Fertility and Pregnancy in Women with Transfusion-Dependent Thalassemia.

Because women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both mother and baby require concerted and collaborative efforts between the hematologist, obstetrician, cardiologist, hepatologist, and genetic counselor among others. Proactive counseling, early fertility evaluation, optimal management of iron overload and organ function, and application of advances in reproductive technology and prenatal screening are important in ensuring a healthy outcome. Many unanswered questions remain requiring further study, including fertility preservation, non-invasive prenatal diagnosis, chelation therapy during pregnancy, and indications and duration of anticoagulation.

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

OBJECTIVE: This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD: A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, time to test results, level of information, detection rate, false positive rate, miscarriage risk and costs. RESULTS: The questionnaire was completed by 596 (70.2%) pregnant women and 297 (51.7%) healthcare professionals, of whom 507 (85.1%) and 283 (95.3%), respectively, were included in further analyses as their choice behavior indicated prenatal testing was an option to them. Comparison of results showed differences in relative importance attached to attributes, further reflected by differences in willingness to trade between attributes. Pregnant women are willing to accept a less accurate test to obtain more information on fetal chromosomal status or to exclude the risk of procedure-related miscarriage. Healthcare professionals consider level of information and miscarriage risk to be most important as well but put more emphasis on timing and accuracy. CONCLUSION: Pregnant women and healthcare professionals differ significantly in their preferences regarding prenatal test characteristics. Healthcare professionals should take these differences into consideration when counseling pregnant women on prenatal testing.

Survey of second-trimester maternal serum screening in Japan.

AIM: Second-trimester maternal serum screening (MSS) is the predominant form of prenatal screening in Japan. We hypothesize that patient education and physician knowledge of Down syndrome (DS) screening are insufficient to provide adequate information regarding prenatal screening in Japan. MATERIAL AND METHODS: In-person or telephone interviews with medical personnel were conducted at 25 medical facilities utilizing Afp(4) (Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings) second trimester screening. We explored how medical facilities provided information about the MSS process to pregnant women. RESULTS: Before prenatal testing, 60% of medical facilities spent an average of less than 5 min per patient explaining the MSS process. The option of amniocentesis for chromosomal aneuploidy was explained at nearly all facilities, but only 60% explained the risk of amniocentesis. Ultrasound examination for open neural tube defects was explained only at half the facilities. Only five of 25 (20%) medical practitioners explained the possibility of having congenital disorders fetus. CONCLUSION: This study revealed that most obstetricians in Japan do not provide their patients with sufficient information about MSS.

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures]. / Évaluation de l'anxiété, de la douleur, et de leur prise en charge dans les gestes de diagnostic anténatal.

UNLABELLED: Invasive prenatal diagnosis procedures are numerous and more or less painful and stressful. The purpose of this study was to investigate maternal perception of both anxiety and pain before and after amniocentesis (AC) or transabdominal chorionic villus sampling (CVS), to determine factors associated with pain and anxiety, and to evaluate the pain support. This is a prospective study evaluating the professional practices at CHRU of Lille between March and May 2009 with 132 AC and 22 CVS by aspiration. An original questionnaire has been elaborated in three parts: the first one fulfilled by patients before the procedure, the second one, after the procedure, and the last one by the medical team. Statistical comparisons have used the Chi(2) test, the Fisher exact test, the Student's t test and the U test of Mann Whitney. RESULTS: The anxiety level is high but does not differ between the two groups AC and CVS. CVS are more painful than AC (EVA 5.77 versus 3.07, P<0.0001). No predisposing factor for anxiety has been found. On the other side, procedures are more painful when they are long lasting, considered difficult by the medical team, when needles used are large, the number of needle insertions increases, puncture is performed along a side of the uterus, patients are anxious, and then procedure indication is an hygroma. Patients are satisfied in 98.7% of cases of the support of the medical team. Few drug treatments was prescribed (only 4.5%), however, patients are generally applicant. CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol.

Neurotóxicos medioambientales (y II). Metales: efectos adversos en el sistema nervioso fetal y posnatal / Environmental toxins. Metals: adverse effects on the fetal and postnatal nervous systems

Objetivo. Divulgar entre los pediatras la neurotoxicidad del plomo (Pb), mercurio (Hg), manganeso (Mn) y cadmio (Cd) sobre el SNC y las medidas preventivas para minimizar y eliminar su uso en los hábitats fetal, infantil y juvenil. Material y métodos. Revisión bibliográfica sistemática de los efectos del Pb, Hg, Mn, y Cd en el SNC en desarrollo. Búsqueda en las bases de datos Medline, Science Citation Index y Embase de los últimos 20 años de los trabajos observacionales de exposición a bajas dosis en humanos y de experimentación en animales. Resultados. 1) Los principales efectos neurotóxicos de la exposición fetal e infantil a niveles incrementados de Pb son: déficit de atención, disminución del rendimiento y fracaso escolar, impulsividad, agresividad y conducta delictiva; 2) la exposición a Hg en dosis altas provoca retraso mental, alteraciones visuales y de la marcha, y en bajas dosis, del lenguaje, la atención y la memoria; 3) en diversas comunidades autónomas, la población pediátrica supera los límites de seguridad de ingestión de Hg recomendados por la U.S. Environmental Pro-tection Agency; 4) el Mn provoca trastornos de hiperactividad y aprendizaje; 5) la leche materna contiene 6 μg/L de Mn, las fórmulas artificiales unos 77 μg/L, si han sido suplementadas, alrededor de 100 μg/L, y las fórmulas de soja, hasta 300 μg/L; y 6) la exposición al Cd produce trastornos de hiperactividad, alteraciones de la capacidad verbal y disminución del coeficiente intelectual. Conclusiones. 1) Los efectos del Pb, Hg, Mn y Cd sobre el SNC fetal e infantil pueden aparecer con niveles inferiores a los considerados como «seguros»; 2) los pediatras debemos recomendar alternativas para minimizar y eliminar los metales neurotóxicos del entorno infantil; 3) es necesario cuantificar la ingestión diaria de Hg y reducir de forma cautelar el consumo de algunos peces (atún, caballa, emperador, perca, lucio...) en niños, madres lactantes y en mujeres embarazadas y en edades fértiles; 4) los lactantes con fórmulas artificiales ingieren más cantidad de Mn; y 5) las unidades de salud medioambiental pediátrica deben poner en marcha las historias ambientales en los niños con enfermedades neurológicas

Objective. To make pediatricians aware of the effects of the neurotoxicity of lead (Pb), mercury (Hg), manganese (Mn) and cadmium (Cd) on the CNS and inform them of the preventive measures that can minimize or eliminate their use in fetal, childhood and adolescent environments. Material and methods. A systematic literature search was carried out to explore the effects of Pb, Hg, Mn and Cd on the developing CNS. The search was carried out in the Medline, Science Citation Index and Embase databases and involved observational studies on low-dose exposure in humans and in laboratory animals over the past 20 years. Results. 1) The major neurotoxic effects derived from fetal and postnatal exposure to elevated levels of Pb are attention deficits, below average school performance, increased impulsiveness, aggressiveness and delinquent behavior. 2) Fetal exposure to high-dose Hg causes mental retardation and gait and visual disturbances, and fetal exposure to lower doses may cause lasting impairments in language, attention and memory. 3) In certain autonomous communities, the pediatric population surpasses the safety limits of Hg recommended by the US Environmental Protection Agency. 4) Mn causes hyperactivity and learning disabilities. 5) Breast milk contains 6 μg of Mn per liter; infant formulas about 77 μg/L; the latter, when supplemented, around 100 μg/L; and soy-based formulas up to 300 μg/L. 6) Exposure to Cd in children has been shown to result in hyperactivity and lower verbal and performance intelligence quotients. Conclusions. 1) The effects of Pb, Hg, Mn and Cd on the fetal and postnatal CNS can occur at lower levels of exposure considered "safe". 2) Pediatricians have to recommend alternatives to minimize and eliminate the neurotoxic metals in the childhood environment. 3) As a preventive measure, it is necessary to quantify and decrease the daily Hg intake of children, nursing mothers, pregnant women and women of reproductive age, and reduce the consumption of certain fish (tuna, mackerel, sword fish, perch, pike, etc.). 4) Formula-fed infants ingest a much greater quantity of Mn. 5) Pediatric Environmental Health Units should implement environmental histories in children with neurological disorders

Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?

Despite the fact that neural tube defects (NTDs) are the most common congenital malformations of the central nervous system, investigators have yet to identify responsible gene(s). Research efforts have been productive in the identification of environmental factors, such as periconceptional folic acid supplementation, that modulate risk for the development of NTDs. Studies of the folic acid biosynthetic pathway led to the discovery of an association between elevated levels of homocysteine and NTD risk. Researchers subsequently identified single nucleotide polymorphisms in the gene coding for the enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR). Association studies suggested it was a potential risk factor for NTDs, because the thermolabile form of the enzyme led to elevated homocysteine concentrations when folic acid intake is low. Numerous studies analyzing MTHFR variants have resulted in positive associations with increased NTD risk only in certain populations, suggesting that these variants are not large contributors to the etiology of NTDs. With our limited understanding of the genes involved in regulating NTD susceptibility, the paucity of data on how folic acid protects the developing embryo, as well as the observed decrease in birth prevalence of NTDs following folic acid supplementation and food fortification, it makes little sense for prospective parents to be tested for MTHFR variants, or for variants of other known folate pathway genes.

No evidence of hearing loss due to fetal acoustic stimulation test.

The fetal acoustic stimulation test is used increasingly for fetal assessment. To evaluate the possibility of acoustic trauma, 465 children who had been exposed to vibroacoustic stimulation in utero were screened at 4 years of age for high-frequency hearing loss. A hand-held audiometer with test tones at 25 dB for 1000 and 4000 Hz was used because responses at this level indicate hearing within normal limits for middle and high frequencies. Thirty-one children failed the test. Failure to respond was followed by inspection of the ear canal for wax, tympanometry, and reflex measurement to assess the tympanic membrane, middle ear, and eustachian tube. Hearing was retested across the full frequency range using conventional audiometric technique, and referral for otolaryngologic examination and treatment was made if necessary. The causes of hearing loss were impacted wax in 12, current or recent upper respiratory tract infection with eustachian tube dysfunction and middle ear effusion in 15, and unresolved middle ear effusion after treatment with antibiotics for otitis media in two. Profound bilateral sensorineural hearing loss of unknown origin was found in one and slight bilateral gently sloping hearing loss in another. Retesting of all children with conductive hearing loss indicated that hearing had returned to normal after treatment. None of the children showed evidence of hearing loss.