ehlers-danlos and pregnancy

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Ehlers-Danlos And Pregnancy. Ron Jaekle, MD Professor of Clinical Ob/Gyn Division of Maternal-Fetal Medicine Department of Ob/Gyn University Of Cincinnati College of Medicine Fetal Care Center of Cincinnati Cincinnati Children ’ s Hospital Medical Center. EDS and pregnancy. Goals - PowerPoint PPT Presentation

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Ehlers-Danlos And PregnancyRon Jaekle, MDProfessor of Clinical Ob/GynDivision of Maternal-Fetal MedicineDepartment of Ob/Gyn

University Of Cincinnati College of MedicineFetal Care Center of CincinnatiCincinnati Childrens Hospital Medical Center

August 2012All rights reserved.EDNF 2012 ConferenceEDS and pregnancyGoalsOverview of SubtypesPhysiology of Pregnancy and relationship to EDSPregnancy ComplicationsDelivery and Recovery issuesEDS6 major phenotypes with significant overlapClinical featuresSkin hyperextensibilityJoint hypermobilityTissue FragilityPoor wound healingBruisingFew can be confirmed with laboratory testingSubtypesEDS Type I & II: ClassicAutosomal DominantType V CollagenMVP and organ prolapsePPROM, prematurityPostop herniaGene: COL5A1 orA2Locus: 9q34.2-34.3 or 2q31Type II is typically milderGenetics of Classic Type EDS 40-50% have detectable COL5A1 or 210% have detectable pro1(V) or pro2(V)30% with pro1(V) haploinsufficiencyA complex work-up and commonly declinedPotentially increased risk of Amniocentesis complicationsSubtypesEDS III: HypermobilityClinical diagnosisStriking Joint findings but less skin changesRecurrent joint dislocations and limb painGenetics: unknown

SubtypesEDS IV: VascularAutosomal DominantType III collagenVascular markings seen through skinRisk of rupture: vascular, bowel and/or tendonReduced lifespanGene: COL3A1Locus: 2q31

SubtypesEDS VI: KyphoscoliosisAutosomal RecessiveLysyl hydroxylase deficiencyRetinal detachmentScoliosisMafans-like with risk of vascular ruptureGene: PLOD1Locus: 1p36.3-36.2SubtypesEDS VII: AthrochalasiaAD or ARType I CollagenHyperflaccid joints with normal skinShort statureCongenital skull fractures and hip dislocationCOL1A1,2 or ADAMST217q31-22.5, 7q22.1, 5q23-24EDS and GeneticsOverlap makes specific diagnosis challengingGenetics consult and maternal testing best done prior to pregnancy since workup may take too much time to offer prenatal diagnosisType VI has been diagnosed by Lysyl Hydroxylase in amniotic fluid

Physiology of PregnancyCardiovascularIncreased blood volume40% increase (from 5-7 L)Peaks around 30 weeksIncreased cardiac output50% increasePulse up 20%, stroke volume increased by 60%Peaks around 32 wksIncreased venous capacitanceIncreased extracellular fluid volume (4-6 L)By term 15% of CO is directed to the uterusRenal perfusion increases by 40%Posture and PerfusionSupine hypotension syndrome

Physiology of Pregnancy: CardiovascularPhysiology of PregnancyHormonal ChangesProgesteroneRelaxes vascular, GI and GU smooth musclesReduces uterine motilityBlunts maternal vascular responsivenessRelaxinCervical integrityGI AdaptationGERD and altered gastric emptyingMusculoskeletalSI and pubic symphysis mobilityIncreased lumbar lordosisSkinStretch marks and spider angiomataVaricositiesPhysiology of PregnancyPregnancy and EDSInitial EvaluationMaternal EchocardiogramMVPAortic root diameterRoot diameter > 4 cm Screening Carotid and Abdominal Aorta Doppler analysisGenetics assessmentMaternal testing needed to confirm testing is availablePregnancy and EDSMultidisciplinary ApproachMFMGeneticsVascular SurgeryCardiologyOthers (Rheum, Gen Surg, Neurosurg, Ophtho)Cervix and EDSCervical insufficiency commonly reportedNo cervical insufficiency noted in Dutch cohortCase reports of prophylactic cerclage associated with high rate of PPROM and preterm birthNo recommendation for cerclageConsider surveillance and vaginal progesteronePPROM/Preterm Birth and EDSCase series suggest a rate of 25-75%Fetal contribution to PPROMPPROM rate 21/43 affected fetusPPROM rate 25/128 affected momDelivery before 37 wks17/43 if affected fetus28/128 affected motherLind, et al Acta Obstet Gynecol Scand 2002:81;293Fetal Growth and EDSFetal growth restriction has been described in several case reportsDutch case cohortNo increased frequencyOnly seen in affected mothersLind, et al Acta Obstet Gynecol Scand 2002:81;293Pregnancy and EDSBeta-blockers to control HR and pulse pressureAvoid valsalva or strenuous activityVitamin C supplementation to maximize strength and quality of collagen crosslinkingEarly admission to hospital Delivery and EDSVaginal DeliveryIncreased risk for extensive perineal traumaIncreased risk for poor episiotomy healingMediolateral episiotomyCesarean DeliveryIncisional herniaPoor skin healingMeticulous hemostasis and retention suturesSuture vs glue?Delivery and EDSMalpresentationBreech 8% (3% rate at term normally)Face and Brow Presentation seen in 5/46 affected fetusesRisk of both protracted and precipitous laborsLind, et al Acta Obstet Gynecol Scand 2002:81;293EDS and AnesthesiaNeuraxial AnesthesiaRisk of epidural hematomaIncreased HR and pulse pressureGeneral AnesthesiaGingival bleedingOropharyngeal tissue fragilityPneumothoraxPressure point injuryHemorrhage and EDSCapillary and vessel fragilityImpaired platelet aggregationVascular repair difficultPotential for A-V fistula formationHemorrhage and EDSObstetric hemorrhage requiring treatment: 20%Risk if both mother and neonate affected: 33%Uterine atony and lacerations contribute to the high rateDDAVPNeonate and EDS50% of infants to affected mothersFloppy baby syndrome: 13%Congenital anomalies not increasedAffected infants frequently not diagnosed at deliveryCongenital hip dislocationClassical Type EDS and PregnancyGenerally do well during pregnancyMultiple reports of episiotomy complicationsIntrapartum/Postpartum hemorrhageOperative vaginal delivery may pose an additional risk for perineal traumaHypermobility Type and PregnancyNo contraindication to pregnancySignificant pelvic instability and pain frequently reportedCase series suggest overall good obstetric outcomesVascular Type EDS and Pregnancy167/183 delivered at term12/81 maternal mortalities5 uterine ruptures2 intrapartum vessel ruptures5 postpartum2 of mortalities occurred in the 6th pregnancyPepin, et al. NEJM 2000;342:673Maternal Mortality: 20% for each pregnancy38.5% for each pregnant womanSpontaneous labor onset: 32-35 weeksSpontaneous arterial ruptureSubclavian, iliacGI RuptureVascular Type EDS and PregnancyKyphoscoliotic EDS and PregnancyAmniotic fluid testing available:Lysyl hydroxylase activityDeoxypyridinoline/pyroxydinoline ratio elevatedRetinal detachmentIncreased risk for vascular complicationsConclusionsVessels at risk due to hormonally induced relaxationIncreased cardiac output increases risk of vessel rupturePain and joint instability a common maternal complaintConclusionsKyphoscoliotic and Vascular Types associated with significant risk of maternal mortalitySpontaneous arterial rupture has been described in pregnancy with minimal traumaEcho, Vascular Doppler and MRITertiary care a necessityConclusionsPPROM and prematurity common and affected fetuses increase the riskPrenatal diagnosis complex but improvingConsider Vitamin C and B-Blocker therapyMaternal mortality remains a concern through the postpartum period

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