Prevention of recurrent fetal loss caused by antiphospholipid syndrome.

Repeated fetal loss presents a challenge for both patients and health care professionals. Antiphospholipid syndrome (APS) may account for as much as 10% to 48% of recurrent fetal loss. Suggested pathophysiologic mechanisms of APS in fetal loss include the action of autoantibodies, the lupus anticoagulant, and anticardiolipin antibodies on the endothelial cells, which may lead to platelet aggregation, thrombosis, placental infarcts, and subsequently reduced oxygenation to the fetus. This study explores fetal loss caused by APS, its pathophysiologic features, treatment, and nursing implications. Heparin therapy is presented as a method to prevent intrauterine growth retardation and fetal death. The educational and psychosocial needs of patients receiving this therapy and necessary patient follow-up and coordination of services are reviewed.

A randomized multicenter trial assessing a home uterine activity monitoring device used in the absence of daily nursing contact.

OBJECTIVE: To evaluate the effectiveness of home uterine activity monitoring in the early detection of preterm labor among women with a history of preterm delivery. STUDY DESIGN: Two hundred eighteen women from four centers were prospectively randomized to routine high-risk prenatal care alone (not monitored) or to the same prenatal care with twice-daily home uterine activity monitoring without daily nursing support (monitored). All women had a history of preterm delivery. The primary study end point was cervical status as measured by cervical dilatation at the time of diagnosis of preterm labor. RESULTS: The two study group populations at entry into the study were similar in medical and demographic characteristics. Of 187 women completing the trial, 21 (24.4%) of the women in the monitored group (n = 86) and 22 (21.8%) of the women in the unmonitored (control) group (n = 101) experienced preterm labor (not significant). Mean cervical dilatation at the time of diagnosis of preterm labor was 1.7 cm in the monitored group and 2.8 cm in the unmonitored group (p = 0.004). A total of 52.4% of the women in the monitored group had a cervical dilatation of < 2 cm when preterm labor was detected, compared with 18.2% of the women in the unmonitored group (p = 0.019). The median duration of gestation after diagnosis of preterm labor was 21.0 days for the monitored group and 3.0 days for the unmonitored group (p = 0.016). CONCLUSION: The diagnosis of preterm labor for women using home uterine activity monitoring without daily nursing contact was detected with less cervical dilatation than found in those women not monitored. This earlier detection of preterm labor demonstrates the utility and effectiveness of home uterine activity monitoring devices and may lead to improved neonatal outcomes.

Prospective multicenter study of second-trimester nuchal skinfold thickness in unaffected and Down syndrome pregnancies.

OBJECTIVE: To determine the distribution of nuchal skinfold thickness in normal and Down syndrome pregnancies and to evaluate the use of this sonographic measurement as a screening test for fetal Down syndrome. METHODS: A prospective, multicenter, population-based study was performed by experienced obstetric sonographers on 1382 women with sonographically normal fetuses undergoing second-trimester amniocentesis for the indication of advanced maternal age. A standard, well-defined sonographic image was obtained at all collaborating centers. The distributions of nuchal skinfold thickness were compared between euploid and Down syndrome fetuses. RESULTS: There were 1346 chromosomally normal pregnancies, 13 fetuses with Down syndrome (1:106), and 23 other chromosome abnormalities. Seventeen fetuses had measurements of 6 mm or greater, and one of these had Down syndrome. The median nuchal skinfold thickness in Down syndrome was 3.2 mm and in euploid fetuses was 3.1 mm. By the Mann-Whitney rank-sum test, there was no statistically significant difference in nuchal skinfold between the euploid and Down syndrome fetuses (P = .5). Overall, using a nuchal skinfold thickness of 6 mm or greater as a screening test, the detection rate for Down syndrome was one of 13 (8%), the false-positive rate was 16 of 1382 (1.2%), the positive predictive value was one of 17 (6%), and the probability of detecting Down syndrome was 6.5%. CONCLUSION: In this investigation, excess nuchal skinfold thickness was a poor and unreliable screening test for Down syndrome.

Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia.

OBJECTIVE: Our purpose was to determine if cytogenetic discrepancies between fetal blood and amniotic fluid are present in fetuses with prenatally diagnosed diaphragmatic hernia. STUDY DESIGN: Chromosome analysis was performed on 15 fetuses with prenatally diagnosed diaphragmatic hernia. Fourteen had both amniotic fluid and fetal blood studies. One fetus had an amniocentesis followed by postnatal skin and peripheral lymphocyte chromosome analysis. RESULTS: In one fetus with a normal karyotype on fetal blood, amniotic fluid mosaicism for a supernumerary isochromosome 12p was identified. Another fetus had normal amniotic fluid chromosome analysis but was diagnosed with mosaic isochromosome 12p on skin biopsy after birth. Concordant aneuploidy in both fetal blood and amniocytes was found in five pregnancies (three with trisomy 18, one with an unbalanced translocation, and one with mosaic supernumerary isochromosome 12p). Eight fetuses had normal karyotypes. CONCLUSION: Because diaphragmatic hernia is a common component of mosaic isochromosome 12p syndrome and this chromosome abnormality is predominantly found in fibroblasts but not lymphocytes, an amniocentesis may be more accurate than fetal blood sampling in defining the true fetal chromosome status when diaphragmatic hernia is detected prenatally.

Increased risk of aneuploidy in women having unsuccessful chorionic villus sampling procedures.

OBJECTIVE: To determine the incidence of fetal aneuploidy in women who had unsuccessful chorionic villus sampling (CVS) procedures. DESIGN: Retrospective study. SETTING: Pennsylvania Hospital, Philadelphia, Pennsylvania, USA. SUBJECTS: Two thousand six hundred and sixty-eight women who underwent chorionic villus sampling, in 78 (2.9%) of whom villi could not be obtained. INTERVENTIONS: Sixty-nine of 78 (88%) women who had an unsuccessful CVS procedure underwent a subsequent amniocentesis later in the same pregnancy. MAIN OUTCOME MEASURES: The incidence of aneuploidy identified from amniotic fluid chromosome analysis in the 69 women who had an unsuccessful CVS procedure compared to the frequency of aneuploidy in women having a successful CVS procedure. RESULTS: Of the 69 women who underwent a post-CVS amniocentesis because of failure to obtain chorionic villi, six aneuploid pregnancies were identified (8.7%). The frequency of aneuploidy in the 2590 successfully sampled CVS patients was 2.5%. This difference was statistically significant (P = 0.009) by Fisher's exact test (two-tailed). CONCLUSIONS: Women having an unsuccessful CVS procedure should be informed that they may be at increased risk for carrying an aneuploid fetus.

Heparin therapy for congenital antithrombin III deficiency in pregnancy.

A patient with congenital antithrombin III deficiency and a history of thromboembolic events prior to pregnancy was successfully treated with subcutaneous heparin alone throughout two pregnancies. Although adjuvant antithrombin III infusions may have a role in the treatment of this disorder, especially in the peripartum period, there is no evidence that this approach is superior to heparin therapy alone. We present this case as further evidence that heparin therapy alone appears to be a safe and effective treatment for pregnant patients with this rare but serious disorder.

Chorionic villus sampling followed by amniocentesis in the same pregnancy.

In our consecutive series of 2,574 chorionic villus sampling (CVS) patients, 146 women (5.7%) underwent a subsequent amniocentesis in the same pregnancy for the indications of absent or insufficient villi (3.3%), elevated maternal serum alpha-fetoprotein (0.93%), CVS mosaicism (0.89%), culture failure (0.23%), specimen contamination (0.15%), and CVS aneuploidy (0.12%). Patients presenting for a CVS should be informed of the possible need for a subsequent amniocentesis in the same pregnancy. There is a need for individual prenatal diagnosis programs to analyze their own data and provide genetic counseling information which pertains specifically to their institution.

Idiopathic arterial calcification of infancy: prenatal and postnatal effects of therapy in an infant.

In an infant with idiopathic arterial calcification of infancy, prenatal diagnosis of arterial calcification was made by ultrasonography and allowed initiation of therapy in utero. Etidronate therapy produced apparent radiographic and ultrasonographic improvement in the degree of vascular calcification but did not prevent the lethal progression of intimal vascular occlusive disease.

Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome.

Prenatal diagnosis of a posterior nuchal cystic hygroma was made at 13 weeks of gestation in a fetus diagnosed at birth with Noonan syndrome. Through serial sonographic evaluation during pregnancy, the embryologic evolution of cystic hygroma into nuchal skin thickening was appreciated and later correlated with postnatal findings of nuchal skin fold redundancy and pterygium colli in a patient with Noonan syndrome. These observations support the concept of the jugular lymphatic disruption sequence as pathogenesis of the nuchal findings in severely affected Noonan syndrome patients.

Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic, monozygotic co-twin.

Selective termination by intracardiac potassium chloride injection was performed in twins discordant for hydrocephaly at 20 weeks' gestation. Because of the potential for vascular anastomoses to exist between the twins, fetal angiography was performed prior to the selective termination procedure. Determination of vascular connections between the fetuses was hindered by fetal bradycardia following intracardiac administration of contrast material. Selective termination was performed without difficulty using intracardiac potassium chloride (KCl) to produce asystole in the twin with hydrocephaly. The unaffected fetus appeared active and had a normal heart rate during and immediately after the procedure. However, both twins were found to have died the following day. Pathologic examination documented several vascular anastomoses between the monochorionic, diamniotic fetuses. A likely cause of death was exsanguination of the normal twin into the abnormal one. This case illustrates the difficulties encountered in selective termination of monozygotic twins and, to our knowledge, represents the first reported use of intrauterine fetal angiography.

Percutaneous fetal umbilical blood sampling: procedure safety and normal fetal hematologic indices.

Percutaneous umbilical blood sampling allows direct access to the fetal circulation. We describe our experience with the procedure in the first 100 patients whose fetuses were at risk for hemolytic anemia, chromosomal abnormalities, coagulopathy, or intrauterine infection. Hematologic indices, including hemoglobin, hematocrit, red blood cell count, white blood cell count, and platelet count, were analyzed from 50 of the fetuses who were normal at delivery. Normal values and gestational age regression curves (from 17 to 37 weeks' gestation) are presented. The technique and complications of the procedure are described. Percutaneous umbilical blood sampling affords useful information in prenatal diagnosis and entails a low rate of complications.

Does early diagnosis and delivery in acute fatty liver of pregnancy lead to improvement in maternal and infant survival?

Two cases of acute fatty liver of pregnancy resulting in maternal and infant survival are described. There have only been six such cases reported previously. The two described here are unique because the diagnosis was made prepartum by an oil red O stain of a frozen section of a liver biopsy, and the patients were promptly delivered by cesarean section under spinal anesthesia. The role of early diagnosis and delivery in this disease is discussed.

Ultrasound in the evaluation and management of the isoimmunized pregnancy.

Real-time ultrasound was a valuable adjunct in the management of 57 consecutive isoimmunized pregnancies. The pathophysiology of hydrops fetalis as it affects the sonographic anatomy of the fetus and placenta is discussed. Real-time ultrasound was slightly more accurate than amniotic fluid bilirubin analysis in predicting moderate to severe erythroblastosis fetalis. The most useful finding was a disproportionate growth of the fetal abdominal circumference in relationship to the biparietal diameter. Ultrasound proved invaluable in several difficult situations, such as contaminated amniotic fluid, ruptured membranes, and twins. Suggestions for the further quantitation of this diagnostic test are explored.

Antenatal diagnosis and treatment of a fetal goiter.

The sonographic diagnosis of a fetal goiter, confirmed at delivery, is described in a fetus exposed to large doses of propylthiouracil, which was administered to the mother. The pregnancy was also complicated by recalcitrant premature labor secondary to polyhydramnios. The intraamniotic instillation of thyroxine decreased the size of the fetal goiter, and numerous therapeutic amniocenteses permitted continuation of the pregnancy, so a mature infant with a goiter but no airway obstruction was delivered. Amniotic fluid reverse-T3 assays confirmed fetal utilization of the thyroxine. Fetal thyroid physiology is discussed briefly along with the benefits of the antenatal sonographic diagnosis of fetal goiter.