394 elevated alpha-fetoprotein in amniotic fluid and aneuploidy

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Volume 16.. SPO Abstracts 353 1\ umber 1, Part 2 392 PERSISTENTLY ELEVATED Y-SAFP: IS IT CLINICALLY SIGNIFICANT? Susan H. Shmoys, H.D., Laura Lesch*, R.N. SUNY Stony Brook, Stony Brook, NY 394 ELEYATm AlPHA-FETOPROTEII II AMIIIOne FLUID AND ANEUPLOIDY, Israel Goldstein', E. Albert Reece, Sandro Gabrielli', John Hobbins. Depart.nt of Obstetrics and Gynecology, Yale University, !lew Haven, CT; and 'Depart.ent of Obstetrics and Gynecology, IIaooba. MeIIIc:.l Center, Haifa. 393 The suggestion has been made that an elevat- ed AFP may be predictive of an abnormal out- come beyond those with congenital abnormal- ities. However, it is not known whether it is relevant if the elevation is transient or persistent. A prospective study was designed with all patients referred for ultrasound for an elevated AFP greater than 2.5 MOM and nor- mal evaluation had sequential AFP's obtained up to 24 weeks gestational age. Seventy one patients were divided into two groups: one that normalized (36) and one that remained elevated (35). These groups were comparable for past obstetric history, risks for pre- eclampsia and IUGR and maternal age. Outcome comparisons were made for premature delivery, IUGR, NICU admission, cis for fetal indica- tions, and abnormal placental pathology. Two patients in persistent group had placenta accreta. The persistent group was more likely (p=O.02) to have first trimester bleeding. No other differences were noted between the groups. The overall rate of IUGR ( 3%) was 11.2%. Statistical methods used included chi-square, Fisher's exact and student t-test as appropriate. EFFECT OF MATERNAL SMOKING AND AGE ON CONGENI- 395 TAL ANOMALIES. D.S. Seidman x1 , B. Chayen 1 , P. Ever-Hadani X2 , R. Gale x3 , lDep. Obst 2 t. Gynecol. Sheba Medical Center, Tel-Hashomer; Hebrew Univ. Hadassah School Public Health and Comm Med. Jerusalem, Israel. Dep. of Neonatology, Bikur Cholim Hospital, Jerusalem, Israel. The incidence of congenital anomalies was examined by the level of maternal and paternal smokinq during pregnancy for 17,152 infants. A logistic regression analysis was used to cont- rol for the possible confounding effects of maternal age, formal education, ethnic origin, religion, marital status, parity, social class, and work outside home. Both maternal and pater- nal smoking habits were not significantly asso- ciated with the occurrence of conaenital malfo- rmations. Maternal aqe was siqnificantly (0< 0.005) related to the incidence of major anoma- lies. Mothers aged 35 years and older who smo- ked, were found'to have a significantly 0.002) higher risk (adjusted Odds Patios 2.17; 95% Confidence Interval 1.38-3.39) for minor malformations, and an increased rate (adjusted Odds Ratios 1.82; 95% C:I. 0.76-4.33; non-siq- nificant) of major malformations. Maternal ci- garette smokina may be an important nreventable risk factor for congenital anomalies amonq mothers aged 35 years or more. Most prenatal diagnostic centers now ... sure alpha- fetoproteln (AFP) routinely In all second-trl ..... ter _iotic fluid .... ,les. The results of several studies have Indicated that _Iotlc flUid AFP ... su ....... ts are used .. Inly to diagnose open fetal neural tube and ventral .. 11 defects. The purpose of this study is to establish -an association bet"""" elevated ... Iotic fluid AFP and aneuploidy. Over a 16-.onth period, 42 - IOho unde ........ t ... iocenteses and presented with elevated AFPs were studied: gestational ages were bet"""" 15.5 and 20 weeks. Sonographic evaluation of each patient was also obtained. Levels of ... iotic fluid AFP were found to be 3 .. ltlple of the Edian. Indlc:.tions for karyotyping were: .. ternal age (16); elevated .. ternal ser.. AFP (21); polyhydr ... ios with absence of fetal stOllaCh (1); fetal ascites (1); twins (2); and previously affected child (1). Results: Overall abnor..lItles occurred In 26.2% (11/42) of patients: 4 cases of spina biflda; 1 gastroschises; 1 duodenal atresia; 1 twin with .. ltiple .. 1for..tlons; and 1 fetus with Meckel Synd....... In addition, we diagnosed 3 fetuses with chl'mllSCllllal abnor..lItles (7.1%): 1 with 45X0; 1 with 47XX+13; and 1 with 47XX+1B. The only Indication for karyotyping the 2 aneuploidy cases was elevated MSAFP. Sonography can be used to exclude the presence of structural Including ventral and dorsal wall defects; however, abnor..lities .. ,. coexist. Conclusion: Therefore, since elevated MSAFP can be associated with karyotypic analysis should be considered even in the absence of structural SONOGRAPHY AND MATERNAL SERUM ALPHA- FETOPROTEIN TESTING FOR CLEFf LIP/PAlATE. M. W. Carpenter, M. TronconeX.J.A Canickx. Brown University /Women & Infants' Hospital, Providence, Rhode Island. Maternal serum alpha-fetoproteln (MSAFP), a marker for open neural tube and ventral wall defects, may potentially selVe to IdentitY other cutaneous defects Including cleft lip/palate (CLP). We examined prenatal fetal testmg and birth outcome for all cases of CLP (67) diagnosed at Women & Infants' Hospital from January 1, 1985 to April 30, 1990. Cases with chromosomal abnonnallties (6), neural tube defects (1), ventral wall defect (2) and esophageal atresia (1) were excluded. Of the remaining 58 cases, 45 had second or third trimester sonography. CLP was sonographlcally diagnosed In none of 34 isolated cases and in only 1 of 11 cases associated with other abnonnalitles. MSAFP levels were measured in 24 cases and expressed as the multiple of the population median (MoM) for each completed week of gestation. Both the CLP and the unaffected groups had logarlthmlc MSAFP distributions. Therefore, a comparison of the dlstrlbutions In cases (n=24) and controls (n=3000) required a t-test on the log 10 MoM values (cases: -0.028 ± 0.168 VB. controls: 0.007 ± 0.190, mean ± sd). which showed no between-group difference. The lOth, 50th and 90th centile MSAFP MoM values for CLP cases were 0.55, 0.91 and 1.44. These data suggest that CLP, In the absence of other open defects, is not associated with elevated MSAFP and Is unlikely to be detected by routine sonography.

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Volume 16 .. SPO Abstracts 353 1\ umber 1, Part 2

392 PERSISTENTLY ELEVATED Y-SAFP: IS IT CLINICALLY SIGNIFICANT? Susan H. Shmoys, H.D., Laura Lesch*, R.N. SUNY Stony Brook, Stony Brook, NY

394 ELEYATm AlPHA-FETOPROTEII II AMIIIOne FLUID AND ANEUPLOIDY, Israel Goldstein', E. Albert Reece, Sandro Gabrielli', John Hobbins. Depart.nt of Obstetrics and Gynecology, Yale University, !lew Haven, CT; and 'Depart.ent of Obstetrics and Gynecology, IIaooba. MeIIIc:.l Center, Haifa.

393

The suggestion has been made that an elevat­ed AFP may be predictive of an abnormal out­come beyond those with congenital abnormal­ities. However, it is not known whether it is relevant if the elevation is transient or persistent. A prospective study was designed with all patients referred for ultrasound for an elevated AFP greater than 2.5 MOM and nor­mal evaluation had sequential AFP's obtained up to 24 weeks gestational age. Seventy one patients were divided into two groups: one that normalized (36) and one that remained elevated (35). These groups were comparable for past obstetric history, risks for pre­eclampsia and IUGR and maternal age. Outcome comparisons were made for premature delivery, IUGR, NICU admission, cis for fetal indica­tions, and abnormal placental pathology. Two patients in persistent group had placenta accreta. The persistent group was more likely (p=O.02) to have first trimester bleeding. No other differences were noted between the groups. The overall rate of IUGR ( 3%) was 11.2%. Statistical methods used included chi-square, Fisher's exact and student t-test as appropriate.

EFFECT OF MATERNAL SMOKING AND AGE ON CONGENI- 395 TAL ANOMALIES. D.S. Seidmanx1 , B. Chayen1, P. Ever-Hadani X2 , R. Galex3 , lDep. Obst2t. Gynecol. Sheba Medical Center, Tel-Hashomer; Hebrew Univ. Hadassah School o~ Public Health and Comm Med. Jerusalem, Israel. Dep. of Neonatology, Bikur Cholim Hospital, Jerusalem, Israel.

The incidence of congenital anomalies was examined by the level of maternal and paternal smokinq during pregnancy for 17,152 infants. A logistic regression analysis was used to cont­rol for the possible confounding effects of maternal age, formal education, ethnic origin, religion, marital status, parity, social class, and work outside home. Both maternal and pater­nal smoking habits were not significantly asso­ciated with the occurrence of conaenital malfo­rmations. Maternal aqe was siqnificantly (0< 0.005) related to the incidence of major anoma­lies. Mothers aged 35 years and older who smo­ked, were found'to have a significantly (p~ 0.002) higher risk (adjusted Odds Patios 2.17; 95% Confidence Interval 1.38-3.39) for minor malformations, and an increased rate (adjusted Odds Ratios 1.82; 95% C:I. 0.76-4.33; non-siq­nificant) of major malformations. Maternal ci­garette smokina may be an important nreventable risk factor for congenital anomalies amonq mothers aged 35 years or more.

Most prenatal diagnostic centers now ... sure alpha-fetoproteln (AFP) routinely In all second-trl ..... ter _iotic fluid ....,les. The results of several studies have Indicated that _Iotlc flUid AFP ... su ....... ts are used .. Inly to diagnose open fetal neural tube and ventral .. 11 defects. The purpose of this study is to establish -an association bet"""" elevated ... Iotic fluid AFP and aneuploidy. Over a 16-.onth period, 42 - IOho unde ........ t ... iocenteses and presented with elevated AFPs were studied: gestational ages were bet"""" 15.5 and 20 weeks. Sonographic evaluation of each patient was also obtained. Levels of ... iotic fluid AFP were found to be 3 .. ltlple of the Edian. Indlc:.tions for karyotyping were: .. ternal age (16); elevated .. ternal ser.. AFP (21); polyhydr ... ios with absence of fetal stOllaCh (1); fetal ascites (1); twins (2); and previously affected child (1). Results: Overall abnor..lItles occurred In 26.2% (11/42) of patients: 4 cases of spina biflda; 1 gastroschises; 1 duodenal atresia; 1 twin with .. ltiple .. 1for..tlons; and 1 fetus with Meckel Synd....... In addition, we diagnosed 3 fetuses with chl'mllSCllllal abnor..lItles (7.1%): 1 with 45X0; 1 with 47XX+13; and 1 with 47XX+1B. The only Indication for karyotyping the 2 aneuploidy cases was elevated MSAFP. Sonography can be used to exclude the presence of structural a~lies Including ventral and dorsal wall defects; however, ch~l abnor..lities .. ,. coexist. Conclusion: Therefore, since elevated MSAFP can be associated with ch~l a~lies, karyotypic analysis should be considered even in the absence of structural a~lies.

SONOGRAPHY AND MATERNAL SERUM ALPHA­FETOPROTEIN TESTING FOR CLEFf LIP/PAlATE. M. W. Carpenter, M. TronconeX.J.A Canickx. Brown University /Women & Infants' Hospital, Providence, Rhode Island.

Maternal serum alpha-fetoproteln (MSAFP), a marker for open neural tube and ventral wall defects, may potentially selVe to IdentitY other cutaneous defects Including cleft lip/palate (CLP). We examined prenatal fetal testmg and birth outcome for all cases of CLP (67) diagnosed at Women & Infants' Hospital from January 1, 1985 to April 30, 1990. Cases with chromosomal abnonnallties (6), neural tube defects (1), ventral wall defect (2) and esophageal atresia (1) were excluded. Of the remaining 58 cases, 45 had second or third trimester sonography. CLP was sonographlcally diagnosed In none of 34 isolated cases and in only 1 of 11 cases associated with other abnonnalitles. MSAFP levels were measured in 24 cases and expressed as the multiple of the population median (MoM) for each completed week of gestation. Both the CLP and the unaffected groups had logarlthmlc MSAFP distributions. Therefore, a comparison of the dlstrlbutions In cases (n=24) and controls (n=3000) required a t-test on the log 10 MoM values (cases: -0.028 ± 0.168 VB. controls: 0.007 ± 0.190, mean ± sd). which showed no between-group difference. The lOth, 50th and 90th centile MSAFP MoM values for CLP cases were 0.55, 0.91 and 1.44. These data suggest that CLP, In the absence of other open defects, is not associated with elevated MSAFP and Is unlikely to be detected by routine sonography.