Principles and Practice of Fetal Medicine Jaideep Malhotra, Raju R Sahetya, Hema Purandarey
INDEX
Page numbers followed by t refer to table, f refer to figure and fc refer to flow chart
A
Abdomen 129, 138f
Abdominal circumference 138f, 145, 371, 374f
Abdominal wall defects 286, 289
Acardiac twin, ligation of 235
Acidosis 146, 189
Acrania 27
Adrenal hyperplasia, congenital 98, 229
Airway obstruction syndrome 270, 274
Alpha fetoprotein 3, 79, 94, 285
American College of Obstetricians and Gynecologists 186
American Urological Association 64
Amino acid 106
infusions 151
Amniocentesis 28, 165, 165t, 166, 183, 185, 186, 289
Amnioreduction 255, 256f
Amniotic bands 198
Amniotic cavity, microbial invasion of 186
Amniotic fluid 165, 208, 233, 287
aspiration 184f, 185
culture 52, 186
index 148, 151f, 292
karyotype 53f
leakage 185
Anemia 249
Anesthesia 196, 270, 274
Antenatal dilated bowel 289f
Antenatal hydronephrosis 277
Antiepileptic drugs 261, 263
third generation of 263
Antithyroid drugs 230f
Aortic stenosis 235
Array comparative genomic hybridization 61, 187, 332, 344, 350
Arterial circulation 154
Artery, pulmonary 137f, 280
Arthrogyposis 142f
Aspirin 151
Assisted reproductive technology 6, 55
Atresia, intestinal 286
Autosomal recessive oligosyndactyly 299f
Azoospermia factor 65
B
Bacterial artificial chromosome 331, 342
Barbiturates 262
Benzodiazepines 263
Beta-human chorionic gonadotropin 88
Beta-ketothiolase deficiency 114f
Biochemical genetic tests 207
Biophysical profile score 148
Biparietal diameter 371, 372f, 374
measurement of 82f
Bipolar cord occlusion 198
Birth defect 15, 19, 22
Blood urea nitrogen 293
Bone marrow specimens 208
Bowel atresia 289f
Brain 127
sparing effect 157
Breast screening 73
Bronchopulmonary sequestration 281
C
Cannulas, types of 173f
Carbamazepine 263, 264
Cardiac failure, congestive 291
Cardiovascular system 308
Carpenter syndrome 298f
Carrier testing 204
Catheters, ultrasound placement of 174f
Cenani-Lenz syndrome 299f
Central nervous system 6, 56, 109, 285, 286, 308
dysfunction 109
Centrosomal protein 67
Cerebral
artery 9
palsy 147
Cerebroplacental ratio 160f
Cervical
canal 175
length 361
Cervices, types of 175f
Chemiluminescence immunoassay 366
Chicken pox 220
Chorioamnionitis 194
Chorion frondosum 171, 175, 176f
Chorionic villi 177f, 208
Chorionic villus sampling 3, 4, 63, 85, 165, 166, 171, 178180, 351
information 165t
Chorionicity, determination of 246
Choroid plexus 128f
cyst 81f, 129f
Chromosomal
disorders 55, 91
instability syndrome 47, 53
microarray 343, 344
analysis 341, 343
Chromosome
abnormalities, spectrum of 60
analysis 61
suite 342
Chylothorax 235
Cleft lip 82
Cleft palate 82
Color Doppler 5, 28, 31f, 154f
ductus venosus 5f
guidelines 161t
Congenital diaphragmatic hernia, treatment of 235
Congenital lung lesions, congenital 281
Conjoint twins 247
Contingent screening 96fc
Convex 185
Cordocentesis 168, 188, 188t, 194
advantages of 168
complications of 194
Corpus callosum, agenesis of 308
Craniosynostosis 298f
Crown rump length 4, 254
measurements 376
Cystic adenomatoid malformation 13, 137f, 281
Cystic fibrosis 207
transmembrane conductance regulator 207
Cystoscopy 295
Cystourethrogram 295
Cytogenetic testing 205
Cytomegalovirus 55, 222
D
Delivery
mode of 152, 250
timing of 148
Deoxyribonucleic acid 301
Diabetes 57, 57f
mellitus 367
Diaphragmatic hernia 13, 29, 82, 280f, 286, 287f
congenital 270, 280
Dichorionic diamniotic
lambda sign 251f
twins 25f
Dichorionic twin pregnancy 246f
Disseminated intravascular coagulation 292
District Advisory Committee 311
Donor blood 241
Doppler assessments 148
Down's syndrome 16, 18, 82, 83t, 91, 92, 92t, 133f
Ductus venosus 121, 122f, 158, 158f, 254
measurement of 121t
waveform 158f
Duodenal atresia 13
E
Eclampsia 363
Electropherogram 114f
Embryo
biopsy 212
development of 214
reduction, role of 247
Embryonic crown-rump length 374
Embryoscopy 169
Embryotoxicity 262
Endocervical mucus 83
Esophageal atresia 13
Estimated date of delivery 374
Estimated fetal weight percentile chart 371
Ethosuximide 262
Euploid fetus 120
Exomphalos 289, 290f
Extracorporeal membrane oxygenation 273, 285
Ex-utero intrapartum treatment procedure 273
F
Facial
anomalies 168
manifestations, spectrum of 297f
Fatty acid metabolism 112t
Femur length 145, 373f, 374
Fetal
abdomen 81
abnormalities 118
akinesia sequence 142f
alcohol
effects 56
syndrome 56
anemia 8, 189, 231
causes of 239
treatment of 238
aneuploidies 26f, 66, 126, 127, 330
detection of 25t
anomaly 204f
scan 126
anticonvulsant syndrome 261
aorta 155, 157f
arrhythmias 230
autopsy 296
blood
sampling 188, 190, 193t
specimen 192
bradycardia 168
brain 129f
cells 7, 82, 83
cerebral circulation 155
chromosome analysis 329
conditions 55
cystoscopy 198
demise 160
endoscopic balloon tracheal occlusion 12
endoscopic tracheal occlusion 198
genome analysis 331
growth percentile charts 371
growth restriction 124, 145, 145t, 146, 147, 149f-151f, 154, 159, 249
cause of 146
classification of 145
treatment of 148
head, transverse section of 81
heart rate 148, 359
abnormality 193
monitoring 148
hydantoin syndrome 262
hydronephrosis, causes of 277t
hydrops 189
hypoxia 146
infection 189, 224
injury 166, 185
interventions 281, 286
karyotypes 49t
loss 166, 185
lung mature 294
magnetic resonance imaging 7f, 281
manifestations 221
medicine team 21, 22f
middle cerebral artery Doppler assessment 31
nasal bone 81f
neuroprotection 363
nuchal translucency 81
reduction 231
resuscitation 274
rhesus 8
spine 81, 82f
surgery 233, 234, 270, 276
limitations of 275
principles of 234, 269
role of 280
therapy 12, 190, 282
antenatal use of 227
principles of 229
thorax 81
tissue sampling 168
tumors 239
ultrasonography 280
Fetendo technique 235
Fetoscope entry 257f
Fetoscopic
balloon valvuloplasty 235
cord occlusion 235
fetal surgery 235
surgery, limitations of 235
tracheal occlusion 235
Fetoscopy 169, 196
applications of 196
instruments 257f
membrane 257f
Fetus 286, 298f
and newborn, hemolytic disease of 231, 238
thorax of 233f
X-ray of 30
Fine needle aspiration 366
First trimester screening 80, 85, 89, 147
uterine artery flow 124f
Fluorescence in situ hybridization (FISH) 8f, 165, 206, 331, 341, 353
techniques, choice and resolution of 331
Folic acid 59, 361t
role of 280
supplementation 229, 264
Fulguration 295
G
Gas chromatography/mass spectrometry 207
Gastroschisis 289, 290, 291f
Genetic
counseling 35, 44, 211, 344
center 310
principles of 36
session 72
counselor, role of 36
disease, prevalence of 15, 15t
disorder 15, 58
healthcare 17, 19
Genitourinary tract 129
Genotypes and phenotypes, database of 335
German measles 222
Gestational diabetes mellitus 367
Gestational sac 371
Goiter 230f
Great asteries, transposition of 308
H
Head circumference 371, 372f
Health education 220
Heart 135f
block 231
disease, coronary 55
failure 158, 159f
Hematopoietic stem cell transplant 352
Hemorrhage
fetomaternal 239
intraventricular 147
postpartum 249
Hepatitis 222
Hereditary breast and ovarian cancer 70
Holoprosencephaly 297t
Human chorionic gonadotropin 3, 4, 56, 80f, 119
Human immunodeficiency virus 194, 224
Humerus length 371, 373f
Hydrocephalus 82, 130f
congenital 30
Hydronephrosis 140f, 276, 277, 277f, 293f
pelviureteric junction obstruction 294
Hydrops 242
cystic hygroma 50f
Hydrotherapy 152
Hydroureteronephrosis 292f
Hyperglycemia 366, 368t
Hyperthyroidism 229
Hypocalcemia 147
Hypoechoic thalami 128f
Hypoglycemia 147
Hypoplasia, pulmonary 294
Hypothermia 147
Hypothyroid fetus 230
Hypothyroidism 57
congenital 16, 98, 99, 101fc
Hypoxia 157f, 189
I
In vitro fertilization 6, 62, 89, 94, 310, 354
Incubation period 223
Indian Society of Prenatal Diagnosis and Therapy 19
Infantile polycystic kidney disease 285
Infection 55, 166, 178, 239
mode of 220, 222, 223
Infertile couple 61
Intensive care unit 152
Interhemispheric fissure 128f, 131f
International Diabetes Federation 367
International Federation of Gynecology and Obstetrics 361, 362t
International Standard Cytogenomic Array 330
Intestinal obstruction 288
Intracranial translucency 123, 124f
Intracytoplasmic sperm injection 55, 64, 89, 94, 214
Intrauterine
death 146, 297, 298f
fetal demise 283
growth restriction 55, 145, 196, 290
infections 218
transfusion 189, 231, 231f, 238
Isoimmunization 186
L
Lamotrigine 263, 264
Laser photocoagulation 255
Lemon sign 279f
Lethal hypophosphatasia 300f
Levetiracetam 263
Limb 81
abnormalities of 298
reduction defects 82
Local anesthesia 191
Low dose aspirin therapy 59
Low molecular heparin 59
Lower segment cesarean section 294
Lumbosacral spinal defect 279f
Lung 129, 137f, 287
Lysosomal storage disorders 108
M
Magnesium sulfate 363
maternal administration of 229
Malaria 224
Male infertility 63t
Mass spectrometry 111
Maternal
abdomen
puncture of 184f
transverse sweep of 183f
and child health 367
cell contamination 47
contamination 167
exposure 55, 56
fetal medicine 363
HIV 229
infections 194
mirror syndrome 282
plasma 8f
serum alpha fetoprotein 79
serum screening 18, 45t, 91
tests 45
Mean corpuscular
hemoglobin 59
volume 192
Meconium aspiration syndrome 146
Medical termination of pregnancy 56
Membranes
premature rupture of 187
preterm premature rupture of 198, 256
Meningomyelocele 234, 269, 273
study, management of 13, 270
Mentzer index 24
Methylene tetrahydrofolate reductase 59, 146
Microarrays test 207
Micrognathia 133f
Micturating cystourethrography 295f
Middle cerebral artery 9, 31f, 148, 149f, 155, 189, 240
Doppler waveform 149f
peak systolic velocity 231
Midtrimester amniocentesis 183
Mitochondrial DNA disorders 63
Molecular
cytogenetics 206, 331
genetic tests 206
Monochorionic
diamniotic
pregnancy 254
twins 25f
twin
pregnancy 246f
surveillance of 254f
Monozygotic twin 24
Mosaicism 47
Multicystic dysplastic kidney 292
Multifactorial disorders 55
Multifetal
gestation 245t
pregnancies
management of 245
reduction 180, 229, 231, 233
Multiple
abnormalities 143f, 144
gestation 123, 179, 186, 190
pregnancies 94, 124f
Multiplex
fluorescence in situ hybridization 332
ligation dependent probe amplification 207, 341
Muscular dystrophy 345
Myoma 176f
N
Nasal bone 120, 121f, 133f
National Institute for Health and Care Excellence 370
National Institute for Health and Care Excellence Guideline 369
National Institute of Child Health and Human Development 330
National Neonatal Forum of India 98
Neonatal
alloimmune thrombocytopenia 189, 239
complications 146
encephalopathy 147
intensive care unit 152, 288
necrotizing enterocolitis 157f
Neural tube defect 57, 82, 130f, 279, 360
prevalence of 360
Neurosonogram 26, 27
Newborn screening 18, 98, 106, 204
Non-communicable diseases 366
Nonimmune hydrops fetalis 298
Noninvasive prenatal
screening 24, 45
testing 83, 337, 350, 351
Nonochorionic fetuses 233
Non-recognized trisomy 50f
Nuchal translucencies 4, 5f, 81f, 86, 93, 118, 119f, 120, 254, 308, 359
measurement of 120t
scan 119
O
Occipitofrontal diameter 82f
Oligoamnios 146, 151f
Oligohydramnios 30
Omphalocele 82
Open fetal surgery 234, 272f
Organic acids 106
Osteogenesis imperfecta 82, 300f
Ovarian cancers 70
Oxcarbazepine 263
Oxygen therapy 151
P
Pallister-Killian syndrome 48f
Palpable bladder 293, 294
Pan ethnic program 24
Paraspinal hypoechoic structures 140f
Parental translocations 46
Parvovirus 239
Peak systolic velocity 189
Pedigree chart 25, 25f
Pelviureteric junction 292
obstruction 294
Percutaneous umbilical blood sampling 8, 165, 168
Periconceptional folic acid 360
Peripheral blood 208
chromosomal microarray 208
Periventricular leukomalacia 147
Persistent fetal circulation 147
Phenylketonuria 55, 98, 105
Phenytoin 262
Pierre-Robin syndrome 133f
Placenta 287
position of 272f
Placental
cord insertion site 231f
insufficiency 146
mosaicism 47, 48f
thrombosis 146
tumors 239
Pleuroamniotic shunt, insertion of 282f
Polycystic ovarian disease 55
Polydactyly 298f
Polyhydramnios 290
Polymerase chain reaction 64, 206
Polyploidy 52
Potocki-Lupski syndrome 345
Pre-conception and pre-natal diagnostic techniques 19, 306
Pregnancy 57, 261
associated plasma protein A 4, 80, 87, 88, 93, 359
hypertensive disorder of 249, 367
induced hypertension 55, 160
loss 167, 168, 178
Prenatal
care, pyramid of 118f
diagnosis sensitivity 21, 22t
karyotypes 47
Preterm birth, prevention of 361
Propylthiouracil 366
Prothrombotic disorders 66
Pulmonary airway
malformation, congenital 281
obstruction, congenital 237
Pulsatility index 124
Pyelectasis 140f
Q
Quadruple test 80
Qualitative metabolic urine screening test 111t
R
Radiofrequency ablation 283
Radioimmunoassay 366
Rashtriya Bal Swasthya Karyakram 99
Recurrent pregnancy loss 66, 79
Renal
agenesis 82
function tests 293
mass 293
pelvic anteroposterior diameter, classification of 277t
scan 295
Reproductive autonomy 305
Respiratory distress syndrome 146
Robertsonian translocation 51
Rubella 222
S
Sacrococcygeal teratoma 13, 235, 283f, 291, 291f
Sacrococcygeal tumor 283
Sanger sequencing 71f
Selective intrauterine growth restriction 249
Septostomy 256
Sex chromosomal aneuploidy and mosaicism 50
Sex-linked disorders 337
Sickle cell disease 351
Sildenafil citrate therapy 152
Single
gene disorders 15, 55
intrauterine device 248
nucleotide polymorphism 63, 341, 342, 344
umbilical artery 139
Skeletal dysplasia 31f
Skin preparation 191
Small for gestational age 145
Society of Fetal Ultrasound 278
Sonography 286, 295
Sperm
chromatin structure assay 64
DNA fragmentation 64
fluorescence in situ hybridization 65
Spina bifida 82, 123
Spine 129
Spontaneous abortions 66
Stenosis, pulmonary 308
Steroid therapy 59
Stomach 82, 280f
Supraventricular tachycardia 230
Syphilis 220
Systemic lupus erythematosus 59
T
Talipus equinovarus deformity, congenital 141f
Tandem mass 111
spectrometry 98, 101
Teratogen sensitivity timeline 23
Terminal villi 3
Testicular sperm aspiration 55
Thorax 129
Thrombocytopenia 189
Thyroid
disease 366, 366f
disorders 229
evaluation 366f
goiter 230
stimulating hormone 57
Topiramate 263
TORCH disease, detection of 219t
Toxoplasmosis 219
Tracheoesophageal fistula 138f
Transabdominal chorionic villus sampling 176
Transcervical sampling 173
Transient hyperammonemia 110
Transplacental therapy 190
Tricuspid regurgitation 28, 121, 122f, 158
measurement of 122t
Triple test 80
Triploid amniotic fluid karyotype 53f
Trisomy 3
13 127t
21 127t
Twin
anemia polycythemia sequence 248, 251, 254
oligo-polyhydramnios sequence 254
peak sign 246
pregnancy 166
reversed arterial perfusion sequence 251, 270
Twin-twin transfusion syndrome 196, 239, 248, 251, 252f, 253f, 254, 254f, 255, 258, 270
staging of 255t
U
Ultrasonic fetal measurement standards 371
Ultrasound 4, 80
fetal measurement standards chart 375
guided
amniocentesis 29f, 38f
chorionic tissue biopsy 39f
medical intervention 231
Umbilical artery 154, 156f, 157t, 254
Doppler 149f, 150f
flow pattern 156f
Umbilical cord 137
attachment 139
Umbilical vein 82, 158, 159f
Unilateral severe hydronephrosis 277f
Uniparental isodisomy 342
Urea cycle disorders 106
Urethra 286, 295
Urethral
abnormalities 82
valve 82, 236f, 278, 294, 295f
Urinary bladder 175f
Urinary stream 294
Uterine artery 155f
Doppler waveform 149f
waveform, abnormal 155f
Uterine circulation 154
Uteroplacental insufficiency 159
V
Valproic acid 263
Varicella zoster 220
Vas deferens, congenital bilateral absence of 65
Ventral wall abnormality 139f
Ventriculoamniotic shunts 237
Vesicoamniotic shunt 236f, 269f
Vesicoureteral reflux 292
Villi, anatomy of 179f
Vitamin 59t
K supplementation 265
W
World health organization 168, 186
Worldwide birth defects 91
Y
Y chromosome microdeletion testing 65
Yeast artificial chromosomes 331
Z
Zinc supplementation 59
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Chapter Notes

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