the role of the perinatal autopsy in the management of prenatally detected fetal anomalies
TRANSCRIPT
455 OUTCOMES OF 616 FETUSES WITH SUSTAINED ARRHYTHMIA OR STRUCTURALCARDIAC DEFECT BETTINA CUNEO1, STEVEN AMBROSE2, JUDE DUVAL3,DON TAYLOR4, XAVIER POMBAR5, JAMES KELLER6, 1The Heart Institute for Chil-dren, Oak Lawn, Illinois, 2Advocate Medical Group, Maternal Fetal Medi-cine, Oak Lawn, Illinois, 3Sherman Hospital, Maternal Fetal Medicine,Elgin, Illinois, 4Suburban Maternal Fetal Medicine, Maternal Fetal Medicine,Hoffman Estates, Illinois, 5Rush University Medical Center, Obstetrics andGynecology, Chicago, Illinois, 6Lutheran General Hospital, Park Ridge,Illinois
OBJECTIVE: This study’s purpose was examining outcomes of fetuses withabnormal cardiac rhythm or structural cardiac defects (SCD) diagnosed byfetal echocardiography.
STUDY DESIGN: A retrospective cohort study of 616 fetuses referred to theHeart Institute for Children between 1996-2005 was conducted. SCD wereclassified as 4 chamber (4C), outflow tract (OT) defects, or other. Pregnancyoutcome and associated chromosomal or noncardiac defects were ascertainedby chart review. SCD were confirmed by echocardiography after birth. Alogistic regression model was fitted including diagnosis, chromosomal ornoncardiac abnormality, using the group with 4C and no chromosomal ornon-cardiac malformation as referent.
RESULTS: Sustained non-sinus arrhythmia was detected in 41 and SCD in575. Of those with SCD, 298 had 4C abnormalities, 214 had OT defects, and58 had other defects. Excluding patients in utero or awaiting surgery, overallmortality was 49%. Mortality was 12% for fetuses with arrhythmia (secondaryto either long QT syndrome or left atrial isomerism with complete AV block);and 56% for fetuses with chromosome or noncardiac abnormalities. Com-bined mortality (in utero and postnatal) was highest for tricuspid valvedysplasia/Ebsteins malformation and hypoplastic left heart syndrome (70%),and lowest for L-transposition (7.6%). Those with 4C SCD and non-cardiacmalformations had adjusted ORs for death of 2.9 (95% CI: 2.0-4.4) and 4.7(95% 2.2-9.9) respectively. Mortality declined over time (p for trend !.001).
CONCLUSION: Fetuses with 4 chamber structural cardiac anomalies,associated non-cardiac malformations or AV block associated with left atrialisomerism were at greatest risk of mortality. Over time, there was a significantdecline in mortality.
456 THE ROLE OF THE PERINATAL AUTOPSY IN THE MANAGEMENT OF PRENATALLYDETECTED FETAL ANOMALIES JAN E. DICKINSON1, DANIELLE PRIME2, ADRIANK. CHARLES1, 1University of Western Australia, Perth, Western Australia, Aus-tralia, 2King Edward Memorial Hospital, Perth, Western Australia, Australia
OBJECTIVE: To review the frequency of autopsy and its contribution tosubsequent counselling following pregnancy termination for prenatally de-tected fetal anomalies.
STUDY DESIGN: All cases of medical pregnancy termination performedafter 14 weeks gestation from 1/1997-7/2005 were prospectively identified. Thefrequency and characteristics of cases with perinatal autopsy were assessed.The prenatal diagnosis was then compared with the perinatal autopsy data anda final diagnosis developed. A potential autopsy value was then assigned: noadditional information provided, minor added value, significant added value,major added value or non-confirmation of the prenatal findings.
RESULTS: 846 consecutive women underwent pregnancy termination for aprenatally identified fetal anomaly. The principal indications for terminationwere: karyotypic (37.4%); neural tube defects (15.8%); cardiac (9.4%) andcerebral anomalies (7.4%). Fetal autopsy was performed in 705 cases (83.2%).The autopsy rate progressively declined from 95.1% in 1997 to 78.4% in 2005.Women declining autopsy were older (31 yrs (26,35) vs 32 yrs (27,37),p=0.038), delivered at later gestations (19 wks (18,20) vs 19.7 wks (17.7,22),p=0.05) and had an increased incidence of chromosomal abnormalities(32.3% vs 62.7%, p!0.001) (autopsy vs no-autopsy). When a karyotypicabnormality was not suspected prenatally, autopsy confirmed the prenataldiagnosis with no additional information in 66.3% (323/487). In 4 cases (0.8%)autopsy added major diagnostic information and in 13.1% significant infor-mation was provided, impacting upon subsequent risk counselling. Minoradditional information was provided in 18.9%. In 4 cases (0.8%) theprenatally detected anomaly could not be confirmed at autopsy.
CONCLUSION: The perinatal autopsy remains a valued part of management.In 33% of euploid cases autopsy provided either a conclusive diagnosis orclarification of the prenatally suspected diagnosis. Perinatal autopsy rates aredeclining and this trend may lead to a loss of diagnostic and counsellinginformation.
457 A ROLE FOR THE ANTI-ANGIOGENIC FACTOR SVEGFR-1 IN THE ‘‘MIRRORSYNDROME’’ (BALLANTINE SYNDROME) JIMMY ESPINOZA1, JYH KAE NIEN2,JUAN PEDRO KUSANOVIC1, KARINA RICHANI1, RICARDO GOMEZ3, CHONG JAIKIM4, POOJA MITTAL1, TINNAKORN CHAIWORAPONGSA1, ROBERTO ROMERO2,1Wayne State University School of Medicine, Department of Obstetrics andGynecology, Detroit, Michigan, 2Perinatology Research Branch, NICHD,NIH, DHHS, Bethesda, Maryland, 3Sotero del Rio Hospital, Center forPerinatal Diagnosis and Research, Santiago, Chile, 4Wayne State UniversitySchool of Medicine, Department of Pathology, Detroit, Michigan
OBJECTIVE: ‘‘Mirror Syndrome,’’ or Ballantine Syndrome, refers to theassociation of fetal hydrops, placentomegaly and severe maternal edema.Preeclampsia (PE) develops in approximately 50% of cases. Soluble vascularendothelial growth factor receptor-1 (sVEGFR-1), an anti-angiogenic factor,has been implicated in the genesis of PE. The objective of this study was todetermine if the maternal plasma concentration of sVEGFR-1 is elevated inpatients with ‘‘Mirror Syndrome.’’
STUDY DESIGN: This case-control study included patients with normalpregnancies (n=40) and patients with ‘‘Mirror Syndrome’’ (n=4), matchedfor gestational age. All plasma samples were obtained at the time of admissionand stored at �70(C. Maternal plasma sVEGFR-1 concentrations weredetermined using a specific ELISA. Non-parametric statistics were used foranalysis (significance: p!0.05).
RESULTS: 1) Patients with ‘‘Mirror Syndrome’’ had a higher medianconcentration of sVEGFR-1 than normal pregnant women (median: 3,974pg/ml, range: 3,083-10,780 vs median: 824 pg/ml, range: 260-4,712; p!0.001);and 2) All patients with ‘‘Mirror Syndrome’’ had sVEGFR-1 concentrationsabove the 95th percentile for gestational age.
CONCLUSION: High maternal plasma concentrations of sVEGFR-1 wereobserved in ‘‘Mirror Syndrome.’’ We propose that secretion of this anti-angiogenic factor, when there is fetal hydrops and placentomegaly, mayparticipate in the genesis of this condition. This observation may haveprognostic implications: the identification of the hydropic fetus who placesthe mother at risk for PE.
458 MANAGEMENT OF PREGNANCIES COMPLICATED BY ANTI-JKA ALLOIMMUNIZA-TION ALBERT FRANCO (F)1, KAREN ROSSI1, DAVE KRUGH2, RICHARDOSHAUGHNESSY1, 1Ohio State University, Obstetrics and Gynecology, Colum-bus, Ohio, 2Ohio State University, Pathology, Columbus, Ohio
OBJECTIVE: There is little available literature regarding anti-Jka alloimmu-nization. We review our experience at The Ohio State University MedicalCenter to elucidate management strategies.
STUDY DESIGN: We reviewed records from 1998 to 2004 to identifypregnancies managed for anti-Jka alloimmunization. Information regardingantibody titers, DOD450 values, Liley zones, fetal and neonatal hemoglobin(Hb) and antigen typing, fetal and neonatal direct antiglobulin test, andoutcomes was obtained. Pregnancies affected only by anti-Jka alloimmuniza-tion with a positive direct antiglobulin test or positive Jka antigen typing in thefetus or newborn were included.
RESULTS: A total of 53 pregnancies were identified with anti-Jka. Of these,14 pregnancies in 12 women were at risk for hemolytic disease of the newbornor fetus from anti-Jka only and had complete records. There were two womenwho had a total of 11 amniocenteses performed for DOD450 in 3 pregnancies.The amniocenteses were performed either for a titer greater than or equal to1:16 or having a previously affected pregnancy. There were no pregnancieswith fetal or neonatal anemia due to anti-Jka alloimmunization. There wereno perinatal deaths. Maximum DOD450 values of IIB were demonstrated in2 pregnancies and IIA in the remaining pregnancy for which amniocenteseswere performed. There were no in-utero or newborn transfusions. Onepatient delivered prematurely at 34 weeks GA for reasons unrelated toalloimmunization.
CONCLUSION: In our population, anti-Jka caused mild hemolytic disease ofthe fetus or newborn that did not require prenatal or neonatal transfusion.
S134 SMFM Abstracts