1/70. 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) |
2/70. Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?cyclophosphamide (CP) is an alkylating agent widely used in treating cancer and autoimmune disease. CP is classified as a pregnancy risk factor D drug and is teratogenic in animals, but population studies have not conclusively demonstrated teratogenicity in humans. Six isolated reports of prenatally exposed infants with various congenital anomalies exist, but to date no specific phenotype has been delineated. The purpose of this report is to document a new case of in utero CP exposure with multiple congenital anomalies and to establish an apparent CP embryopathy phenotype. The mother had systemic lupus erythematosus and cyclophosphamide exposure in the first trimester. She also took nifedipine, atenolol, clonidine, prednisone, aspirin, and potassium chloride throughout pregnancy. The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbits, proptosis, blepharophimosis, small, abnormal ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high-arched palate, micrognathia, preaxial upper limb and postaxial lower limb defects consisting of hypoplastic thumbs, and bilateral absence of the 4th and 5th toes. chromosomes were apparently normal. The reported cases of in utero exposure to cyclosposphamide shared the following manifestations with our patient: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects including hypoplastic thumbs and oligodactyly. We conclude that (a) cyclophosphamide is a human teratogen, (b) a distinct phenotype exists, and (c) the safety of CP in pregnancy is in serious question.- - - - - - - - - - ranking = 0.00087288503114378keywords = embryo (Clic here for more details about this article) |
3/70. 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) |
4/70. Hyperreactio luteinalis despite the absence of a corpus luteum and suppressed serum follicle stimulating concentrations in a triplet pregnancy.Hyperreactio luteinalis is characterized by moderate to marked cystic enlargement of the ovaries related to multiple theca lutein cysts and is associated with very high sex steroid concentrations. It is a rare condition especially in the first trimester. The case described below is believed to be the only case of hyperreactio luteinalis reported following frozen embryo transfer. This case provides an opportunity to gain further insight into the mechanism responsible for this unusual condition. The 30 year old woman demonstrated a slightly elevated LH/FSH ratio (5 and 3 mIU/ml respectively) and normal baseline androgen concentrations. Two years following oocyte retrieval she had a second frozen embryo transfer. The ovaries were normal size when the embryos were transferred and androgens were still normal. The ovaries did not begin to enlarge until 51 days from transfer. A dichorionic intrauterine pregnancy with monozygotic twins in the left gestational sac was seen. Eventually, 86 days from transfer, the ovaries enlarged to 145x103x116 mm right; and 83x95x117 mm left. serum oestradiol was 30 078 pg/ml, beta-human chorionic gonadotrophin (HCG) 239 920 mIU/ml, serum progesterone >160 ng/ml, total testosterone 2254 ng/dl, free testosterone 42.3 pg/ml and androstenedione 7328 ng/dl. Throughout the first trimester, serum FSH was <1 mIU/ml. Thus, neither FSH nor a corpus luteum is necessary to initiate this syndrome.- - - - - - - - - - ranking = 0.00052373101868627keywords = embryo (Clic here for more details about this article) |
5/70. Adrenal tissue in the placenta: a heterotopia caused by migration and embolism?Heterotopic adrenal tissue is not uncommon, especially in the urogenital system. Adrenocortical tissue in the placenta, however, is presumably very rare. To our knowledge, four cases have been published. There are several different theories to explain such a heterotopia. According to our findings, an embolic spread of adrenal precursor cells via fetal vascular shortcuts is the most likely mechanism. Apart from that hypothesis, the possibility of a monodermal teratoma as well as of an aberrant differentiation of cells of the extraembryonic mesoderm are considered in the literature.- - - - - - - - - - ranking = 0.00017457700622876keywords = embryo (Clic here for more details about this article) |
6/70. prenatal diagnosis of total arhinia.Complete or total arhinia, in which there is absence of the soft tissue of the nose, is extremely rare. The embryological origin of the defect is thought to be maldevelopment of the paired nasal placodes. Available neonatal case descriptions have reported the frequent coexistence of other facial anomalies. This report is the first to describe the antenatal diagnosis of total arhinia confirmed after delivery. Sonographic views of the fetal profile, showing an absence of the nose led to consideration of the diagnosis.- - - - - - - - - - ranking = 0.00017457700622876keywords = embryo (Clic here for more details about this article) |
7/70. Complications of triple pregnancy following intracytoplasmic sperm injection: a case report.A case is presented of pregnancy and delivery of triplets following intracytoplasmic sperm injection (ICSI) therapy. Although the outcome was satisfactory, with the birth of normal children free from any malformation, most of the obstetric and particularly the neonatal complications that can be associated with this therapy are illustrated in this case. In addition, from point of view of medical costs, concerns are raised about the current policy of multiple embryo transfer which is directly responsible for the high rate of multiple gestations observed in the IVF/ICSI programme. The authors consequently recommend a policy of transferring not more than two embryos per treatment cycle.- - - - - - - - - - ranking = 0.00034915401245751keywords = embryo (Clic here for more details about this article) |
8/70. methotrexate for cesarean scar pregnancy after in vitro fertilization and embryo transfer. A case report.BACKGROUND: Cesarean scar pregnancy is an exceedingly rare occurrence. We present the first case of cesarean scar pregnancy following in vitro fertilization-embryo transfer (IVF-ET). CASE: A 40-year-old woman with a history of a previous cesarean section presented with five years of unexplained infertility. The patient complained of abdominal pain 16 days after embryo transfer. ultrasonography revealed a gestational sac with cardiac activity located outside the lower segment of the uterus. dilatation and curettage was performed due to misdiagnosis of inevitable abortion. Two weeks later, repeated sonography demonstrated a sacculus, 4.07 x 4.07 cm, within the uterine isthmus with only 7.1 mm of thickness separating the sac from the urinary bladder. Normal cervical length without ballooning was noted. Cesarean scar pregnancy was diagnosed. Local injection of methotrexate (MTX) under ultrasound guidance was performed. plasma beta-hCG levels declined from 23,328 to 8 mlU/mL within two months. CONCLUSION: For women with cesarean scar pregnancy who desire fertility, conservative treatment using MTX is an excellent choice.- - - - - - - - - - ranking = 0.0010474620373725keywords = embryo (Clic here for more details about this article) |
9/70. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 0.00069830802491502keywords = embryo (Clic here for more details about this article) |
10/70. High maternal fever during gestation and severe congenital limb disruptions.Hyperthermia is defined as a temperature of at least 1.5 degrees C over the normal core body temperature. It is a proven teratogen in animals and in humans. The type of defects induced by hyperthermia in experimental animals are: anencephaly/exencephaly, encephalocele, microphthalmia, arthrogryposis, abdominal wall defects, limb deficiencies, embryonic death, and resorption. In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, hirschsprung disease, mobius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions. We describe an additional case with severe limb deficiencies whose mother had fever over 39 degrees C for 2 days in the second and in the fourth month of amenorrhoea. We conclude that, based on the degree of development of the humeri and the femora and the type of limb deficiencies, this case presents a disruption that most probably occurred in the fourth month of gestation.- - - - - - - - - - ranking = 0.00017457700622876keywords = embryo (Clic here for more details about this article) |
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