Congenital malformations - Edocr

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CHAPTER 3 GENETIC COUNSELING: PRINCIPLES AND PRACTICES 35 Figure 3-10. Amniocentesis. (Printed with permission from the Greenwood Genetics Center.) Figure 3-11. Center.) Chorionic villous sampling. (Printed with permission from the Greenwood Genetics
36 PART I GENERAL CONSIDERATIONS maternal serum screen results. 13 A detailed fetal ultrasound can detect approximately 90–95% of ONTDs and anencephaly and should be offered in pregnancy following an elevated a-fetoprotein level on the serum screen. Ultrasound cannot be used to diagnose chromosome anomalies but can be helpful in adjusting risk for fetal aneuploidy by screening for features (choroids plexus cysts, echogenic bowl, cystic hygroma, and so on) known to be associated with an increased risk. For genetic conditions associated with multiple <strong>malformations</strong> in which direct DNA testing is not available, fetal ultrasound can be used as a method of screening for recurrence in a subsequent pregnancy for conditions such as the short-rib polydactyly syndromes, which are associated with autosomal recessive inheritance but for which the genetic defects are unknown. A detailed or high resolution fetal ultrasound can be performed by sonographers with expertise in screening for skeletal abnormalities that are visible by the mid-second trimester. <strong>Congenital</strong> heart defects are among the most common birth defects, with an incidence of 8 per 1000 live births. 14 Fetal echocardiograms with Doppler performed after 20 weeks gestation can detect the majority of structural cardiovascular defects and rhythm abnormalities. The early detection of fetal cardiovascular defects allows for better management during the pregnancy and during the perinatal period, prompt screening for potential chromosome abnormalities and other structural anomalies in the fetus, and better education and preparation of the parents. According to the American Academy of Pediatrics, Committee on Genetics, fetal echocardiography should be considered when (1) a cardiac defect is suspected on a routine ultrasound exam; (2) an extracardiac structural defect has been identified by ultrasound; (3) positive family history of a cardiovascular or rhythm defect; (4) chromosome abnormality or genetic disorder associated with cardiac defects is suspected in the fetus; (5) maternal disease associated with increased risk for cardiac defects in the fetus, such as maternal diabetes or phenylketonuria (PKU); (6) known prenatal exposure to a teratogenic agent; (7) fetal arrhythmia has been detected on examination. 13 With advances in ultrafast MRI technology overcoming distortion of images by fetal motion artifact, MRI has become a more prevalent tool for the detailed characterization of structural abnormalities in pregnancy. Fetal MRI has been most helpful in delineating central nervous system abnormalities 15 allowing for a more accurate diagnosis and prognosis of the infant. Fetal MRI can also be used in the second trimester to better characterize abnormalities in fetal vasculature, thorax, abdomen, and pelvis. 15 MRI can be helpful in visualizing fetal anatomy when oligohydramnios is present, making ultrasound difficult. Fetal MRI is not recommended in the first trimester 13 and should be offered to couples when a structural defect is suspected on ultrasound that could be better characterized by MRI. Lastly, preimplantation genetic diagnosis (PGD) has become an important alternative to traditional methods of prenatal diagnosis of genetic disorders. PGD is defined as a method of analyzing the chromosomal or genetic makeup of an embryo obtained by in vitro fertilization (IVF) techniques. 16 Once a diagnosis is established, embryos can be transferred to the woman’s uterus for a successful pregnancy. PGD was first used to determine the sex of embryos for couples at risk of having a child with an X-linked condition. Since then, PGD has been used for the diagnosis of chromosome aneuploidy and translocations, over 100 single gene disorders, and for HLA typing for a potential stem cell donor match relative. 16 Currently there are three methods of genetic testing of an embryo, early embryo biopsy, polar body extraction, and blastocyst-stage biopsy. 16 Early embryo biopsy involves removing one or two blastomeres from the embryo on the third day after IVF. The cells can then be used for single cell FISH for certain chromosome anomalies or polymerase chain reaction (PCR)-based DNA analysis for single gene disorders. The blastocyst-stage biopsy involves the laser-guided removal of several cells from the
Page 2 and 3: CONGENITAL MALFORMATIONS
Page 4 and 5: CONGENITAL MALFORMATIONS Evidence-B
Page 6 and 7: We dedicate this book to all infant
Page 8 and 9: For more information about this tit
Page 10 and 11: CONTENTS ix 23. Congenital Cystic A
Page 12 and 13: CONTENTS xi Part IX Miscellaneous M
Page 14 and 15: Contributors Brad Angle, MD Associa
Page 16 and 17: Preface Based on a World Health Org
Page 18 and 19: Part I General Considerations Copyr
Page 20 and 21: Chapter 1 Dysmorphology PRAVEEN KUM
Page 22 and 23: CHAPTER 1 DYSMORPHOLOGY 5 Almost 15
Page 24 and 25: CHAPTER 1 DYSMORPHOLOGY 7 TABLE 1-
Page 26 and 27: CHAPTER 1 DYSMORPHOLOGY 9 malformat
Page 28 and 29: CHAPTER 1 DYSMORPHOLOGY 11 examples
Page 30 and 31: Chapter 2 Assessment of an Infant w
Page 32 and 33: CHAPTER 2 ASSESSMENT OF AN INFANT W
Page 38 and 39: Chapter 3 Genetic Counseling: Princ
Page 40 and 41: CHAPTER 3 GENETIC COUNSELING: PRINC
Page 56 and 57: Part II Central Nervous System Malf
Page 58 and 59: Chapter 4 Spina Bifida BARBARA K. B
Page 60 and 61: CHAPTER 4 SPINA BIFIDA 43 (Fig. 4-1
Page 62 and 63: CHAPTER 4 SPINA BIFIDA 45 TABLE 4-
Page 64 and 65: CHAPTER 4 SPINA BIFIDA 47 function,
Page 66 and 67: CHAPTER 4 SPINA BIFIDA 49 of the pr
Page 68 and 69: Chapter 5 Anencephaly BARBARA K. BU
Page 70 and 71: Chapter 6 Encephalocele BARBARA K.
Page 72 and 73: CHAPTER 6 ENCEPHALOCELE 55 TABLE 6
Page 74 and 75: Chapter 7 Holoprosencephaly BARBARA
Page 76 and 77: CHAPTER 7 HOLOPROSENCEPHALY 59 EVA
Page 78 and 79: Chapter 8 Hydrocephalus BARBARA K.
Page 80 and 81: CHAPTER 8 HYDROCEPHALUS 63 TABLE 8
Page 82 and 83: CHAPTER 8 HYDROCEPHALUS 65 TABLE 8
Page 84 and 85: Chapter 9 Dandy-Walker Malformation
Page 86 and 87: CHAPTER 9 DANDY-WALKER MALFORMATION
Page 88 and 89: Chapter 10 Chiari Malformations BAR
Page 90 and 91: CHAPTER 10 CHIARI MALFORMATIONS 73
Page 92 and 93: CHAPTER 10 CHIARI MALFORMATIONS 75
Page 94 and 95: Chapter 11 Agenesis of the Corpus C
Page 96 and 97: CHAPTER 11 AGENESIS OF THE CORPUS C
Page 98 and 99: CHAPTER 11 AGENESIS OF THE CORPUS C
Page 100 and 101: Chapter 12 Craniosynostosis BARBARA
Page 102 and 103:
CHAPTER 12 CRANIOSYNOSTOSIS 85 As a
Page 104 and 105:
CHAPTER 12 CRANIOSYNOSTOSIS 87 cran
Page 106 and 107:
CHAPTER 12 CRANIOSYNOSTOSIS 89 REFE
Page 108 and 109:
Part III Craniofacial Malformations
Page 110 and 111:
Chapter 13 Cleft Lip and Palate BRA
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CHAPTER 13 CLEFT LIP AND PALATE 95
Page 114 and 115:
Page 116 and 117:
Page 118 and 119:
Chapter 14 Micrognathia BRAD ANGLE
Page 120 and 121:
CHAPTER 14 MICROGNATHIA 103 Microgn
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Chapter 15 Congenital Anomalies Ass
Page 124 and 125:
CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 126 and 127:
CHAPTER 15 CONGENITAL ANOMALIES ASS
Page 128 and 129:
Chapter 16 Ear Anomalies BRAD ANGLE
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CHAPTER 16 EAR ANOMALIES 113 Figure
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CHAPTER 16 EAR ANOMALIES 115 Figure
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Chapter 17 Choanal Atresia BRAD ANG
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CHAPTER 17 CHOANAL ATRESIA 119 been
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Chapter 18 Coloboma BRAD ANGLE INT
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CHAPTER 18 COLOBOMA 123 typically a
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Chapter 19 Cataract BRAD ANGLE INT
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CHAPTER 19 CATARACT 127 Isolated Ca
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CHAPTER 19 CATARACT 129 associated
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CHAPTER 19 CATARACT 131 2. Zetterst
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Part IV Respiratory Malformations C
Page 152 and 153:
Chapter 20 Congenital High Airway O
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CHAPTER 20 CONGENITAL HIGH AIRWAY O
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Chapter 21 Pulmonary Agenesis SANDR
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CHAPTER 21 PULMONARY AGENESIS 141 k
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Chapter 22 Pulmonary Hypoplasia SAN
Page 162 and 163:
CHAPTER 22 PULMONARY HYPOPLASIA 145
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Chapter 23 Congenital Cystic Adenom
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CHAPTER 23 CONGENITAL CYSTIC ADENOM
Page 168 and 169:
Chapter 24 Congenital Diaphragmatic
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CHAPTER 24 CONGENITAL DIAPHRAGMATIC
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Page 174 and 175:
Page 176 and 177:
Chapter 25 Congenital Hydrothorax S
Page 178 and 179:
CHAPTER 25 CONGENITAL HYDROTHORAX 1
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CHAPTER 25 CONGENITAL HYDROTHORAX 1
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Chapter 26 Congenital Pulmonary Lym
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CHAPTER 26 CONGENITAL PULMONARY LYM
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CHAPTER 26 CONGENITAL PULMONARY LYM
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Part V Cardiac Malformations Copyri
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Chapter 27 Septal Defects BARBARA K
Page 192 and 193:
CHAPTER 27 SEPTAL DEFECTS 175 TABL
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CHAPTER 27 SEPTAL DEFECTS 177 TABL
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CHAPTER 27 SEPTAL DEFECTS 179 to ri
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CHAPTER 27 SEPTAL DEFECTS 181 of th
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Chapter 28 Conotruncal Heart Defect
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CHAPTER 28 CONOTRUNCAL HEART DEFECT
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Page 206 and 207:
Page 208 and 209:
Page 210 and 211:
Chapter 29 Right Ventricular Outflo
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CHAPTER 29 RIGHT VENTRICULAR OUTFLO
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CHAPTER 29 RIGHT VENTRICULAR OUTFLO
Page 216 and 217:
Chapter 30 Left Ventricular Outflow
Page 218 and 219:
CHAPTER 30 LEFT VENTRICULAR OUTFLOW
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CHAPTER 30 LEFT VENTRICULAR OUTFLOW
Page 222 and 223:
Chapter 31 Dextrocardia BARBARA K.
Page 224 and 225:
CHAPTER 31 DEXTROCARDIA 207 with fu
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Chapter 32 Cardiomyopathy BARBARA K
Page 228 and 229:
CHAPTER 32 CARDIOMYOPATHY 211 TABL
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CHAPTER 32 CARDIOMYOPATHY 213 of di
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Part 6 Gastrointestinal Malformatio
Page 234 and 235:
Chapter 33 Esophageal Atresia and T
Page 236 and 237:
CHAPTER 33 ESOPHAGEAL ATRESIA AND T
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CHAPTER 33 ESOPHAGEAL ATRESIA AND T
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Chapter 34 Duodenal Atresia PRAVEEN
Page 242 and 243:
CHAPTER 34 DUODENAL ATRESIA 225 TA
Page 244 and 245:
Chapter 35 Anorectal Malformations
Page 246 and 247:
CHAPTER 35 ANORECTAL MALFORMATIONS
Page 248 and 249:
CHAPTER 35 ANORECTAL MALFORMATIONS
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Chapter 36 Hirschsprung Disease PRA
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CHAPTER 36 HIRSCHSPRUNG DISEASE 235
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Page 256 and 257:
Page 258 and 259:
Chapter 37 Omphalocele PRAVEEN KUMA
Page 260 and 261:
CHAPTER 37 OMPHALOCELE 243 TABLE 3
Page 262 and 263:
CHAPTER 37 OMPHALOCELE 245 status,
Page 264 and 265:
Chapter 38 Gastroschisis PRAVEEN KU
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CHAPTER 38 GASTROSCHISIS 249 TABLE
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Part VII Renal Malformations Copyri
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Chapter 39 Renal Agenesis PRAVEEN K
Page 272 and 273:
CHAPTER 39 RENAL AGENESIS 255 propo
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CHAPTER 39 RENAL AGENESIS 257 TABL
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CHAPTER 39 RENAL AGENESIS 259 varia
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Chapter 40 Horseshoe Kidney PRAVEEN
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CHAPTER 40 HORSESHOE KIDNEY 263 TA
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Chapter 41 Renal Cystic Diseases PR
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TABLE 41-2 Summary of Clinical Pres
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TABLE 41-2 Summary of Clinical Pres
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CHAPTER 41 RENAL CYSTIC DISEASES 27
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Page 292 and 293:
Page 294 and 295:
Chapter 42 Posterior Urethral Valve
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CHAPTER 42 POSTERIOR URETHRAL VALVE
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CHAPTER 42 POSTERIOR URETHRAL VALVE
Page 300 and 301:
Part VIII Skeletal Malformations Co
Page 302 and 303:
Chapter 43 Polydactyly PRAVEEN KUMA
Page 304 and 305:
CHAPTER 43 POLYDACTYLY 287 Temtamy
Page 306 and 307:
CHAPTER 43 POLYDACTYLY 289 TABLE 4
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CHAPTER 43 POLYDACTYLY 291 5. Holme
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Chapter 44 Syndactyly PRAVEEN KUMAR
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CHAPTER 44 SYNDACTYLY 295 ASSOCIAT
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CHAPTER 44 SYNDACTYLY 297 REFERENCE
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Chapter 45 Limb Reduction Defects P
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CHAPTER 45 LIMB REDUCTION DEFECTS 3
Page 320 and 321:
TABLE 45-2 Syndromes Associated wit
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CHAPTER 45 LIMB REDUCTION DEFECTS 3
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Chapter 46 Skeletal Dysplasias PRAV
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CHAPTER 46 SKELETAL DYSPLASIAS 309
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311 Achondrogenesis Autosomal Sever
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313 Chondrodysplasia X-linked Short
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Page 334 and 335:
Page 336 and 337:
Pathological Fractures or Abnormal
Page 338 and 339:
Chapter 47 Arthrogryposis PRAVEEN K
Page 340 and 341:
CHAPTER 47 ARTHROGRYPOSIS 323 in ot
Page 342 and 343:
CHAPTER 47 ARTHROGRYPOSIS 325 obscu
Page 344 and 345:
327 Type 5 Proximal & distal Club f
Page 346 and 347:
CHAPTER 47 ARTHROGRYPOSIS 329 unkno
Page 348 and 349:
Part IX Miscellaneous Malformations
Page 350 and 351:
Chapter 48 Single Umbilical Artery
Page 352 and 353:
CHAPTER 48 SINGLE UMBILICAL ARTERY
Page 354 and 355:
CHAPTER 48 SINGLE UMBILICAL ARTERY
Page 356 and 357:
Chapter 49 Sacral Dimple and Other
Page 358 and 359:
CHAPTER 49 SACRAL DIMPLE AND OTHER
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Page 362 and 363:
Page 364 and 365:
Chapter 50 Hemihyperplasia and Over
Page 366 and 367:
CHAPTER 50 HEMIHYPERPLASIA AND OVER
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Page 370 and 371:
Page 372 and 373:
Chapter 51 Cystic Hygroma PRAVEEN K
Page 374 and 375:
CHAPTER 51 CYSTIC HYGROMA 357 in la
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Trisomy 18 IUGR, low-set malformed
Page 378 and 379:
CHAPTER 51 CYSTIC HYGROMA 361 and o
Page 380 and 381:
Glossary of Genetic Terms A Acquire
Page 382 and 383:
GLOSSARY OF GENETIC TERMS 365 Codon
Page 384 and 385:
GLOSSARY OF GENETIC TERMS 367 Gene
Page 386 and 387:
GLOSSARY OF GENETIC TERMS 369 Locus
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GLOSSARY OF GENETIC TERMS 371 Prena
Page 390 and 391:
GLOSSARY OF GENETIC TERMS 373 X X c
Page 392 and 393:
Web Resources General Birth Defect
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WEB RESOURCES 377 Children’s Brit
Page 396 and 397:
Index Page numbers followed by f or
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INDEX 381 polydactyly and, 288t ren
Page 400 and 401:
INDEX 383 genetic counseling, 225 m
Page 402 and 403:
INDEX 385 Haddad syndrome, 238t Hai
Page 404 and 405:
INDEX 387 Neurofibromatosis type I,
Page 406 and 407:
INDEX 389 clinical presentation, 30
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