than one pregnancy. There was no difference between outcomes among women managed by MFM or GEN. CONCLUSION: Despite knowledge of uterine anomalies and close obstetric follow up, pregnancy complications are common in women with uterine anomalies. Uterine didelphys was associated with a significantly higher rate of PROM than the other types of anomalies.
244
THE ABILITY TO SPONTANEOUSLY CONCEIVE AFTER 45 YEARS OF AGE IS ASSOCIATED WITH AN EXCEPTIONALLY LOW RATE OF SPONTANEOUS ABORTIONS AND A DISTINCT PATTERN OF APOPTOSIS / ANTI APOPTOSIS GENE EXPRESSION PATTERN YUVAL GIELCHINSKY1, MICHAL LINIAL2, GIDEON RECHAVI3, NINETTE AMARIGLIO3, JASMINE JACOB-HIRSCH3, DAVID MANKUTA1, YOSSEF EZRA1, NERI LAUFER1, 1Hadassah Medical Center, The Hebrew University, Jerusalem, Obstetrics and Gynecology, Jerusalem, Israel, 2Hebrew University, Jerusalem, Israel, Life Sciences, Jerusalem, Israel, 3Sheba Medical Centre, Tel Aviv University, Tel Aviv, Israel, Pediatric Hematology-Oncology, Tel Aviv, Israel OBJECTIVE: To characterize parturients who conceived spontaneously after the age of 45 and to study their differential gene expression. STUDY DESIGN: The medical charts of 209 women who conceived spontaneously and had their most recent delivery after the age of 45 were reviewed. Spontaneous abortion rate was compared with data of the general population. Gene expression profile, of these women and a comparable group of women who did not deliver over the age of 45, was performed using Affymetrix RNA chip arrays. RESULTS: The mean age at last delivery was 46 years (range: 45–49). The mean parity was 9.6 children (range: 2–20). 81% of the women had more than 5 deliveries and 46% had more than 11. Increased parity did not have a protective effect on spontaneous abortion rate. Women in the study group had significantly lower spontaneous abortion rate compared with the general population; 11% vs. 18% at age 39, 13% vs. 34% at age 44 (P ! .001), and 9% vs. 34% at age 45 (P ! .001). A number of genes were differentially expressed between the two patient groups. Of note is a group of genes that play a major role in the apoptosis process (TNF receptor superfamily-member 6, CASP1, BCL2, programmed cell death 4, 6 and 10). CONCLUSION: Women who conceived spontaneously after 45 years of age were exceptionally fertile and had a remarkably low rate of spontaneous abortion when compared to the general population. This unique group of women seems to possess a genetic propensity that may delay the normal rate of ovarian and oocyte senescence. Compared to controls they demonstrate a unique apoptosis/anti apoptosis gene expression pattern.
246
ADVERSE OUTCOMES IN PREGNANCIES COMPLICATED BY SINGLE UMBILICAL ARTERY CARLOS TORRES1, B. DENISE RAYNOR1, 1Emory University at Grady Health Systems, Division of Maternal-Fetal Medicine, Atlanta, Georgia OBJECTIVE: Determine outcomes of pregnancies complicated by single umbilical artery (SUA). STUDY DESIGN: IRB approved study. Retrospective cohort utilizing ultrasound and obstetric databases. Sample included fetuses diagnosed with SUA by ultrasound between 2000-2004. Control consisted of a random sample of 10% of all deliveries at or after 28 weeks in 2003 with 3 vessel cord. Cases with incomplete data and other anomalies were excluded. IUGR was defined as birthweight !10th percentile for gestational age; very low birth weight (VLBW) as birthweight !1500 g; low birth weight (LBW) as 1501-2500 g. Statistical analysis performed using c2. RESULTS: Total of 44 fetuses with SUA. Seven (15.9%) had associated anomalies. The remaining 37, without associated anomalies, were included in the analysis. Controls included 326 fetuses with 3 vessel cord. Most women were African American or Hispanic. The SUA group was more likely to deliver before 37 weeks (P ! .02) and have higher rates of IUGR (P = .001), VLBW (P ! .05), and LBW (P = .002) compared to controls. Cesarean was also more common in the SUA group (35%, P ! .02). There were no differences in preeclampsia, labor induction, 5-minute Apgar. CONCLUSION: Fetuses with SUA but without associated anomalies are at increased risk for cesarean delivery, IUGR, LBW, VLBW and preterm delivery.
CYSTIC FIBROSIS SCREENING JOHN DACUS1, BILL MABIE2, THOMPSON GAILEY JR3, CREIGHTON LIKES4, LINDSEY METCALF5, CURTIS ROGERS5, 1Greenville Hospital System, Center for Women’s Medicine, Greenville, South Carolina, 2 Greenville Hospital System; Maternal-Fetal Medicine, OB/GYN, Greenville, South Carolina, 3Greenvile Hospital System; Center for Women’s Medicine, OB/GYN, Greenville, South Carolina, 4Greenville Hospital Center, OB/GYN, Greenville, South Carolina, 5Greenville Hospital System, Genetics, Greenville, South Carolina OBJECTIVE: To evaluate the effectiveness of cystic fibrosis screening in a resident prenatal clinic. STUDY DESIGN: Following the recommendations of the American College of Obstetricians and Gynecologists, and the American College of Medical Genetics, the Obstetric resident clinic at Greenville Memorial Hospital began offering cystic fibrosis counseling and screening to all patients beginning in July 2002. On each serum sample, 33 different cystic fibrosis mutations were analyzed with detection rates of 90% for North European Caucasians, 69% for AfricanAmericans, and 57% for Hispanics. RESULTS: Over the first two years of the program, 4572 patients were enrolled for prenatal care and 2231 (49%) elected carrier screening at a cost of $200 per patient for a total of $446,200. Of those screened, 1282 were Caucasian, 816 African-American, 106 Hispanic, and 27 others. Fifty-eight patients were found to be positive for cystic fibrosis mutation; 50 were Caucasian, 4 AfricanAmerican, 3 Hispanic, and 1 other. This carrier frequency is in line with what is expected. Nineteen of the expectant fathers elected to have carrier screening after counseling with none being identified as positive. CONCLUSION: Cystic fibrosis may not be prevalent enough to justify the cost of such a screening program in a resident prenatal clinic in the southeast.
245
UTERINE ANOMALIES AND OBSTETRIC OUTCOME KEN AHDOOT1, GARFIELD CLUNIE2, DAVID CHELMOW1, SABRINA CRAIGO2, 1Tufts-New England Medical Center, Obstetrics and Gynecology, Boston, Massachusetts, 2Tufts-New England Medical Center, Maternal Fetal Medicine, Boston, Massachusetts OBJECTIVE: To evaluate pregnancy outcomes in patients with known uterine anomalies managed using contemporary obstetric care. STUDY DESIGN: All patients managed at a single tertiary care center from 1994–2003 with a known uterine anomaly and pregnancy beyond 20 weeks were identified. Patients found to have an anomaly during the pregnancy were excluded. For patients managed through more than one pregnancy, only the first pregnancy outcome was used in the primary analysis. Patients were divided into groups based on type of anomaly. Groups were compared for maternal characteristics and pregnancy outcome, including maternal age, race, parity, gestational age (GA) at delivery, birth weight, premature rupture of membranes (PROM), preterm labor (PTL), abruption, cesarean section, and group providing care (perinatologists (MFM) or general obstetricians (GEN)). RESULTS: 61 patients had 80 pregnancies during the study period, of which 53 first pregnancies were analyzed. 72.5% patients were white, 63.2% were cared for by MFM, and mean age was 30.3 years (SD 5.2). Nine (16.9%) had a prior preterm delivery and 16 (30.2%) had a prior term delivery. Mean GA at delivery was 36.4 weeks (SD 5.6). 19 had a bicornuate uterus, 10 unicornuate, 12 septate, 10 didelphys and 2 t-shaped. Rates of adverse pregnancy outcome were high: PTL 39% 95% CI [26%,54%], PROM 13.7% [0%,25%], abruption 5.9% [0%,16%], malpresentation 31.9% [20%,43%], and CS 45.1% [32%,60%]. Patients with uterine didelphys had a higher rate of PROM, 40% vs 11.6% in the other groups, RR 3.26 [1.15,9.24]. The groups did not differ significantly in other outcomes. GA at delivery and rates of PTL, abruption, PROM, or malpresentation did not change significantly in women managed in more than one pregnancy. There was no difference between outcomes among women managed by MFM or GEN. CONCLUSION: Despite knowledge of uterine anomalies and close obstetric follow up, pregnancy complications are common in women with uterine anomalies. Uterine didelphys was associated with a significantly higher rate of PROM than the other types of anomalies.
244
THE ABILITY TO SPONTANEOUSLY CONCEIVE AFTER 45 YEARS OF AGE IS ASSOCIATED WITH AN EXCEPTIONALLY LOW RATE OF SPONTANEOUS ABORTIONS AND A DISTINCT PATTERN OF APOPTOSIS / ANTI APOPTOSIS GENE EXPRESSION PATTERN YUVAL GIELCHINSKY1, MICHAL LINIAL2, GIDEON RECHAVI3, NINETTE AMARIGLIO3, JASMINE JACOB-HIRSCH3, DAVID MANKUTA1, YOSSEF EZRA1, NERI LAUFER1, 1Hadassah Medical Center, The Hebrew University, Jerusalem, Obstetrics and Gynecology, Jerusalem, Israel, 2Hebrew University, Jerusalem, Israel, Life Sciences, Jerusalem, Israel, 3Sheba Medical Centre, Tel Aviv University, Tel Aviv, Israel, Pediatric Hematology-Oncology, Tel Aviv, Israel OBJECTIVE: To characterize parturients who conceived spontaneously after the age of 45 and to study their differential gene expression. STUDY DESIGN: The medical charts of 209 women who conceived spontaneously and had their most recent delivery after the age of 45 were reviewed. Spontaneous abortion rate was compared with data of the general population. Gene expression profile, of these women and a comparable group of women who did not deliver over the age of 45, was performed using Affymetrix RNA chip arrays. RESULTS: The mean age at last delivery was 46 years (range: 45–49). The mean parity was 9.6 children (range: 2–20). 81% of the women had more than 5 deliveries and 46% had more than 11. Increased parity did not have a protective effect on spontaneous abortion rate. Women in the study group had significantly lower spontaneous abortion rate compared with the general population; 11% vs. 18% at age 39, 13% vs. 34% at age 44 (P ! .001), and 9% vs. 34% at age 45 (P ! .001). A number of genes were differentially expressed between the two patient groups. Of note is a group of genes that play a major role in the apoptosis process (TNF receptor superfamily-member 6, CASP1, BCL2, programmed cell death 4, 6 and 10). CONCLUSION: Women who conceived spontaneously after 45 years of age were exceptionally fertile and had a remarkably low rate of spontaneous abortion when compared to the general population. This unique group of women seems to possess a genetic propensity that may delay the normal rate of ovarian and oocyte senescence. Compared to controls they demonstrate a unique apoptosis/anti apoptosis gene expression pattern.
246
ADVERSE OUTCOMES IN PREGNANCIES COMPLICATED BY SINGLE UMBILICAL ARTERY CARLOS TORRES1, B. DENISE RAYNOR1, 1Emory University at Grady Health Systems, Division of Maternal-Fetal Medicine, Atlanta, Georgia OBJECTIVE: Determine outcomes of pregnancies complicated by single umbilical artery (SUA). STUDY DESIGN: IRB approved study. Retrospective cohort utilizing ultrasound and obstetric databases. Sample included fetuses diagnosed with SUA by ultrasound between 2000-2004. Control consisted of a random sample of 10% of all deliveries at or after 28 weeks in 2003 with 3 vessel cord. Cases with incomplete data and other anomalies were excluded. IUGR was defined as birthweight !10th percentile for gestational age; very low birth weight (VLBW) as birthweight !1500 g; low birth weight (LBW) as 1501-2500 g. Statistical analysis performed using c2. RESULTS: Total of 44 fetuses with SUA. Seven (15.9%) had associated anomalies. The remaining 37, without associated anomalies, were included in the analysis. Controls included 326 fetuses with 3 vessel cord. Most women were African American or Hispanic. The SUA group was more likely to deliver before 37 weeks (P ! .02) and have higher rates of IUGR (P = .001), VLBW (P ! .05), and LBW (P = .002) compared to controls. Cesarean was also more common in the SUA group (35%, P ! .02). There were no differences in preeclampsia, labor induction, 5-minute Apgar. CONCLUSION: Fetuses with SUA but without associated anomalies are at increased risk for cesarean delivery, IUGR, LBW, VLBW and preterm delivery.