(ntds) maternal serum screening jeff milunsky,...
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Maternal Serum Screening
NeuralTubeDefects(e.g.spinabifida):Recommendationsaretotestabloodsamplefromallwomeninallpregnanciesforfourbiochemicalmarkers(quad‐screen)at16weeksand/ortohaveanultrasoundstudy.Chromosomedefects(e.g.Downsyndrome):Recommendationsaretotestallwomeninallpregnancieswithtwobiochemicalmarkersandbyltrasoundat11‐13weeks.uManyindicationsexistforgeneticcounseling.Recommendationsareespeciallyforcouplesorindividu
Genetic Counseling and Evaluation
alsconcernedabout: Apersonalgeneticdisorder Achild’sorfamilymember’sgenetic
disorder Evaluationofdevelopmentaldelay,
intellectualdisability,autism,andbirthdefects
Earlyonsetofcancerorfamilyhistoryof
multiplecancersAfamilyhistoryofanhereditarydisorder
Acarriertestbecausethepersonhasaspecificethnicorigin(e.g.,Italians,Greeks,andothersofMediterraneandescent;Blacks,Jews,Asians)orconsanguinity
Apreviouschildwithabirthdefectorintellectualdisability
Risksofrecurrence,orforanytreatmentorcareofageneticdisorder
AmnioticFluidStudiesforNeuralTubeDefects(NTDs)
AmnioticFluidAlpha‐fetoprotein(AFP)assaysaredoneonallamnioticfluidsamples.
teraseandWheneverindicated,acetylcholinesfetalhearespe
moglobinassaysareadded.Theseassayscificallyrecommendedfor:
eviouschildwithanreerelative
Coupleswhohaveapr
NTDoranaffectedfirstdeg
OneparenthasaNTDA alserumAFP
C phrosisorotherleakinghighmaternongenitalnefetaldefects
RapidInterphaseFISHAnalysis
rIndicatedforurgentsecondandthirdtrimestealdefectispresentorriskisstudywhenafet
high.Diagnosticfocusisonchromosomes21,18,13,XandY.completeroutinechromosomeanalysisisstilleeded.An
CENTER FOR HUMAN GENETICS, INC.
Molecular Genetic (DNA) diagnoses
syndromes Genetic evaluation for intellectual
disability, autism, and birth defects Genetic counseling for genetic
disorders, pregnancy, and infertility Prenatal diagnosis of genetic
disorders Maternal serum screening for fetal
genetic disorders Molecular cytogenetics of cancer Paternity testing by DNA analysis
all 617- -
Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 617-492-7083
For information and the latest available tests, see our website at
www.CHGINC.org
For appointments: call 617-492-5106
For general inquiries: call 617-492-7083
Clinical diagnosis of genetic disorders and
CENTER FOR HUMAN GENETICS, INC.
Molecular Genetic (DNA) diagnoses
syndromes Genetic evaluation for intellectual
disability, autism, and birth defects Genetic counseling for genetic
disorders, pregnancy, and infertility Prenatal diagnosis of genetic
disorders Maternal serum screening for fetal
genetic disorders Molecular cytogenetics of cancer Paternity testing by DNA analysis
Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 617-492-7083
For information and the latest available tests, see our website at
www.CHGINC.org
For appointments: call 617-492-5106
For general inquiries: call 617-492-7083
Clinical diagnosis of genetic disorders and
JEFF MILUNSKY, M.D., F.A.C.M.G. Co-Director, Center for Human Genetics, Inc. Director, Clinical Genetics Senior Director, Molecular Genetics AUBREY MILUNSKY, M.D., D.Sc., F.R.C.P., F.A.C.M.G. Founder and Co-DirectorCenter for Human Genetics, Inc.
Center for Human Genetics, Inc. Riverside Technology Center 840 Memorial Drive, Suite 101 Cambridge, MA 02139 Tel: (617)-492-7083 Fax: (617)-492-7092 Email: [email protected] [email protected]
For appointments, call 617-492-5106
Free parking and Phlebotomy on site
A
DIAGNOSTIC SERVICES
Diagnosis,carrierdetection,pre‐symptomaticandprenataldiagnosisisprovidedforarapidly
rders.Wewillanalysiselsewhere
Molecular (DNA) Analyses
increasinglistofgeneticdisoxtractDNAandarrangeforordisordersnotonourlist.efMolecularDiagnosisGenesequencinganddeletion/duplicationanalysisaswellasdirectmutationdetectionisprovidedforover100geneticdisorders.Ourextensivemultisystemcoverageincludes
es,neurogenetics,connectivetissuesyndromcancers,ethnic‐relateddisorders,andmitochondrialandmetabolicdisorders.ExamplesincludeNeurofibromatosis,Marfansyndrome,Ehlers‐
nandDanlos,Kabukiandothersyndromes,colocers,carriertestsforAshkenazi,CysticFibrosis,andSickleCell
othercandisordersdisease.
This center is an international clinical and reference laboratory for the diagnosis of genetic disorders. Overall experience in the provision of genetic services now exceeds 30 years with a cumulative case-load among the largest in the United States. The specialized services described below include
services to physicians in all specialties.
evaluation of patients and employ the latest molecular
and cytogenetic techniques, providing diagnostic
PaternityTests
DNAstudiesprovidecertainty(>99.99%)forpaternitydetermination.DNABanking
BankingaDNAsamplefromafamilymemberwithaknownorasyetunresolvedgeneticdisordermaybeextremelyimportantforothersinthefamilyodetermineprecisediagnosisorforfuturefamilylanningorprenataldiagnosis.tp
Chromosome Analyses
BloodChromosomeAnalysis
Mostimportantindicationsinclude: alEvaluationofbirthdefects,intellectu
disability,autism,andsyndromesAcouplewithrecurrentmiscarriage
mosomeParentsofanoffspringwithachro
defectEvaluationforlearningdisordersvaluationofinfertility
familyhistoryofachromosomedefect E
A
Cancer Cytogenetic Analysis
Fordeterminationofcharacteristicchromosomeabnormalitiesinblood, bonemarrow, and tumors
Chromosome Analysis of the Products of Conception/Stillbirth
Studiesfocusedontissueobtainedfollowingspontaneousorelectiveabortion,fetaldeath,orstillbirth.Fluorescent in situ hybridization (FISH)
Thefoll ongmany:
owingareexamplesam Angelmansyndrome
Markerchromosomes Miller‐Diekersyndrome
Prader‐Willisyndrome Translocations(Cryp
Velocardiofacial/DiG William’ssyndrome
tic) eorgesyndrome[22q‐]
myelodysplasia,andothercancers.
forleukemias,lymphomas,
Prenatal Diagnosis
Chromosomestudy/SNPMicroarray
Themostimportantindicationsforstudyare:advancedmaternalage
e
Previousoffspringwithanychromosomdefect
IncreasedoddsforDownsyndrome(orernalotherchromosomedefect)aftermat
serumscreening saAparentalcarrieroronewhoha
chromosomedefectDiscoveryofafetalanomalyorintrauterinegrowthrestriction
Recommendedasthefirsttestfordiagnosisofintellec ariousbirthdefects.
tualdisability,autism,andv
Invaluablefordetectionofationchromosome/genedeletion/duplic
disorders. Importantforprenataldiagnosisif
ultrasoundrevealsafetalabnormality.
SNP Microarray Analysis A non-profit corporationCenter for Human Genetics, Inc.
We are priviledged to serve physicians in allstates in the USA and more than 44 countries.