安吉拉·E·林博士研究

24个月前重返列表：医院

除了在mghfc执业临床遗传学，我进行的临床研究在出生缺陷监测领域。；自1997以来，我一直在临床遗传学家顾问卫生部马萨诸塞州出生缺陷监测项目（问题）。我专注于先天性心脏缺陷，特别是大型流行病学研究分类的挑战与儿科心脏病学和医学遗传学的双重训练。；我已经在危险因素经常合作分析。最近，我参加了脉搏血氧饱和度筛选分析危重先天性心脏缺陷。我感谢刘易斯博士福尔摩斯向我介绍了这个独特的临床遗传学领域通过他的活动畸形监控程序在布里格姆妇女医院也是我工作的地方。

参考文献：

1。；；；；林AE，Forrester m，Cunniff C，希金斯CA，anderka^并；M.并； Clinician Reviewers in Birth Defects Surveillance Programs: Survey of the National Birth Defects Prevention并；Network. Birth Defects Research，2006；76:781-786。

2.并；并；并；并；并； Botto LD， Lin AE， Colarusso TR， Malik SG， Correa A.并； Seeking Causes: Classifying and并； Evaluating Congenital Heart Defects in Etiologic Studies.并； Birth Defects Research， Part A， 2007:79:714-727.

3.并；并；并；并；并； Browne ML，Bell EM Druschel CM， Gensburg LJ， Mitchell AA， Lin AE. Romitti PA， Correa AC， and the National Birth Defects Prevention Study.并； Maternal caffeine consumption and并；the risk of cardiovascular malformations. Birth Defects Research， 2007:79:533-543.

4.并；并；并；并；并； Louik C， Lin AE， Werler MM， Hernandez-Diaz S， Mitchell AA.并； First trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects. New Engl J Med 2007:356:2675-2683.

5.并；并；并；并；并； Anderka M， Lin AE， Abuelo DN， Mitchell AM， Rasmussen RA. Reviewing the Evidence that Mycophenolate Mofetil is a Teratogen. Am J Med Genet A. 2009 Jun;149A:1241-8.

6. 并；并；并；并； Hartman RJ， Riehle-Colarusso T， Lin A， Frías JL， Patel SS， Duwe K， Correa A， Rasmussen SA， and the National Birth Defects Prevention Study. 2011.并； Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study， 1997-2005.并； Am J Med Genet A. 2011.

7.并；并；并；并；并； Derrington TM， Kotelchuck M， Plummer K， Cabral H， Lin AE， Belanoff C， Shin M， Correa A， Grosse SD. 2013.并； Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome. Res Dev Disabil 25;34:3276-3287.

8.并；并；并；并；并； Liberman R， Getz KD， Lin AE， Higgins CA， Sekhavat S， Markenson GR， Anderka M.并；并； 2014. Delayed diagnosis of critical congenital heart defects: trends and associated factors. Pediatrics 2014;2013-3949.

偏侧缺陷的描述性流行病学。

Laterality defects， which are also known as defects of left-right axis determination， situs abnormalities， cardiac malpositions and heterotaxy， are well-described in the pathology， cardiology and genetic literature， but information is lacking about their prevalence and epidemiology. We analyzed them in the National Birth Defects Prevention Study (NBDPS)， funded through the Centers for Disease Control. This unique 15 year (1997-2013) population-based， case-control study of the genetic and environmental risk factors which contribute to birth defects included Massachusetts among the 10 research sites. We ascertained approximately 30 major birth defects， including congenital heart defects. In addition to livebirths， 7 states also included fetal deaths， and 5 included terminations of pregnancy. Data was abstracted from medical records as part of existing state newborn surveillance programs.

Congenital heart defects required rigorous diagnosis， case cleaning and classification. Laterality defects were even more difficult to classify because they involved the heart， thorax and gastrointestinal system. We excluded the mildest forms (dextrocardia and isolated situs inversus)， and cases with known syndromes. We created novel diagnostic inclusion criteria to ensure that milder forms could be captured. Cases were coded using ICD-9 codes which had been customized for the NBDPS.

Compared to previous studies， our well-defined cases (517 total， 378 heterotaxy， 139 situs inversus totalis)， represented the largest series from the largest (4，664，529) number of total births over a 10 year period. The prevalence (1.1 per 10，000) did not differ significantly across sites， over time or by inclusion of pregnancy termination， but there was variation. Laterality defects were more common among preterm infants， and mothers who were non-white or younger than 20 years. Heterotaxy was more likely than situs inversus totalis to be associated with oral clefts， esophageal atresia and bowel atresias.

The race/ethnic differences we observed are not easily explained by differences in biology or nutrition， or access to prenatal care， and is worth additional study. We have planned a companion analysis of related risk factors for heterotaxy， one of which is well known (diabetes).

Angela E. Lin， MD: Figure 1 — Figure legend (Adapted from Fakhro KA， Choi M， Ware SM， Belmont JW， Towbin JA， Lifton RP， Khokha MK， Brueckner M. 2011.并； Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.Proc Natl Acad Sci U S A. 108:2915-20.

This series of diagrams shows the spectrum of cardiothoracic malposition in humans with heterotaxy. Normal (Situs Solitus， SS) shows the cardiac apex pointed to the left， the tri-lobed right lung， the bilobed left lung， right-sided liver and gallbladder， and the left-sided stomach and single spleen. In contrast， complete Situs Inversus (SI) shows the cardiac apex pointed to the right， the right lung is bi-lobed， the left lung is tri-lobed， the liver and gallbladder are on the left side， and the stomach and single spleen are on the right side. Heterotaxy is defined by the absence of laterality in which the liver is transverse or midline， the inferior vena cava and descending aorta can be ipsilateral (same side)， and the bronchi are either tri-lobed or bi-lobed. Although the presence of absent spleen or many small spleens (polysplenia) are common with right and left-sided isomerism， respectively， they are not obligatory. Complex congenital heart defects are common， but mild forms may occur.

参考文献：

3.并；并；并；并；并； Lin AE， Ticho BS， Houde K， Westgate MN， Holmes LB.并； Heterotaxy: Associated conditions and prevalence in a newborn population.并； Genetics in Medicine 2000;2:157-172.

4.并；并；并；并；并； Lin AE， Krikov S， Riehle-Colarusso T， Belmont J， Geva T， Anderka M， Getz K， Botto LD. 2014. Laterality Defects in the National Birth Defects Prevention Study: Am J Med Genet 并；Part A. 164A:2581–2591.

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