Second trimester maternal serum alpha-fetoprotein (MS-AFP), human chorionic gonadotrophin (hCG), unconjugated estiol (uE3), and inhibin-A (INH-A) levels were evaluated in pregnancies complicated by triploidy. In addition to seven new triploid pregnancies, the results for 67 published cases were reviewed. All cases appear to fall into two major groups. First, those identifiable as screen-positive for both Down syndrome and an open neural tube defect (ONTD) with elevated MS-AFP, grossly elevated hCG, low/normal uE3, and probably elevated INH-A. Pregnancies in the second group are identifiable as screen-positive for trisomy 18 with low/normal MS-AFP, and very low hCG, uE3 and INH-A. Triploid pregnancies with high maternal serum hCG nearly always show a placenta with partial mole (25/27 or 93%), a high frequency of ONTDs or ventral wall defects (VWDs) (8/28 or 29%) and have either an XXX or XXY karyotype (observed ratio 6:10, respectively). Low hCG is infrequently associated with a molar placenta (1/11 or 9%), does not appear to be associated with ONTDs or VWDs (0/29 or 0%), and shows an excess of XXX over XXY karyotypes (observed ratio 17:2). There were 16 cases with either a molar placenta, an ONTD or a VWD that received the MS-AFP and hCG tests. All 16 were screen-positive for an ONTD (MS-AFP> or =2 multiples of the median). In addition, all 31 cases that received MS-AFP, hCG, uE3 (and where available INH-A) were screen-positive for either Down syndrome or trisomy 18. The findings are discussed in the context of expected differences between digynic and diandric triploidy. It is suggested that the sex chromosome complement in triploidy is an important factor in determining risk for partial mole development and in utero survival.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.
. Department of P e d i a t r i c s , university o f California, san Diego, La J o l l a , C A 92093 3-Methylglutaconic a c i d u r i a has been described i n 7 p a t i e n t s i n whom urinary excretion of 3-methylglutaconic (3-MGC) and 3-methylglutaric (3-MGR) a c i d s were elevated. I n two s i b l i n g s t h e only manifestation was speech r e t a r d a t i o n . Combined excret i o n of 3-MGC and 3-MGR was 520-940 mmol/mol c r e a t i n i n e (normal l e s s than 6). The o t h e r p a t i e n t s had a p i c t u r e of severe neurol o g i c degeneration and profound mental r e t a r d a t i o n . Combined excretion of 3-MGC and 3-MGR ranged from a low o f 40 t o 800 m o l / m O l c r e a t i n i n e . The a c t i v i t y o f 3-methylulutaconyl-CoA (3-MGCoA) hydratase i n f i b r o b l a s t l y s a t e s derived from t h e s i b l i n g s with speech r e t a r d a t i o n was l e s s than 3% of t h e c o n t r o l l e v e l . In c o n t r a s t t h e a c t i v i t y of t h i s enzyme was normal i n t h r e e p a t i e n t s with t h e o t h e r c l i n i c a l phenotype. W e have postulated t h a t t h e excretion of 3-MGC and 3-MGR i n t h e p a t i e n t s with neurol o g i c a l abnormality i s a secondary accumulation i n response t o another primary d e f e c t not only because of t h e normal a c t i v i t y of t h e enzyme but because they a l s o excrete l a r g e q u a n t i t i e s of c i t r i c a c i d cycle intermediates. W e conclude t h a t t h e mild c l i ni c a l presentation of t h e s i b l i n g s we have s t u d i e d i s t h e c l i n i c a l p i c t u r e of 3-MG-CoA hydratase deficiency. These observations i n d i c a t e t h a t n e i t h e r t h e presence of nor t h e l e v e l of excretion of 3-MGC and 3-MGR c o r r e l a t e s with 3-MG-CoA hydratase deficiency. (Sponsored by Mark Ballow). Eleven p a t i e n t s with Hunter Syndrome (MPS f1) have been followed a t t h e University of Connecticut, of which 10 have been placed on a monthly leukocyte transfusion protocol. P o s i t i v e e f f e c t s of t h e transfusions have included softening of t h e skin and h a i r with r e s o l u t i o n of nodular skin l e s i o n s and diarrhea. W e have a l s o noted marked s u b j e c t i v e improvement of j o i n t d i scomfort i n those individuals who a r e a b l e t o communicate. No s i g n i f i c a n t improvement of macroglossia, organomegaly, s k e l e t a l , cardiovascular o r pulmonary changes have been noted.Previously, i t was f e l t t h a t m o r t a l i t y i n Hunter syndrome was frequently secondary t o cardiovascular complications. Our recent experience with 11 p a t i e n t s has shown t h a t t h e major morbidity i s r e l a t e d t o r e s p i r a t o r y disease, e s p e c i a l l y with regard t o upper airway compromise. Because of t h e unusual t r a c h e a l c a r t i l a g e conformation which develops i n these individuals, tracheostomy has been necessary i n 5/11 p a t i e n t s includi n g 213 individuals with t h e mild form of Hunter syndrome. Tr...
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