1/10. prenatal diagnosis of thyroid hormone resistance.A 29-yr-old woman with pituitary resistance to thyroid hormones (PRTH) was found to harbor a novel point mutation (T337A) on exon 9 of the thyroid hormone receptor beta (TRbeta) gene. She presented with symptoms and signs of hyperthyroidism and was successfully treated with 3,5,3'-triiodothyroacetic acid (TRIAC) until the onset of pregnancy. This therapy was then discontinued in order to prevent TRIAC, a compound that crosses the placental barrier, from exerting adverse effects on normal fetal development. However, as the patient showed a recurrence of thyrotoxic features after TRIAC withdrawal, we sought to verify, by means of genetic analysis and hormone measurements, whether the fetus was also affected by RTH, in order to rapidly reinstitute TRIAC therapy, which could potentially be beneficial to both the mother and fetus. At 17 weeks gestation, fetal dna was extracted from chorionic villi and was used as a template for PCR and restriction analysis together with direct sequencing of the TRbeta gene. The results indicated that the fetus was also heterozygous for the T337A mutation. Accordingly, TRIAC treatment at a dose of 2.1 mg/day was restarted at 20 weeks gestation. The mother rapidly became euthyroid, and the fetus grew normally up to 24 weeks gestation. At 29 weeks gestation mild growth retardation and fetal goiter were observed, prompting cordocentesis. Circulating fetal TSH was very high (287 mU/L) with a markedly reduced TSH bioactivity (B/I: 1.1 /- 0.4 vs 12.7 /- 1.2), while fetal FT4 concentrations were normal (8.7 pmol/L; normal values in age-matched fetuses: 5-22 pmol/L). Fetal FT3 levels were raised (7.1 pmol/L; normal values in age-matched fetuses: <4 pmol/L), as a consequence of 100% cross-reactivity of TRIAC in the FT3 assay method. To reduce the extremely high circulating TSH levels and fetal goiter, the dose of TRIAC was increased to 3.5 mg/day. To monitor the possible intrauterine hypothyroidism, another cordocentesis was performed at 33 weeks gestation, showing that TSH levels were reduced by 50% (from 287 to 144 mU/L). Furthermore, a simultaneous ultrasound examination revealed a clear reduction in fetal goiter. After this latter cordocentesis, acute complications occured, prompting delivery by cesarean section. The female neonate was critically ill, with multiple-organ failure and respiratory distress syndrome. In addition, a small goiter and biochemical features ofhypothyroidism were noted transiently and probably related to the prematurity of the infant. At present, the baby is clinically euthyroid, without goiter, and only exhibits biochemical features of RTH. In summary, although further fetal studies in cases of RTH are necessary to determine whether elevated TSH levels with a markedly reduced bioactivity are a common finding, our data suggest transient biochemical hypothyroidism in RTH during fetal development. Furthermore, we advocate prenatal diagnosis of RTH and adequate treatment of the disease in case of maternal hyperthyroidism, to avoid fetal thyrotrope hyperplasia, reduce fetal goiter, and maintain maternal euthyroidism during pregnancy.- - - - - - - - - - ranking = 1keywords = fetal development (Clic here for more details about this article) |
2/10. Successful outcome of pregnancy in a thyroidectomized-parathyroidectomized young woman affected by severe hypothyroidism.Severe hypothyroidism was discovered in a young woman in her 29th week of pregnancy. Previously, at the age of 12 years, she had undergone thyroid surgery for Graves' disease that resulted in persistent hypothyroidism and hypoparathyroidism. After surgical excision, the patient started levothyroxine replacement therapy and had regular control of thyroid function with normal findings throughout the years. The dose of levothyroxine had not been adjusted when the pregnancy started, and at the 29th week of gestation the patient had a thyrotropin (TSH) of 72.4 microU/mL. Ultrasound studies were performed in order to monitor fetal development. The fetal parameters analyzed before the adjustment of levothyroxine therapy showed growth retardation of various degrees. All analyzed fetal parameters (biparietal diameter, cranial and abdominal circumference, humerus and femur length) improved during the last 6 weeks of gestation, showing a good correlation with the newly achieved euthyroid state of the mother. The infant was clinically euthyroid at birth and was found normal at all evaluations of the neonatal hypothyroidism screening program (1, 5, 30 days).- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
3/10. amyotrophic lateral sclerosis associated with pregnancy: report of four new cases and review of the literature.Pregnancy in women with ALS is rare and is generally considered a potentially dangerous event. We describe four ALS cases associated with pregnancy, together with a review of the literature. Three of the four women described developed ALS during pregnancy. In three cases a normal delivery was performed, with a healthy child. One patient, with severe respiratory failure, underwent an interruption of pregnancy. Seven other cases are reported in the literature, featuring a total of 11 pregnancies. The association between pregnancy and ALS is quite rare, and a pathogenic relationship cannot be excluded. The pregnancy and the delivery may be normal, but respiratory function should be carefully monitored. Generally, ALS does not have deleterious effects on fetal development. However, pregnancy in a woman with severe respiratory failure may precipitate the disease.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
4/10. Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia.BACKGROUND: abetalipoproteinemia (ABL) is a metabolic disorder resulting in poor absorption of fat-soluble vitamins. CASE: Two pregnancies in a woman with ABL are reported, contrasting outcomes with subtherapeutic and normal vitamin levels. CONCLUSION: Fat-soluble vitamin levels in pregnancy are critical for many aspects of fetal development. This report details a congenital ophthalmologic finding that may be associated with vitamin a deficiency.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
5/10. Obstructive sleep apnea during pregnancy. Therapy and implications for fetal health.A 32 yr-old woman in her last trimester of pregnancy was found to have severe obstructive sleep apnea (OSA). The overnight polysomnogram demonstrated an apnea plus hypopnea index of 159 events per hour. Apneas were associated with severe oxygen desaturation to 40% during rapid eye movement sleep, maternal bradycardia, and second degree heart block. External cardiotocography showed normal fetal heart rate reactivity to fetal movements, even during the apneas and episodes of oxygen desaturation. Nasal continuous positive airway pressure at a level of 15 cm H2O effectively treated the apneas and desaturation and had no effect on the fetal heart rate. The patient was induced electively during the 39th wk of pregnancy and gave birth to a newborn with growth retardation. Early recognition and treatment of OSA in pregnancy might prevent problems with fetal development.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
6/10. Cardiovascular and respiratory agents during pregnancy: implications for fetal development.The management of common medical problems in pregnancy often requires adjustments in drug therapy to assure a healthy fetus. The management of steroid-dependent bronchial asthma in pregnancy requires oxygen supplementation as well as vigorous treatment of airway obstruction to protect the fetus from maternal hypoxemia. The hypertensive pregnant patient should discontinue dietary sodium restriction and diuretic therapy and should be managed with alphmethyldopa or beta-blocker therapy. hydralazine may be added if hypertension is severe. mitral valve prolapse appears to produce no difficulties during pregnancy and the use of prophylactic antibiotics is probably not necessary for routine vaginal delivery, unless complications occur. digoxin and quinidine are safe to use in pregnancy, provided careful monitoring is maintained. Oral anticoagulants are contraindicated in pregnancy and should be replaced with heparin if pregnancy is desired.- - - - - - - - - - ranking = 2keywords = fetal development (Clic here for more details about this article) |
7/10. Regression of pituitary microadenoma during and following bromocriptine therapy: persistent defect in prolactin regulation before and throughout pregnancy.During 5 years of clinical, endocrinologic, and radiologic observations in a woman with a microprolactinoma treated medically with bromocriptine for 29 months, serial hypothalamic-pituitary studies revealed a defect in lactotrope function after prolactin (PRL) concentrations and ovulation were restored to normal. This defect persisted throughout a spontaneously conceived pregnancy in which the PRL, estradiol, and progesterone levels were subnormal, while, the dehydroepiandrosterone sulfate levels were normal and estriol concentrations were elevated. Levels of the beta subunit of human chorionic gonadotropin (hCG) were close to and slightly above the normal ranges. These observations are consistent with a role for PRL, interacting with hCG, in the control of estrogen and progesterone secretion by the fetoplacental unit. lactation was initiated and maintained post partum. Pituitary function and PrL responses to suckling suggested improved lactotrope function 22 to 25 months after withdrawal of bromocriptine. The impaired lactotrope function, therefore, did not preclude normal implantation, pregnancy maintenance, onset of parturition, fetal development, and lactation.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
8/10. Nutrition support of a pregnant comatose patient via percutaneous endoscopic gastrostomy.A pregnant woman was comatose after a motor vehicle accident at 13 weeks' gestation. The nutritional needs of the patient were supported by tube feedings after percutaneous endoscopic gastrostomy. Clinical management was required for nutrition support, infection, and fetal development. At 37 weeks' gestation, a normal 3640-g male infant was delivered by cesarean section. This represents the first case report of a successful pregnancy outcome after percutaneous endoscopic gastrostomy for enteral nutrition support of a pregnant comatose patient.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
9/10. Familial dysalbuminemic hyperthyroxinemia in pregnancy.A 16-year-old pregnant Puerto Rican woman who had been treated for thyrotoxicosis previously was evaluated for goiter, increased total thyroxine (T4) and triiodothyronine (T3) and free T4 estimate, despite a normal thyroid-stimulating hormone (TSH) concentration. These findings are consistent with a TSH-producing pituitary adenoma or the syndrome of generalized thyroid hormone resistance. However, sera from the patient, her mother and subsequently her newborn daughter demonstrated the increased albumin binding of T4 but not T3 that is characteristic of familial dysalbuminemic hyperthyroxinemia (FDH). The free T4 estimate had been elevated artefactually by the increased affinity of FDH albumin for the analog in a one-step assay. The T3 and T4 concentrations were increased by pregnancy and T4 was increased further by FDH. This first report of FDH recognized during pregnancy emphasizes that the effects of pregnancy on thyroid hormone and TSH concentrations complicate the diagnosis of FDH. It is particularly important to distinguish this benign condition from thyrotoxicosis during pregnancy, because inappropriate treatment may affect fetal development.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
10/10. Gaucher's disease in pregnancy.Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, important for the physiologic recycling of cell membrane lipids. The clinical symptoms and disease presentations of Gaucher's disease are heterogeneous, including hepatosplenomegaly, bone "crisis" and fracture, anemia, thrombocytopenia and in some forms, rapid neurological decompensation. Similarly, the genetic variability of Gaucher's disease is diverse, and in some aspects affects phenotypic expression. Type 1 Gaucher's disease, however, usually present with less severe symptoms, at more advanced age, and is particularly amenable to enzyme replacement therapy with alglucerase. In type 1 patients with Gaucher's disease reproductive age is commonly reached and childbearing frequently desired with need for appropriate prenatal diagnosis, counseling and careful obstetrical surveillance. Although pregnancy concurrent with Gaucher's disease has been reported in the medical literature, only one small series of alglucerase treated Gaucher's disease during pregnancy exists. Without treatment, pregnancy concurrent with Gaucher's disease has several risks including an increased severity of anemia and thrombocytopenia that can potentiate postpartum bleeding, significant increases in organomegaly and possibly an increased spontaneous abortion rate. It is yet to be shown whether alglucerase reduces the risk of these complications during pregnancy and whether its use has any adverse effect on fetal development.- - - - - - - - - - ranking = 0.5keywords = fetal development (Clic here for more details about this article) |
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