Neural tube defects syndromes

Screens for Down s syndrome and neural tube defects (at 15-20 weeks)... 

Cytochrome P450 inducer (oral contraceptive failure) Autoinduction Rare blood cell dyscrasias aplastic anemia, agranulocytosis Hepatotoxicity Rash risk, including Stevens-Johnson syndrome Risk for SIADH Teratogenicity risk neural tube defects, craniofacial defects... 

Folic acid deficiency, unlike vitamin B12 deficiency, is often caused by inadequate dietary intake of folates. Patients with alcohol dependence and patients with liver disease can develop folic acid deficiency because of poor diet and diminished hepatic storage of folates. Pregnant women and patients with hemolytic anemia have increased folate requirements and may become folic acid-deficient, especially if their diets are marginal. Evidence implicates maternal folic acid deficiency in the occurrence of fetal neural tube defects, eg, spina bifida. (See Folic Acid Supplementation A Public Health Dilemma.) Patients with malabsorption syndromes also frequently develop folic acid deficiency. Patients who require renal dialysis develop folic acid deficiency because folates are removed from the plasma during the dialysis procedure. 

The teratogenic syndrome of in utero VPA exposure in humans includes neural, craniofacial, cardiovascular, and skeletal defects. A similar teratology is exhibited in rodents, rabbits, and nonhuman primates. The most dramatic of malformations associated with gestational VPA exposure is spina bifida, a neural tube defect that is estimated to occur in 1-2% of VPA exposed infants. Mice are the only known animal model to exhibit a comparable effect of VPA on neural tube development. 

Open neural tube defects, Down syndrome, and trisomy 18 (discussed separately below) are fetal anomalies that are partially detectable by maternal serum screening. However, because of the large number of pregnancies screened, and the interest in other fetal conditions and their possible association with abnormal maternal serum analyte concentrations, a wealth of associations between rarer conditions and screening results has been pubhshed. These findings are never diagnostic and are reported rarely by the screening laboratory. In certain circumstances, however, the healthcare provider may determine a need for more extensive medical evaluation. 

There is no compelling evidence that the rate of Down syndrome births in women with IDD is substantially different from that in the general population. However, there is evidence that birth prevalence of open neural tube defects is higher by up to a factor of 5. Thus at a given AFP MoM concentration, women with IDD are at a substantially higher risk of open neural tube defects than the general population. This can be taken into account by lowering the AFP MoM cutoff from, for example, 2.0 to 1.5. 

Knight GJ, Palomaki GE. Epidemiologic monitoring of prenatal screening for neural tube defects and Down syndrome. Chn Lab Med 2003 23 531-51. 

A. Wald NJ, Hackshaw AK, George LM. Assay precision of serum alpha fetoprotein in antenatal screening for neural tube defects and Down s syndrome. J Med Screen 2000 7 74-7. Erratum in J Med Screen 2000 7 168. 

Lesch-Nyhan syndrome (p. 726) spina bifida (p. 727) neural-tube defect (p. 727)... 

The answer is a. (Murray, pp 812-828. Scriver, pp 3-45. Sack, pp 167—180. Wilson, pp 287-324.) When present as an isolated anomaly, spina bifida (meningomyelocele) exhibits multifactorial inheritance. Chromosomal inheritance usually causes a syndrome rather than isolated anomalies. Atypical inheritance (genomic imprinting, trinucleotide repeat instability, mitochondrial inheritance) has not been implicated in neural tube defects. 

Nephrotic syndrome Hepatic synthesis Liver disease Diabetes mellitus Estrogens/pregnancy Childhood Neural tube defects Ataxia telangiectasia Down s syndrome... 

Wei C Yinqiao Pian, 771 nervousness bofutsushosan, 774 Ephedra, 11A liraglutide, 693 nervous system depression chloroform, 195 prilocaine, 216 rupatadine, 274-5 neural tube defects caffeine, 6-7 neurodevelopment delay amiodarone, 294 neuroexdtation pethidine (meperidine), 151 neuroleptic malignant syndrome aripiprazole, 61 lithium, 27... 

The incidence of associated anomalies is much higher if the horseshoe kidney is discovered in the newborn period. In postmortem examinations of 99 infants with horseshoe kidneys, 78% had malformations of other organ systems such as the central nervous system, the gastrointestinal tract, and the skeletal and cardiovascular system (Zondek and Zondek 1964). One-third of patients with horseshoe kidney had at least one other abnormality (Boatman et al. 1972). Several well-known syndromes are associated with fused kidney. Trisomy 18 has an incidence of 21% (Warkany et al. 1966 Boatman et al. 1972). In US studies, Lippe et al. (1988) noted horseshoe kidneys in 7% of patients with Turner s syndrome. In patients with neural tube defects, there is also an increased incidence of horseshoe kidneys (Whitaker and Hunt 1987). Nearly one-third of patients with a horseshoe kidney remain undiagnosed throughout life (Glenn 1959 Pitts and Muecke 1975). 

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