Fetopathology and developmental pathology of the embryo and fetus: Chromosomal abnormalities

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+ Support

+ Atlas of fetal pathology

+ Congenital malformations

+ Physiological developement of an embryo and fetus, growth and changes of the external shape

+ Congenital malformations and congenital anomalies

+ Basic terminology

+ Etiology of congenital anomalies (CA)

+ Environmental causes of congenital anomalies, congenital infections

+ Rubella

+ Cytomegalovirus

+ Syphilis

+ Toxoplasmosis

+ Diabetes mellitus (DM) and pregnancy

+ Diabetic embryopathy

+ Diabetic fetopathy

+ Genetic causes of congenital malformations

+ Chromosomal abnormalities

+ Down syndrome

+ Klinefelter syndrome

+ Turner syndrome

+ Patau syndrome

+ Edwards syndrome

+ Triploidy

+ Single gene disorders

+ Tuberous sclerosis

+ Miscellaneous malformation syndromes, sequences and associations, unclassified

+ Sirenomelia (Mermaid syndrome)

+ Hydrops fetalis

+ Immune hydrops (erythroblastosis fetalis, hemolytic disease of the newborn)

+ Nonimmune hydrops

+ Hygroma colli cysticum

+ Pierre-Robin sequence

+ Caudal regression syndrome (sacral agenesis)

+ VACTERL association

+ Pathology of twinning

+ Complications of monochorionic diamnionic placentation

+ Chronic twin transfusion syndrome

+ Acute twin-twin transfusion

+ Complications of monochorionic monoamnionic placentation

+ Congenital malformations in twins

+ Chorangiopagus parasiticus (acardius)

+ Pathology of higher multiple gestations: triplets

+ Monsters

+ Monstra duplicia

+ Gemini monochoriati inequales

+ Duplicitas symmetros

+ Asymmetric dual monsters

+ Monstra simplicia

+ Congenital malformations of individual organ systems

+ Congenital malformations of the central nervous system

+ Congenital malformations of the spinal cord

+ Spina bifida

+ Myeloschisis (rachischisis posterior)

+ Congenital malformations of the brain

+ Anencephaly

+ Iniencephaly

+ Encephalocele

+ Arnold-Chiari malformation

+ Disorders of formation of the structures derived from the mediobasal prosencephalon

+ Migration disorders

+ Destructive lesions of fetal brain (disruptions)

+ Porencephaly

+ Hydranencephaly

+ Hydrocephalus

+ Dandy-Walker malformation

+ Intracranial non-neoplastic cysts

+ Arachnoid cyst

+ Neuroepithelial cyst

+ Congenital malformations of the respiratory system

+ Congenital cystic adenomatoid malformation (CCAM)

+ Lobar sequestration

+ Congenital lobar emphysema

+ Pulmonary hyperplasia

+ Pulmonary hypoplasia

+ Congenital pulmonary lymphangiectasia

+ Diaphragm and congenital malformations

+ Congenital malformations of kidneys and efferent urinary tracts

+ Renal agenesis

+ Variations of shape and position of the kidneys

+ Renal cystic disease

+ Infantile polycystic kidneys (ARKPD)

+ Renal dysplasia

+ Adult polycystic kidneys (ADPKD)

+ Autosomal dominant polycystic kidney disease in infant and fetus

+ Lower urinary tract obstruction

+ Posterior urethral valves

+ Congenital tubular renal dysgenesis

+ Urinary bladder

+ Hypospadia

+ Congenital malformations of genital system and somatosexual congenital disorders

+ Somatosexual disorders

+ Somatosexual disorders with normal karyotype

+ Pseudohermaphroditism masculinus

+ Androgen insensitivity syndrome, testicular feminization syndrome, female XY

+ Pseudohermaphroditism femininus

+ Congenital adrenal hyperplasia

+ Somatosexual disorders with pathologic karyotype

+ Congenital malformations of female genitalia

+ Congenital malformations of the internal genitalia

+ Congenital malformations associated with congenital malformations of urinary system

+ Congenital malformations of the vulva

+ Congenital malformations of the male genital organs

+ Cryptorchidism

+ Congenital malformations of penis and scrotum

+ Smith-Lemli-Opitz syndrome (SLOS)

+ Congenital tumors

+ Sacrococcygeal teratoma

+ Congenital cardiac rhabdomyoma

+ Congenital heart defects

+ Defects of heart septum

+ Atrial septal defects

+ Ventricular septal defects

+ AV septal defects

+ Anomalies of the great arteries

+ Transposition of the great arteries

+ Truncus arteriosus

+ Double-outlet right ventricle

+ Malformations of the valves

+ Tricuspid atresia

+ Stenosis and atresia of the mitral valve, the hypoplastic left heart syndrome

+ Stenosis of the pulmonary artery

+ Pulmonary atresia with intact ventricular septum

+ Tetralogy of Fallot

+ Aortic stenosis

+ Malformations of the aortic arch system

+ Persistence of ductus arteriosus

+ Coarctation of the aorta

+ Interruption of the aortic arch

+ Right-sided aortic arch

+ Malformations of the venous system

+ Anomalies of situs and heart position

+ Di George syndrome

+ Congenital malformations of the gastrointestinal tract

+ Oral cavity and the palate

+ Cleft lip and palate

+ Congenital defects of the esophagus

+ Atresia

+ Congenital esophagus stenoses

+ Congenital malformations of the stomach

+ Congenital malformations of the intestines

+ Atresia

+ Malrotation of the intestine

+ Remnants of the omphalomesentric duct

+ Anorectal malformations

+ Duplicatures

+ Defects of the abdominal wall

+ Omphalocele

+ Gastroschisis

+ Limb-body wall complex

+ Pentalogy of Cantrell

+ Developemental anomalies of the skeleton

+ Defects of growth of tubular bone and/or spine

+ Thanatophoric dysplasia

+ Diastrophic dysplasia

+ Abnormalities of density of cortical diaphyseal structure or metaphyseal modeling

+ Osteogenesis imperfecta

+ Limb malformations

+ Terminal transverse limb defects

+ Radial ray defects

+ Finger anomalies

+ Club foot

+ Constriction (amniotic) band syndrome

+ Placental inflammation

+ Ascending infections

+ Placental inflammation, acute

+ Hematogenous infections

+ Fetomaternal listeriosis

+ Pathology of the fetal membranes

+ Amniotic band syndrome

+ Meconium staining

+ Candida infection of the placenta

+ Pathology of the placenta

+ Normal placenta

+ Extrauterine gravidity

+ Gestational trophoblastic disease (GTD)

+ Hydatidiform mole

+ Complete mole

+ Partial mole

+ Invasive mola (mole proliferans, mole destruens)

+ Gestational choriocarcinoma

+ Placental site trophoblastic tumor

+ Placenta and major chromosomal abnormalities

+ Hydropic placenta

+ Pathology of the umbilical cord

+ Abnormal length

+ Short cord

+ Long cord

+ Insertion abnormalities

+ Abnormal coiling

+ Umbilical vessels pathology

+ Umbilical cord accidents which compromise the blood flow

+ Thrombosis of umbilical blood vessels

+ Umbilical cord inflammation

+ Acute funisitis

+ Subacute necrotizing funisitis

+ Miscellaneous rare cord lesions

Chromosomal abnormalities

Introduction

Chromosomal abnormalities are present in 10 – 15 % cases of liveborn infants with congenital malformations. The most frequent syndromes are described bellow (the most frequent ones come first):

Down syndrome
Klinefelter syndrome and its variants
Turner syndrome
Patau syndrome
Edwards syndrome
Triploidy

Down syndrome

Klinefelter syndrome

Turner syndrome

Patau syndrome

Edwards syndrome

Triploidy