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11/388. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family.

    We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosphatase (AP) and a high value of pyridoxal-5-phosphate (PLP), one of its natural substrates. The screening for mutations of the tissue nonspecific alkaline phosphatase (TNSALP) gene showed homozygosity for a point mutation (G 317 --> D) in the two affected children of the first family. The affected child of the second family was homozygous for a nonsense mutation (R 411 --> X). family screening revealed that the determination of AP and PLP is helpful for detection of heterozygotes. However, heterozygote children had values of AP in the lower normal range during phases of rapid growth. The determination of PLP proved to be more sensitive in these cases. It should be kept in mind that during the last trimester of gestation there is an increase in maternal AP activity and a normalization of PLP due to placental AP, which is not affected. Therefore, in the course of a prenatal diagnosis in an index case, paternal blood should be analyzed in parallel. For detailed genetic counseling and early prenatal diagnosis in following pregnancies, the possibility of mutation analysis should be used. ( info)

12/388. Failure of amniotic septostomy in the management of 3 subsequent cases of severe previable twin-twin transfusion syndrome.

    INTRODUCTION: Amniotic septostomy has been described as a method to treat twin-twin transfusion syndrome. A case report of 3 patients treated in this way is described. CASE REPORT: Three subsequent patients, who presented with twin-twin transfusion syndrome, were treated by amniotic septostomy. All 3 showed initial improvement in the amniotic fluid volume and mobility of the donor fetus. However, all three pregnancies were lost within 5 days of the amniotic septostomy due to ruptured membranes and premature labour. CONCLUSION: In our experience, amniotic septostomy did not improve the pregnancy outcome in twin-twin transfusion syndrome. Possible reasons for this are discussed. ( info)

13/388. Are bilateral fetal lung masses double trouble?

    OBJECTIVES: To examine the perinatal natural history of bilateral fetal cystic lung masses. methods: The records of a tertiary medical center over a 3-year period were reviewed for cases of fetal bilateral pulmonary masses. RESULTS: Three of 98 fetuses referred for evaluation over a 3-year period from September of 1995 to August of 1998 had bilateral lung lesions. Two of these cases resulted in live births, while one, associated with hydrops, resulted in death after preterm delivery. CONCLUSIONS: Similar to prenatally diagnosed unilateral lung lesions, hydropic fetuses with bilateral cystic lung lesions have a poor prognosis. Nonhydropic fetuses, however, may be asymptomatic despite persistent lesions on postnatal CT scan. These observation may prove helpful for prenatal counseling for these rare lesions. ( info)

14/388. amniotic band syndrome in triplet pregnancy.

    We present a case of amniotic band syndrome leading to encephalocele in one triplet. In this case, discordance in fetal growth was observed at 9 weeks' gestation, and the amniotic membrane was not recognized in the sac of the smallest fetus. Thus, significant first-trimester growth discordance in multifetal pregnancies suggests congenital anomalies, and examinations considering amniotic band syndrome should be performed. Absence of the amniotic membrane in the gestational sac may be a useful marker of amniotic band syndrome. ( info)

15/388. Variations in maternal serum zinc during pregnancy and correlation to congenital malformations, dysmaturity, and abnormal parturition.

    serum zinc concentrations in 234 gravidae showed a gradual fall during the first and second trimesters. From the 25th week of gestation until delivery there is a levelling out of mean zinc values. No correlations between serum zinc, serum HCS, or urinary excretion of oestriol were found. women with mature infants born by normal delivery showed significantly higher serum zinc during pregnancy than women with abnormal deliveries and/or abnormally developed infants (p less than 0.001). Eight infants showed congenital malformations. Five of the 8 mothers showed the lowest serum zinc concentrations recorded during respective week of pregnancy. A diabetic woman gave birth to an immature infant with multiple skeletal malformations. She showed the lowest serum zinc in the 21st week, and at the same time a very low alkaline phosphatase activity. Her serum proteins and serum HCS were normal. women with dysmature infants showed significantly lower zinc values during pregnancy (p less than 0.02) than women with mature infants born by normal delivery. Data from studies on zinc metabolism show that there is a requirement of at least 375 mg of zinc during pregnancy in order to meet the demands of normal weight gain. Teenagers, women with multiple pregnancies, women with impaired intestinal absorption due to disease or drugs and in particular women with a low-protein, high-phytate diet seem to risk developing zinc deficiency during pregnancy. ( info)

16/388. Twin pregnancy in a uterus didelphys, with unilateral placental abruption and onset of labour.

    A dizygotic twin pregnancy with a fetus in each side of a uterus didelphys is described. An antepartum haemorrhage at 26 weeks' gestation, with subsequent onset of contractions in the right-sided uterus, precipitated delivery by Caesarean section. ( info)

17/388. Acardiac fetus in a triplet pregnancy: ultrasound pitfalls. A case report.

    This communication aims at illustrating ultrasound diagnostic difficulties in early pregnancy with acardiac fetus. Our case concerns a spontaneously conceived triplet pregnancy. It was diagnosed as a twin pregnancy at 11 weeks of amenorrhea. One and a half months later the patient was referred to our center for spontaneous premature rupture of membranes with the diagnosis of a fetal demise in a triplet pregnancy. The definite diagnosis of acardia was assessed sonographically by the presence of a reverse blood flow through the umbilical cord, reflex movements, limbs anomalies and discordance between femoral and crown-rump length. Two days after admission, the patient developed chorioamnionitis and the three fetuses were expelled. ( info)

18/388. streptococcus viridans intra-amniotic infection associated with antecedent cunnilingus.

    Introduction of bacteria into the amniotic cavity has been associated with oral sex through an ascending infectious route. Previous reports have implicated both capnocytophaga and fusobacterium nucleatum via this process. We report a case of streptococcus viridans intra-amniotic infection occurring at 25 weeks' gestation. Patient questioning revealed a close temporal relationship between the onset of symptoms and previous episodes of cunnilingus. The diagnosis of subclinical bacterial colonization of the amniotic fluid should be considered in patients presenting with preterm labour and no apparent aetiology. A history of recent cunnilingus may be associated with the presence of streptococcus viridans in the amniotic fluid. ( info)

19/388. Complications of intrauterine intervention for treatment of fetal obstructive uropathy.

    The intrauterine surgical placement of vesicoamniotic shunts in the treatment of fetal obstructive uropathy associated with prune-belly syndrome to avoid such complications as renal damage and oligohydramnios remains controversial. We present a case of an infant born with prune-belly syndrome at 33 weeks and 5 days of estimated gestational age to a mother of two by vaginal delivery after a pregnancy complicated by fetal obstructive uropathy with attempted intrauterine intervention. After sonographic and laboratory diagnostic and prognostic evaluations, an intrauterine procedure was performed in which a vesicoamniotic shunt was placed under ultrasound guidance. Complications included dislodgment of the initial shunt, with a failed subsequent attempt at placement, oligohydramnios, preterm labor and delivery, and traumatic gastroschisis through the surgical abdominal wall defect. His hospital stay was further complicated by chronic renal insufficiency, prematurity, respiratory distress, bowel malrotation, an episode of gram-negative sepsis with enterobacter cloacae, signs of liver failure, an exploratory laparotomy for severe enterocolitis, and orchiopexy for bilateral undescended testes. At present, it is unclear whether vesicoamniotic shunt placement can provide any significant improvement in the morbidity or mortality for patients with prune-belly syndrome. A large, prospective, randomized trial is needed to determine its efficacy. ( info)

20/388. Delayed interval delivery in multiple gestations.

    Two multiple pregnancies with delayed delivery after expulsion of dead fetus are presented. Case 1: A woman with a twin pregnancy and one intrauterine fetal death at 20 weeks' gestation delivered a dead fetus at 27 weeks' gestation. She delivered a healthy male infant weighing 2430 g at 33 weeks' gestation (42 d after the delivery of the first twin). Case 2: A woman with quadruplets pregnancy (2 live fetuses, one empty sac, and one fetocide at 7 weeks' gestation) got a intrauterine fetal death at 21 weeks' gestation at one fetus among 2 live fetuses and delivered a dead fetus at 24 weeks' gestation. She delivered a healthy female infant weighing 2110 g at 33 weeks' gestation (58 d after the delivery of a dead fetus). On the basis of our experience and the review of literature, delayed delivery with careful observation of fetal and maternal condition is recommended for improved survival and decreased morbidity among latter-born siblings. ( info)
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