Author Report for: Chitayat DNo contact information in database for Chitayat D
Wilson RD, Audibert F, Brock JA, Campagnolo C, Carroll J, Cartier L, Chitayat D, Gagnon A, Johnson JA and Popa V <5 more author(s)> Wilson RD, Audibert F, Brock JA, Campagnolo C, Carroll J, Cartier L, Chitayat D, Gagnon A, Johnson JA, Langlois S, MacDonald WK, Murphy-Kaulbeck L, Okun N, Pastuck M, Popa V (- 5) Ref: J Obstet Gynaecol Can, 36:927, 2014 : PubMed ESTHER: Wilson_2014_J.Obstet.Gynaecol.Can_36_927 PubMedSearch: Wilson 2014 J.Obstet.Gynaecol.Can 36 927 PubMedID: 25375307 Abstract OBJECTIVE: To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). OPTIONS: This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. OUTCOMES: To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. EVIDENCE: Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. VALUES: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). BENEFITS, HARMS, AND COSTS: This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management. Recommendations Screening Evaluation 1. The primary screening test for the detection of fetal structural abnormalities including open/closed neural tube defects (anencephaly, encephalocele, spina bifida) is a second trimester anatomical ultrasound with detailed fetal intracranial and spinal imaging and assessment. (II-2A) 2. The primary use of maternal serum alpha fetoprotein for open/closed neural tube defects screening should be discontinued with the limited clinical exceptions of pregnant women with a pre-pregnant body mass index >/= 35 kg/m2 or when geographical or clinical access factors limit timely and good quality ultrasound screening at 18 to 22 weeks' gestation. (II-2A) 3. When used as a component in maternal serum genetic aneuploidy screening, maternal serum alpha fetoprotein can be used as a secondary screening tool in the second trimester. (II-2A) 4. Positive screening results for open/closed neural tube defect (ultrasound +/- maternal serum alpha fetoprotein) require timely referral to appropriate experienced providers for genetic review, diagnosis, and counselling. (II-2A) Diagnostic Evaluation 5. If the second trimester screening fetal ultrasound indicates a probable diagnosis of neural tube defects, the women should be referred to a tertiary or regional centre with ultrasound expertise for a more detailed ultrasound examination looking for the features associated with a neural tube defect sequence. (II-2A) 6. Prenatal magnetic resonance imaging can be considered as an additional fetal imaging technique if further detailed fetal central nervous system assessment is required for diagnostic or management counselling. (II-2A) Invasive Prenatal Diagnostic Methods 7. The amniotic fluid specimen from a diagnostic amniocentesis (following the ultrasound detection of fetal anomalies including confirmed or suspected open/closed neural tube defect), should be evaluated for a fetal karyotype (and, if indicated and available, a chromosomal microarray), amniotic fluid alpha fetoprotein, and amniotic fluid acetylcholinesterase. These test results will allow comprehensive evaluation of the etiology, estimated risk of recurrence, and prediction of long-term neonatal and childhood outcomes of open/closed neural tube defect for family counselling. (II-2A) 8. When a routine diagnostic amniocentesis indicates only a risk of aneuploidy, and no identified fetal anomalies, it is not necessary to take an amniotic fluid specimen or to order amniotic fluid alpha-fetoprotein and acetylcholinesterase testing to screen for open neural tube defects. (II-2E) 9. The diagnostic identification of a pregnancy with an open/closed neural tube defect (isolated or in a more complex multiple-anomaly grouping) requires referral for comprehensive genetic, maternal-fetal medicine, and pediatric neurosurgical counselling for complete patient-focused care. (II-2A) Pregnancy Management 10. Following the detection of an isolated open/closed neural tube defect, families should be offered a choice of 3 obstetrical care management options after diagnostic and genetic testing results are available. OPTIONS should include information about prenatal myelomeningocele repair and prognosis (if there are no maternal or fetal contraindications for prenatal repair at 20-26 weeks' gestation), postnatal myelomeningocele surgical repair and prognosis, and pregnancy termination with autopsy. Because anencephaly is a lethal condition, pregnancy with anencephaly may be interrupted at any gestational age on the woman's request. For an encephalocele, individualized counselling is recommended because of the possibly unique circumstances of the anomaly. (II-2A) 11. Caesarean section is the most common method of delivery for a fetus with a myelomeningocele (MCC) in either vertex or breech presentation, but is it mandatory for breech presentation. Vaginal delivery with intrapartum fetal heart rate monitoring can be considered in selected MMC vertex presentation cases that have no macrocephaly related to gestational age and a small or no MMC sac. (II-2A) 12. Delivery management for a fetus with complex multiple anomalies including a neural tube defect will need to be individually determined by the multidisciplinary health care providers at the anticipated delivery centre based on the differential diagnosis, congenital anomalies identified, prenatal testing results, prenatal care requirements, anticipated neonatal morbidity or mortality, and family consultation and requests. (III-A) 13. Autopsy is recommended for all cases of prenatal and postnatal open/closed neural tube defect (isolated or complex) following either termination of pregnancy or prenatal/postnatal death. Induction of labour may be the preferred method for pregnancy termination, allowing for a more complete autopsy evaluation of the fetal central nervous system. If autopsy is declined, fetal magnetic resonance imaging should be considered to better evaluate fetal abnormalities either in utero or after postnatal death. If genetic studies have not been completed prior to the termination, at the minimum, chromosomal karyotyping and/or chromosomal microarray should be considered or encouraged, even if a full autopsy is not performed. This procedure will maximize information for postnatal review and counselling. (II-2A) Pregnancy Follow-up 14. Follow-up consultation is recommended when postnatal genetic and pathologic studies are complete, to provide the woman with information related to the etiology, risk of recurrence, recurrence prevention, and the possible impact on other family members of the congenital isolated or complex anomaly. (II-2A) 15. When a previous pregnancy history is complicated by a presumed folic acid-sensitive open/closed neural tube defect (i.e., no karyotype, chromosomal microarray, or identified single gene disorder etiology) for either member of the couple, or if either member of the couple planning the pregnancy is personally affected with an isolated neural tube disorder, oral folic acid supplementation of 5 mg within a multivitamin preparation should be recommended to the female partner, starting at least 3 months prior to pregnancy conception and through the first trimester of the pregnancy. (I-A). Title: Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H and Hayden MR <6 more author(s)> Ma Y, Liu MS, Chitayat D, Bruin T, Beisiegel U, Benlian P, Foubert L, De Gennes JL, Funke H, Forsythe I, Blaichman S, Papanikolaou M, Erkelens DW, Kastelein J, Brunzell JD, Hayden MR (- 6) Ref: Hum Mutat, 3:52, 1994 : PubMed ESTHER: Ma_1994_Hum.Mutat_3_52 PubMedSearch: Ma 1994 Hum.Mutat 3 52 PubMedID: 7906986 Abstract Mutations in the lipoprotein lipase (LPL) gene are the most common cause of familial chylomicronemia. Here we define the molecular basis of LPL deficiency in four patients of German, French, Dutch, and Chinese descent. We show that two of the probands of Dutch and Chinese origin have a previously described Arg243His mutation while the patients of German and French descent have a novel Arg243Cys substitution in their LPL gene. Haplotype analysis is in favour of two separate origins for the Arg243Cys substitution which together with the Arg243His mutation would implicate three recurrent mutations involving the first and second nucleotides of the codon encoding Arg243 of the LPL gene. The recurrent mutations affecting the first and second nucleotide of CGC coding for the normal Arg residue are support for the high mutability of CpG dinucleotides within the LPL gene. Title: Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20 Halal F, Chitayat D, Parikh H, Rosenblatt B, Tranchemontagne J, Vekemans M, Potier M Ref: American Journal of Medicine Genet, 43:576, 1992 : PubMed ESTHER: Halal_1992_Am.J.Med.Genet_43_576 PubMedSearch: Halal 1992 Am.J.Med.Genet 43 576 PubMedID: 1605251 Gene_locus related to this paper: human-CTSA Abstract We report on a 14-year-old boy with ring chromosome 20. Clinical manifestations included postnatal growth retardation, epilepsy, microcephaly, behaviour disorder, minor facial anomalies, small sella turcica, possible partial growth hormone deficiency, and mental retardation. A decreased activity of enzyme carboxypeptidase-L/protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,-14, + der(14)t(14;20)(14pter----14q32.3::20q13.1----20qter)m at. This suggests possible assignment of the CP/PP gene to the distal segment of 20q. Title: Juvenile galactosialidosis in a white male: a new variant Chitayat D, Applegarth DA, Lewis J, Dimmick JE, McCormick AQ, Hall JG Ref: American Journal of Medicine Genet, 31:887, 1988 : PubMed ESTHER: Chitayat_1988_Am.J.Med.Genet_31_887 PubMedSearch: Chitayat 1988 Am.J.Med.Genet 31 887 PubMedID: 3149149 Gene_locus related to this paper: human-CTSA Abstract We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant. | |||||||
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