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Congenital Malformation - Scope of the Problem

Congenital Malformation - Scope of the Problem. Charles J. Macri MD Head, Division of Reproductive and Medical Genetics National Naval Medical Center. Congenital Malformation - Scope of the Problem. About 20-25% of perinatal deaths are due to lethal malformations

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Congenital Malformation - Scope of the Problem

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  1. Congenital Malformation - Scope of the Problem Charles J. Macri MD Head, Division of Reproductive and Medical Genetics National Naval Medical Center

  2. Congenital Malformation - Scope of the Problem • About 20-25% of perinatal deaths are due to lethal malformations • birthweight 500-1500 grams - 10% • birthweight > 1500g - 50%

  3. Causes of Malformations • Multifactorial - 20% • Single-gene - 7.5% • Chromosomal - 6% • Infection - 2-3% • Maternal diabetes - 1.5% • Maternal medication - 1-2% • Unknown - >50%

  4. Incidence of Malformation according to birth outcome • Livebirths - 2.5% (74% of total) • Stillbirths - 7% (2.5% of total) • TABs - 9% (16.5% of total) • SABs -12% (7.4% of total) • Overall -3% N=8040 Brigham and Womens Hosp, 12 months

  5. Definitions • Malformation • Malformation sequence • Deformation • Disruption • Deformation sequence

  6. Definitions • Major malformation • Minor malformation • Syndrome • Association • Non-specificity of malformations

  7. Malformation • Morphologic defect of an organ or region due to an intrinsically abnormal developmental process (e.g. hypoplasia, incomplete closure, incomplete separation)

  8. Malformation Sequence • Multiple defects derived from a single known or presumed structural defect • Examples: • meningomyeocele • club foot, hip dislocation, hydrocephalus • mandibular hypoplasia • cleft palate (Robin sequence)

  9. Deformation • Abnormal form or position of a body region caused by non-disruptive mechanical forces • Examples: • clubfoot, congenital hip dislocation

  10. Deformation Sequence • Examples: • Intrauterine constraint • Robin sequence secondary to mandibular constraint

  11. Disruption • Morphologic defect of an organ or region resulting from a breakdown of, or interference with an originally normal developmental process • example: Amniotic Band Disruption

  12. Major Malformation • Malformation of medical, surgical or cosmetic significance

  13. Minor Malformation • Minor morphologic features of little or no known medical significance • found in less than 4% of population

  14. Minor Variation • “Normal” morphologic features representing variations of morphology, of no medical significance • found in more than 4% of population

  15. Association • Non-random occurrence of several morphologic defects not identified as a sequence or syndrome

  16. Syndrome • From the Greek - “Running together” • Multiple anomalies thought to be pathogenetically related, not representing a sequence

  17. Non-Specificity of Malformations • The same morphologic abnormality or pattern of anomalies may occur as • an isolated anomaly • a feature in a sequence, syndrome, or association • a feature in a chromosomal disorder, single-gene disorder or multifactorial disorder • A feature in a teratogenic disorder

  18. Goals of a rational clinical approach to a fetal & congenital malformation • Accurate diagnosis • Accurate prognosis • Appropriate management of pregnancy • Recognition of associated malformations and medical problems • Prevention of complications • Appropriate counseling for parents • Prevention of recurrence by preventive measures and prenatal diagnosis

  19. Management of newborn with malformation • Avoid delivery room diagnosis • Prompt, expert clinical evaluation • Search for associated malformations • Chromosomal studies • Photographs • Appropriate diagnostic studies

  20. Management of newborn with malformation • Explain concerns openly • Emphasize the normal • Humanize the abnormal • Use precise diagnostic terms only when certain • Don’t offer extensive differential diagnosis • Careful prognostication

  21. Suggestions for pregnancy management • Assess every pregnancy for risk of malformation • Previous child or family history of malformation or chromosomal disorder • History of recurrent pregnancy loss • Intrauterine growth restriction • Olighydramnios or polyhydramnios

  22. Suggestions for pregnancy management • Appropriate diagnostic studies and clinical genetics consultation • Evaluate for associated malformation • Think chromosomes!! • Careful presentation of diagnostic and prognostic issues to the parents • Consider referral to pediatric sub-specialist for provision of detailed diagnostic and prognostic information • Utilize routine ultrasound study to screen for fetal malformation

  23. Suggestions for management of fatal malformation in the fetus or newborn • Careful and expert clinical examination • Photographs • Chromosomes (blood, viscera, skin) • X-rays • Pathologic examination • Allow parents to see the child (naming, photographing, memorializing) • refer for genetic counseling soon

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