Abortion Types, Complications, and Medical Conditions Discussed
Explore a comprehensive presentation covering various abortion types, associated complications, and medical conditions like osteogenesis imperfecta, renal agenesis, and more. Detailed insights provided on therapeutic abortion, traumatic abortion, and spontaneous abortion. Delve into a range of topics from LMP analysis to rare genetic disorders such as alpha thalassemia.
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Presentation Transcript
Therapeutic abortion Traumatic abortion Spuntaneouse abortion Criminal abortion
Osteogenesis imperfecta Osteochondrodysplasia Osteopetrosis infantile Bilateral renal agenesis Poly cystic kidney Multicystic dysplastic kidney Potter syndrome Congenital nephrotic syndrome and hydrops Severe bilateral hydro nephrosis Alpha thalassemia and hydrops fetalis Thrombotic disorders Osteogenesis imperfecta Osteochondrodysplasia Osteopetrosis infantile Bilateral renal agenesis Poly cystic kidney Multicystic dysplastic kidney Potter syndrome Congenital nephrotic syndrome and hydrops Severe bilateral hydro nephrosis Alpha thalassemia and hydrops fetalis Thrombotic disorders
Trisomy Anencephaly Cat cry syndrome Holoprosencephaly Syringomyelia Cranioschisis Meningoencephalocele meningohydroencephalocele Tanatophoric dysplasia Cyclobia with holoprosencephaly Trisomy13 Anencephaly Cat cry syndrome Holoprosencephaly Syringomyelia Cranioschisis Meningoencephalocele- - meningohydroencephalocele Tanatophoric dysplasia Cyclobia with holoprosencephaly 13- -18 18- -3 3- -16 16- -8 8
Grisel s syndrome Wiskott-Aldrich syndrome (WAS) Severe Combined Immune deficiency (SCID) syndrome Chediak-Higashi syndrome (CHS) Leukocyte Adhesion Deficiency syndrome (LADS) Severe Congenital Neutropenia (SCN) Chronic Granulomatous Disease (CGD) Hemophagocytic Lymphohystiocytosis (HLH)
- Acondroplasia I ) ( Osteogenesis Imperfecta ) AR ( Condrodysplasia punctata XL Diastrophic dysplasia ) ( Ellis- van creveld syndrome Acromesolic dysplasia ) ( Epiphyseal dysplasia C ongenita Metaphyseal dysplasia Spondyloepimetaphyseal dysplasia Metatropic dysplasia Thanatophoric dysplasia Campomelic dysplasia Asphyxiating Thoracic dysplasia - Stippled Epiphysis / / / / ( Radial Aplasia or Hypoplasia (Fanconi synd. /TAR synd.(thrombocytopenia with absent radius) / VATER anomaly /AASE synd. /Triphalangeal thumb (TPT) /Hypoplastic anemia/ CHD AASE VATER TAR / CHD )
- Autosomal dominant Larsen syndrome Amniotic band syndrome- Limb Reduction syndrome ( ) ) + + ( Ectrodactyly ectodermal dysplasia cleft syndrome ( EEc syndrome) EEC Multiple pterygium syndrome or Escobar syndrome ) + + ( Roberts syndrome (pseudothalidomide syndrome) CP CL Cornelia de lange syndrome / / - Acrocephalosyndactyly or Acrocephalopolysyndactyly (ACPS) (Apert synd./ Pfeiffer synd./ Carpenter synd./ Crouzon synd./ Saethre-Chotzen synd.) ) / / : ( Multiple cynostosis syndrome Malignant Infantile Osteopetrosis (MIO) I, II ,III Ateloosteogenesis Type I, II, III Congenital Hypophosphatasia + Hyperphosphatasemia RA Osteoectasia
- Major Betha- thalassemia Intermedia Beta-thalassemia Sickle-cell Disease (SCD) Beta- thalassemia/sickle cell ( /sc) Beta thalassemia/Delta-Beta thalassemia - ) ( ) H ( Alpha-thalassemia 1- Hemoglobin Barts 2- Hemoglobin H Disease ) Non deletional ) - 1 2 - D - - Another Hemoglobinopathies HbD/Sc / Sc /Sc / Sc / / / -triplication / -quadruplication + + + + + + + - - + - - Fanconi anemia
- Hemophilia A Factor VIII deficiency 8 1 5 - 1 ) ( A ) ( % % ... . * 9 1 5 - 1 ) ( B Hemophilia B Factor IV deficiency ( ( % % Von willebrand Disease (VWD) Type III 3 / / / / Lack of Factor II / V / VII / X XI / XIII Afibrinogenemia
- Glanzmann s thrombasthenia Bernard- Soulier Syndrome (BSS)
Unilateral pulmonary agenesis with other anomalies (renal agenesis , ) )... ( Bilateral Pulmonary Agenesis Bilateral Pulmonary Aplasia Bilateral Severe Pulmonary hypoplasia Thorax hypoplasia . * Type 0 Congenital Cystic Adenomatoid Malformation (Microcystic adenomatoid malformation) Laryngeal Atresia ) ( Asphyxiating thoracic Dystrophy (ATD) or (Jeune syndrome) Congenital central Hypoventilation syndrome (CCHS) Hereditary SP-B Deficiency SP-B ABCA3 Deficiency ABCA3 NKX2.1 Haploinsufficiency NKX2.1 Hereditary pulmonary alveolar proteinosis (PAP) Alveolar Capillary Dysplasia With Misalignment Of The Pulmonary Veins Pulmonary Lymphangiectasia Cystic Fibrosis (CF)
Trisomy (except sexual chromosomes) EX: Down Syndrome 21 ) x : ( . * . Monosomy (each of autosomal chromosomes) ) ( XO * Multiple synostosis Syndrome Triploidy polyploidy - ( Unbalanced Chromosome Abnormality G banding )
Toxoplasmasis Cytomegalovirus (CMV) Varicella Rubella B19 Parvovirus B19 .
- Phenylketonuria (PKU) Tyrosinemia / Tyrosinosis Homocystinuria ) ( Maple syrup urine disease (MSUD) Methylmalonic acidemia Isovaleric acidemia Propionic acidemia I Glutaric acidemia (Type I,II) II - Mitochondrial trifunctional protein (MTP) deficiency II MAD Glutaric aciduria type II (Multiple acyl-co A dehydrogenase deficiency) Carnitine/acylcarnitine translocase deficiency
- Carbamyl phosphate synthetase deficiency Ornithine transcarbamylase deficiency Argininosuccinate synthetase deficiency Argininosuccinate lyase deficiency Arginase deficiency N-Acetylglutamate synthetase deficiency N
- Gausher disease Niemann- Pick disease A/B/C /C A/B Tay-Sachs disease Sandhoff disease Gangliosidosis GM1 /GM2 GM1 / GM2 Leuko dystrophy ) / / / ( (Meta chromatic (MLD) / Krabbe / Canavan / Alexander) Neuronal ceroid lipofuscinosis type I / II (NCL) 2 1 MucoPolysaccaridosis (MPS) - 1 ) - 2 - 3 - 4 - 6 ( 7 Mucolipidosis type I / II I II - Mitochondrial myopathy encephalo pathy lactic acidosis and stroke-like episodes (MELAS) Myoclonic epilepsy and ragged red fibers (MERRF) Leber Hereditary optic Neuropathy (LHON) Pearson Marow pancreas syndrome Neurogenic weakness ataxia and retinitis pigmentosa (NARP) Leigh disease; subacute necrotizing encephalomyopathy Friedreich s ataxia (FA) Ataxia- Telangiectasia -
- Zellweger syndrome Chondro dys plasia I/II/III Refsam s disease Adreno leukodystrophy - Galactosemia Glycogen storage disease(GSD) Glycogenosis - Methylmalonic acidemia Isovaleric acidemia Propionic acidemia II , I Glutaric acidemia (Type I,II) L-2-Hydroxyglutaric aciduria L-2 *** .
Severe Valvular stenosis / regurgitation TS-TR-MS-MR-AR-AS-PR-PS TS-TR-MS-MR-AR-AS-PR-PS Heart valve Atresia as main lesion Ebstein s Anomaly with severe TR Coarctation syndrome + Hypoplastic Aortic arch Aortic interruption Complex Heart disease + Visceral abnormal situs ) ( (Heterotaxia syndrome) Single Ventricle Hypoplastic Left Heart syndrome (HLHS) Hypoplastic Right Heart syndrome (HRHS) Ectopia cordis Closure of foramen ovale & PDA (patent ductus Arteriosus) PDA Hydrops fetalis with cardiac origin ) / / ( (structural/ congestive heart failure d/ysrhythmia) Cardiomyopathy ) / / ( (Hypertrophic/ Restrictive/ Dilated) Heart tumors with outflow obstruction and space occupying ) ( Complex Congenital Heart Disease with Chromosomal disorder Congenital Heart Disease+ complete Heart Block (Grade 3) ) (
- Autosomal Recessive Polycystic Kidney (ARPKD) Fetal Nephrotic Syndrom ) ( Alport Syndrom Bilateral Renl Agenesis (potere syndrom) ) ( Bilateral Multicystic Dysplastic Kidney (MCDK) Bilateral Hypoplastic Dysplastic Kidney Hydrops Fetalis - Posterior Urethral Valve (PUV) + Severe Oligohydramnios / III ) ( Hydronephrosis (grade III) Severe Obstructive Uropathy + Severe Oligohydramnios Bilateral Hydronephrosis + severe Oligohydramnios / Bilateral Pulmunary Hypoplasia
- Cystinosis Hyperoxaluria (type I) I ) ( - VACTERL Associoation CHARGE Associoation (CHARGE Syndrom)
- Gastroschesis 13 Omphalocele 13 Diaphragmatic hernia Imperforated anus Cloacal cyst Caroli s syndrome ) ( - Zellweger syndrome Refsum disease Adreno leukodystrophy GRACILE syndrome Fabry disease Pompe disease Urea cycle disorder Mitochondrial disorder APEX syndrome Glycogen storage disease (GSD) type 4 4 Familial adenomatous polyposis (FAP) Wolman disease
- Cystic Fibrosis (CF) Wilson Alpha-1 antitrypsin deficiency ) ( - 1 Hemophagocytic lympho histiocytosis (HLH)
/ ) Anencephaly Prosencephaly Holopronsencephaly Exencephaly Hydrencephaly Hydrocephaly with other anomalies in the list, - 15 Hydrocephaly more than 15 mm Microcephaly Sever Craniosinostosis Cranioschisis Spina bifida aperta Syringomyelia Meningomyelocele Myeloencephalocele Dandy- Walker syndrom Arnold- Chiari malformation (Type II II ( Cerebellar Aplasia Cortex Atrophy + Hydrocephaly ) ( Neural Tube defects (NTD)
) Werdnig Hoffman Syndrom FSMA I ) ( - Duchenne Muscular Dystrophy (DMD) ) Autosomal Trisomies ) ( 21 ) ( 18 ) ( 13 Fragile X Syndrom (FXS) X . ) ( Triple x x
- ) MucoPolysaccaridosis MPS ) ( Gangliosidosis GM1 Tay-Sachs disease GM2 Sandhoff disease Lysosomal storage disease ) ( Gausherdisease Niemann- Pick disease Leuko dystrophy : Krabbe Meta chromatic ( MLD ) ) ( disease Zellweger Neo Natal Adrenoleukodystrophy ( ADL ) X- Linked Proxismal
