- Email: [email protected]
284 Fetal Choroid Plexus Cysts: An Independent Risk Factor for Chromosomal Anomalies
356
SPO Abstracts
January 1992 Am J Obstet Gynecol
284 FErAL CHOROID PLEXUS CYSTS: AN INDEPENDENT RISK FACTOR FOR CHROMOSOMAL ANOMALIFS, fllr.tQ.M, Murata Y, Warneke LAX, Keegan, Jr KA. University of California Irvine Medical Center, Orange CA. This prospective, controlled study was designed to determine the inherent risk of fetal aneuploidy with sonographically detected choroid plexus cysts (CPC) in the 2nd trimester. 63 cases of CPC were detected in 3247 2nd trimester ultrasound examinations (1.9%). Our control group consisted of all patients who had an ultrasound examination and genetic amniocentesis, between 15 and 22 weeks gestation, by the same sonologist on the same day as a study subject with a CPC (N=21l). The two groups were demographically similar in maternal age and indication for examination (primarily: maternal age, abnormal AFP, previous anomaly). Six chromosomally abnormal fetuses: Trisomy 18 (3), Down syndrome (2), and Klinefelter syndrome were found in the CPC group (6/63, 9.5%). One fetus with Trisomy 21 was encountered in the control group, (1/211, 0.5%) [p < 0.002]. There was no correlation between bilaterality and chromosomal anomalies. Of note, 5 of 21 (23.8%) fetuses with CPC greater than 5mm in diameter had aneuploidy, compared with only I of 42 (2.4%) chromosomal anomalies with smaller cysts (p < 0.02). Two fetuses with CPC and aneuploidy had no other sonographically detected anomalies despite targeted scans including echocardiography. We conclude that fetal CPC is an independent risk factor for chromosomal anomalies. Based on our data, all patients with CPC should receive genetic counseling and be offered prenatal karyotype analysis.
285
EARLY AMNIOCENTESIS RELIABILITY AND SAFETY. A LONGITUDINAL FOLLOW-UP TO DELIVERY IN 400 CONSECUTIVE CASES. S. Iwanicki," M. Paninsorf, D. Cox", H. Pattinsotf, D. Kin~, Alberta
Hereditary Diseases Program, Calgary, AB, Canada Since 1989, advanced maternal age (;z: 35 Y at EDC) patients in our center have been given the option of early amniocentesis (EA, 9-14 weeks). Patients were counselled that local risk rates related to EA were unknown. The procedures
followed a detailed ultrasound (US) assessment and the taps were performed under
US guidance by an experienced obstetrician. Cell cultures were processed for chromosome preparations using the flask: method when EA was performed S 13 weeks, otherwise the in situ method was used. Results were monitored to determine the incidence of culture failure (CF). Patients were contacted 4 weeks post EA to assess for early complications and again 4-6 weeks post-pactum to evaluate for late complications. There were no stillbirths or neonatal deaths. Results are summarized in the table below with the percentage for each gestational age.
Gestational age (wIcs) 9
\0
11
12
13
14
TOTAL
No. of procedures 3 46 73 83 74 Culture failure 1(33) 6(13) 1(1.4) 0 (0) 1(1.4) Pseudomosaicism 0 (0) 0 (0) 0 (0) 0 (0) 4(5.4) Leakage/Bleeding 0 (0) 2 (4) 2(2.7) 0 (0) 2(2.7) Spontaneous Abortion 0 (0) 1(2.2) 0 (0) 2(2.4) 1(1.4) Pregnancy termination 1(33) 0 (0) 0 (0) 0 (0) 2(2.7) Preterm delivery 0 (0) 0 (0) 1(1.3) 1(1.2) 2(2.7) Congenital anomalies 0 (0) 1(2.2) 1(1.3) 1(1.2) 2(2.7) Lost to Follow-up 1(33) 1(2.2) 0 (0) 1(1.2) 1(1.4)
121 400 0 (0) 9(2.3) 5(1.3) 1(0.8) 7(1.8) 1(0.8) 6(1.5) 2(1.7) 3(0.8) 0 (0) 3'(2.5) 7(1.8) 6(1.5) 1(0.8) 5(1.3) 1(0.8) .. Includes one fonowing abdominal trauma and one twin pregnancy
Early experience showed that CF at < II weeks was unacceptably frequent
(14.3%). Procedures were then performed only at ~ 11 weeks, with a CF r&leof 0.6%. There were no more congenital abnormalities (2 club foot, 1 absent
patellae, I cleft lip, I cleft palate and I congenital hip dysplasia) than would be expected. This study suggests that the risks and reliability associated with EA compare favourably to those previously reported with traditional amniocentesis.
286 OUTCOME OF ANTENATALLY DIAGNOSED CYSTIC ADENOMATOID MALFORMATIONS (CAM) Jeffrey Kuller. Jerome Yankowitzx , James Goldberg, Michael Harrison'<, Roy Fillyx, Peter Callenx , Mitchell Golbusx Fetal Treatment Program Univ. Calif. Med. Ctr., San Fran., CA We reviewed our experience with 21 cases of fetal CAM diagnosed antenatally. Seventeen of these patients elected to continue pregnancy. In 9 cases, non-immune hydrops fetalis (NIHF) did lli21 develop and all these infants survived. In the remaining 8 cases, NIHF developed between 20-27 weeks. Fetal intervention was undertaken in 7 of the 8 cases. In the 1 case with NIHF in which intervention was not undertaken, the patient ruptured membranes at 33 menstrual weeks. The infant died of respiratory distress at 1 hour of life. In 3 cases, ultrasound guided needle aspiration of macrocystic lesions was performed. In one patient, preterm labor and delivery of a viable infant occurred 1 week later. In the other 2 fetuses, cystic fluid rapidly reaccumulated and cystoalT!niotic shunts were placed. In one patient, the catheter remained in place but the patient ruptured membranes 2 days later and delivered a previable fetus. In the other case, the catheter malfunctioned 2 days later and the patient underwent fetal surgery. In 5 patients, fetal surgery was performed (hysterotomy/resection of chest mass). Three infants survived and are doing well. One case is ongoing. The nonsurvivor died on day 2 of life with anasarca and severe respiratory compromise. The mother's course was complicated by severe preeclampsia ("mirror syndrome"). In cases where NIHF occurs early, fetal surgery may prove to be a viable therapeutic option.
287 MANAGEMENT OF FETAL HEMOLYTIC DISEASE NOT REQUIRING ANTENATAL TRANSFUSION THERAPY, C. x Weiner, L. EstJe , K. Wenstrom and S. Sipes. Dept. OB/GYN, Uni-;' la. College of Med., Iowa City, Ia. 52242 Direct evaluation of a fetal blood rather than an amniotic fluid
specimen permits the accurate identification of the fetus at risk to develop antenatal anemia secondary to maternal red cell alloimmunization (AmJObGyn, Oct 1991). Based on the recommended nomogram, 60% of affected fetuses require s2 cordocenteses and are permitted to deliver at term. Of the remaining group, 80% require transfusion therapy. We sought the risk of unexpected postnatal anemia and/or hyperbilirubinemia in those fetuses who prospectively were felt not to be at risk for antenatal anemia. Follow-up is presently available on 35140 (88 %) completed at risk pregnancies. 71 % were delivered by their referring physician at 38 ± 2w (range 34-41 w) with a BW of 3140 ± 565 gm. 24/35 (69%) had been placed in low to moderate risk groups and 69% underwent s2 cordocenteses. No procedure was performed after 35 w. The HCT at delivery was 46 ± 9% (range 24-58%) in the 17 neonates tested. There was one anemic neonate at birth (2.8%). On review, it was discovered that the risk pattern assigned to this fetus was in error. A second cordocentesis 4 weeks after the first should have been performed at 34w when this fetus may have already been anemic. Five (14%) underwent 1 or more double volume exchange transfusions for hyperbilirubinemia, and 4 (11 %) received a simple transfusion for anemia that developed ~ 48hrs after birth. 23/35 (66%) required some phototherapy (23-240 h). CONCLUSION: 1) The development of fetal anemia can be accurately predicted weeks prior to delivery. 2) Affected bat nonanemic neonates remain at risk for hyperbilirubinemia and hemolytic anemia and should be delivered in at least a secondary level hospilal.
SPO Abstracts
January 1992 Am J Obstet Gynecol
284 FErAL CHOROID PLEXUS CYSTS: AN INDEPENDENT RISK FACTOR FOR CHROMOSOMAL ANOMALIFS, fllr.tQ.M, Murata Y, Warneke LAX, Keegan, Jr KA. University of California Irvine Medical Center, Orange CA. This prospective, controlled study was designed to determine the inherent risk of fetal aneuploidy with sonographically detected choroid plexus cysts (CPC) in the 2nd trimester. 63 cases of CPC were detected in 3247 2nd trimester ultrasound examinations (1.9%). Our control group consisted of all patients who had an ultrasound examination and genetic amniocentesis, between 15 and 22 weeks gestation, by the same sonologist on the same day as a study subject with a CPC (N=21l). The two groups were demographically similar in maternal age and indication for examination (primarily: maternal age, abnormal AFP, previous anomaly). Six chromosomally abnormal fetuses: Trisomy 18 (3), Down syndrome (2), and Klinefelter syndrome were found in the CPC group (6/63, 9.5%). One fetus with Trisomy 21 was encountered in the control group, (1/211, 0.5%) [p < 0.002]. There was no correlation between bilaterality and chromosomal anomalies. Of note, 5 of 21 (23.8%) fetuses with CPC greater than 5mm in diameter had aneuploidy, compared with only I of 42 (2.4%) chromosomal anomalies with smaller cysts (p < 0.02). Two fetuses with CPC and aneuploidy had no other sonographically detected anomalies despite targeted scans including echocardiography. We conclude that fetal CPC is an independent risk factor for chromosomal anomalies. Based on our data, all patients with CPC should receive genetic counseling and be offered prenatal karyotype analysis.
285
EARLY AMNIOCENTESIS RELIABILITY AND SAFETY. A LONGITUDINAL FOLLOW-UP TO DELIVERY IN 400 CONSECUTIVE CASES. S. Iwanicki," M. Paninsorf, D. Cox", H. Pattinsotf, D. Kin~, Alberta
Hereditary Diseases Program, Calgary, AB, Canada Since 1989, advanced maternal age (;z: 35 Y at EDC) patients in our center have been given the option of early amniocentesis (EA, 9-14 weeks). Patients were counselled that local risk rates related to EA were unknown. The procedures
followed a detailed ultrasound (US) assessment and the taps were performed under
US guidance by an experienced obstetrician. Cell cultures were processed for chromosome preparations using the flask: method when EA was performed S 13 weeks, otherwise the in situ method was used. Results were monitored to determine the incidence of culture failure (CF). Patients were contacted 4 weeks post EA to assess for early complications and again 4-6 weeks post-pactum to evaluate for late complications. There were no stillbirths or neonatal deaths. Results are summarized in the table below with the percentage for each gestational age.
Gestational age (wIcs) 9
\0
11
12
13
14
TOTAL
No. of procedures 3 46 73 83 74 Culture failure 1(33) 6(13) 1(1.4) 0 (0) 1(1.4) Pseudomosaicism 0 (0) 0 (0) 0 (0) 0 (0) 4(5.4) Leakage/Bleeding 0 (0) 2 (4) 2(2.7) 0 (0) 2(2.7) Spontaneous Abortion 0 (0) 1(2.2) 0 (0) 2(2.4) 1(1.4) Pregnancy termination 1(33) 0 (0) 0 (0) 0 (0) 2(2.7) Preterm delivery 0 (0) 0 (0) 1(1.3) 1(1.2) 2(2.7) Congenital anomalies 0 (0) 1(2.2) 1(1.3) 1(1.2) 2(2.7) Lost to Follow-up 1(33) 1(2.2) 0 (0) 1(1.2) 1(1.4)
121 400 0 (0) 9(2.3) 5(1.3) 1(0.8) 7(1.8) 1(0.8) 6(1.5) 2(1.7) 3(0.8) 0 (0) 3'(2.5) 7(1.8) 6(1.5) 1(0.8) 5(1.3) 1(0.8) .. Includes one fonowing abdominal trauma and one twin pregnancy
Early experience showed that CF at < II weeks was unacceptably frequent
(14.3%). Procedures were then performed only at ~ 11 weeks, with a CF r&leof 0.6%. There were no more congenital abnormalities (2 club foot, 1 absent
patellae, I cleft lip, I cleft palate and I congenital hip dysplasia) than would be expected. This study suggests that the risks and reliability associated with EA compare favourably to those previously reported with traditional amniocentesis.
286 OUTCOME OF ANTENATALLY DIAGNOSED CYSTIC ADENOMATOID MALFORMATIONS (CAM) Jeffrey Kuller. Jerome Yankowitzx , James Goldberg, Michael Harrison'<, Roy Fillyx, Peter Callenx , Mitchell Golbusx Fetal Treatment Program Univ. Calif. Med. Ctr., San Fran., CA We reviewed our experience with 21 cases of fetal CAM diagnosed antenatally. Seventeen of these patients elected to continue pregnancy. In 9 cases, non-immune hydrops fetalis (NIHF) did lli21 develop and all these infants survived. In the remaining 8 cases, NIHF developed between 20-27 weeks. Fetal intervention was undertaken in 7 of the 8 cases. In the 1 case with NIHF in which intervention was not undertaken, the patient ruptured membranes at 33 menstrual weeks. The infant died of respiratory distress at 1 hour of life. In 3 cases, ultrasound guided needle aspiration of macrocystic lesions was performed. In one patient, preterm labor and delivery of a viable infant occurred 1 week later. In the other 2 fetuses, cystic fluid rapidly reaccumulated and cystoalT!niotic shunts were placed. In one patient, the catheter remained in place but the patient ruptured membranes 2 days later and delivered a previable fetus. In the other case, the catheter malfunctioned 2 days later and the patient underwent fetal surgery. In 5 patients, fetal surgery was performed (hysterotomy/resection of chest mass). Three infants survived and are doing well. One case is ongoing. The nonsurvivor died on day 2 of life with anasarca and severe respiratory compromise. The mother's course was complicated by severe preeclampsia ("mirror syndrome"). In cases where NIHF occurs early, fetal surgery may prove to be a viable therapeutic option.
287 MANAGEMENT OF FETAL HEMOLYTIC DISEASE NOT REQUIRING ANTENATAL TRANSFUSION THERAPY, C. x Weiner, L. EstJe , K. Wenstrom and S. Sipes. Dept. OB/GYN, Uni-;' la. College of Med., Iowa City, Ia. 52242 Direct evaluation of a fetal blood rather than an amniotic fluid
specimen permits the accurate identification of the fetus at risk to develop antenatal anemia secondary to maternal red cell alloimmunization (AmJObGyn, Oct 1991). Based on the recommended nomogram, 60% of affected fetuses require s2 cordocenteses and are permitted to deliver at term. Of the remaining group, 80% require transfusion therapy. We sought the risk of unexpected postnatal anemia and/or hyperbilirubinemia in those fetuses who prospectively were felt not to be at risk for antenatal anemia. Follow-up is presently available on 35140 (88 %) completed at risk pregnancies. 71 % were delivered by their referring physician at 38 ± 2w (range 34-41 w) with a BW of 3140 ± 565 gm. 24/35 (69%) had been placed in low to moderate risk groups and 69% underwent s2 cordocenteses. No procedure was performed after 35 w. The HCT at delivery was 46 ± 9% (range 24-58%) in the 17 neonates tested. There was one anemic neonate at birth (2.8%). On review, it was discovered that the risk pattern assigned to this fetus was in error. A second cordocentesis 4 weeks after the first should have been performed at 34w when this fetus may have already been anemic. Five (14%) underwent 1 or more double volume exchange transfusions for hyperbilirubinemia, and 4 (11 %) received a simple transfusion for anemia that developed ~ 48hrs after birth. 23/35 (66%) required some phototherapy (23-240 h). CONCLUSION: 1) The development of fetal anemia can be accurately predicted weeks prior to delivery. 2) Affected bat nonanemic neonates remain at risk for hyperbilirubinemia and hemolytic anemia and should be delivered in at least a secondary level hospilal.