Management of Friedreich Ataxia-Associated Cardiomyopathy in Pregnancy: A Review of the Literature.

A major manifestation of Friedreich ataxia (FRDA) is cardiomyopathy, caused by mitochondrial proliferation in myocytes. Because the lifespan for patients with FRDA improves with better treatment modalities, more patients are becoming pregnant, meaning that more medical providers must know how to care for this population. This report provides a review of the literature on multidisciplinary management of pregnant patients with FRDA and cardiomyopathy from preconception through lactation. A cardio-obstetrics team, including cardiology, anesthesiology, and obstetrics, should be involved for this entire period. All patients should be counseled on pregnancy risk using elements of existing stratification systems, and contraception should be discussed, highlighting the safety of intrauterine devices. Electrocardiogram should be obtained at baseline and each trimester, looking for atrial arrhythmias and ST-segment changes, as should transthoracic echocardiogram, with a focus on left ventricular ejection fraction-which is typically normal in FRDA cardiomyopathy-and relative wall thickness and global longitudinal strain-which tend to decrease as cardiomyopathy progresses. Brain natriuretic peptide is also a helpful marker to detect adverse events. If heart failure develops, it should be treated like any other etiology of heart failure during pregnancy. Atrial arrhythmias should be treated with ß blockers or electrical cardioversion and anticoagulation, as necessary. Most patients with FRDA can deliver vaginally, and neuraxial analgesia is recommended during labor because of the risks associated with general anesthesia. Breastfeeding is encouraged, even for those taking cardiac medications.

AACC Guidance Document on Laboratory Testing for the Assessment of Preterm Delivery.

Identifying women with preterm labor who will go on to deliver prematurely is crucial to improving outcomes for mother and baby and for saving healthcare resources. Even among those with symptoms, the number of women who deliver preterm is low, and thus the low positive predictive value (PPV) and high negative predictive value (NPV) associated with available biomarkers does not substantially reduce the uncertainty of the clinical diagnosis. While there is some promise in the use of fetal fibronectin (fFN), interleukin 6 (IL-6), or placental alpha microglobulin 1 (PAMG-1) for predicting preterm birth (PTB), their use is unlikely to provide considerable clinical value in populations with a low prevalence. To provide real clinical benefit, a biomarker must demonstrate a high PPV to allow identification of the minority of symptomatic women who will deliver prematurely. As none of the currently available biomarkers exhibit this performance characteristic, we do not recommend their routine clinical use in populations with a pre-test probability of PTB of <5%. Limiting biomarker testing to only high-risk women identified on the basis of cervical length or other characteristics will increase the pre-testprobability in the tested population, thereby improving PPV. PAMG-1 is associated with a higher PPV than fFN and may show clinical utility in populations with a higher pre-test probability, but further work is required to conclusively demonstrate improved outcomes in this patient group.

Diagnosis and management of unilateral third-trimester hydrocephalus: a multidisciplinary approach.

Hydrocephalus is a pathological increase in cerebrospinal fluid. This condition may occur when production exceeds absorption. Prior reports describe prenatally diagnosed unilateral hydrocephalus with varying outcomes depending on underlying brain abnormalities, karyotypic abnormalities, and infection. Prenatal ultrasound is a valuable diagnostic tool in the identification of hydrocephalus. Obstacles such as near-field artifact, additional intracranial abnormalities, fetal positioning, and maternal habitus often make the diagnosis difficult. Antenatal diagnosis is important for emotional preparation and for transfer to a tertiary center where appropriate facilities and subspecialists are available. We present a case of right-sided hydrocephalus and mild left-sided ventriculomegaly diagnosed in the third trimester. Fetal brain magnetic resonance imaging confirmed the sonographic diagnosis, which allowed the multidisciplinary fetal team to meet with the patient and formulate a management plan prior to delivery.

Seizure disorders in pregnancy.

This article discusses seizure disorders in pregnancy. Seizure disorder affects 1.1 million women of reproductive age in the United States. In 1995, the annual cost of treatment of patients who had epilepsy was estimated to be 12.5 billion dollars. Seizures are disorganized firing of neural cells. Epilepsy is the presence of two or more seizures in the absence of an identifiable cause for the seizures (ie, no intracranial or metabolic abnormality). Epilepsy has an impact on many aspects of women's health, particularly with respect to reproduction. The management of women who have epilepsy during pregnancy is the focus of this article.

Humerus length evaluation in different ethnic groups.

OBJECTIVE: Femoral length has gained much attention for its use as a marker for Down syndrome, and racial variation has been evaluated. We hypothesized that no racial differences in humerus length will be shown from 14 to 22 weeks' gestation. METHODS: Our sonography database was queried from January 1, 1994, to September 30, 2001, for obstetric sonographic examinations of singleton fetuses. Cases with incomplete data, fetal anomalies, and cases without documented ethnicity were excluded. Only 1 examination per fetus was used. Individual parameters were evaluated from 14 to 22 weeks' gestation in white non-Hispanic, Hispanic, African American, Asian, and Eastern Indian women. Linear regression was used to model the relation of humerus length to menstrual age and to compare the humerus length for gestational age among ethnic groups. We compared the sensitivity for Down syndrome detection from a standard expected humerus length formula and ethnic-specific formulas. RESULTS: We identified 1164 fetuses: 380 white, 224 Hispanic, 432 African American, 116 Asian, and 12 Eastern Indian. Comparing with white fetuses, we found differences in humerus length among African American (P < .001) and Asian (P < .001) fetuses but not among Hispanic fetuses (P = .98). The sensitivity for Down syndrome detection from standard and ethnic-specific formulas was identical. CONCLUSIONS: In this cohort, small differences in humerus length exist among ethnic groups. These differences did not affect the sensitivity of expected humerus length as a marker of Down syndrome in our diverse population.

Mirror syndrome. A case report.

BACKGROUND: Water retention in a pregnant woman can mirror fetal hydropic changes. This clinical presentation has been named "mirror syndrome." Awareness of the syndrome is important due to the associated fetal and maternal risks. CASE: A 26-year-old woman, gravida 3, para 1011, presented at 31 weeks' gestation with significant edema and a 7-km weight gain in one week. Sonographic evaluation revealed hydramnios and fetal ascites. Maternal workup was negative for preeclampsia, diabetes, or cardiac or renal dysfunction. A workup for nonimmune hydrops was also negative. Over the next three days there was progression of maternal edema. With diagnosis of mirror syndrome, the decision for delivery was made. Both neonate and mother subsequently did well, with normalization of ascites and edema, respectively. CONCLUSION: Our case, along with 19 reviewed in the literature, reiterate the features of mirror syndrome and provide an opportunity to dispel some of the misconceptions in the literature. The condition is frequently mistaken for preeclampsia, although distinguishing characteristics can be identified. Mirror syndrome is a manifestation of extremely severe fetal hydrops. When the specific cause of fetal hydrops cannot be identified and corrected, immediate delivery is necessary in order to avoid fetal death and maternal complications.