Genomics Precision Diagnostic > Prenatal > Hydrops Fetalis Precision Panel

Panel de precisión de Hidropesía fetal

La hidropesía fetal es una afección fetal letal definida como la acumulación anormal de líquido en dos o más compartimentos fetales que se presenta como ascitis, derrame pleural, derrame pericárdico y edema cutáneo.

Descripción general

Indicación

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

La hidropesía fetal o hidropesía fetal es una condición fetal letal definida como la acumulación anormal de líquido en dos o más compartimentos fetales que se presenta como ascitis, derrame pleural, derrame pericárdico y edema cutáneo. También puede estar asociado con polihidramnios y edema placentario. La hidropesía generalmente se detecta mediante ecografía en el primer o segundo trimestre del embarazo. La etiología puede ser inmune o no inmune. La hidropesía fetal inmune se debe a la incompatibilidad Rhesus (Rh) o ABO y otros anticuerpos del grupo sanguíneo que causan la enfermedad hemolítica del recién nacido. La hidropesía fetal no inmunitaria se puede dividir en fetal, materna, placentaria e idiopática. Un amplio espectro de causas genéticas puede conducir a hidropesía fetal no inmunitaria (NIHF), por lo que es necesaria una evaluación fenotípica y genética para determinar la etiología subyacente. El modo de herencia es generalmente autosómico recesivo y autosómico dominante, aunque se han identificado varias patologías relacionadas ligadas al cromosoma X.
El panel de precisión Igenomix de síndrome de hidropesía fetal se puede utilizar para hacer un diagnóstico directo y preciso que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.

Indicaciones

El panel de precisión Igenomix Hydrops Fetalis Syndrome Precision Panel está indicado para aquellos pacientes con hallazgos ecográficos sugestivos de hidrops fetalis o con las siguientes manifestaciones:
- Embarazo gemelar
- Muerte fetal previa
- Ictericia prolongada o excesiva en hermanos recién nacidos
- Antecedentes familiares de trastornos genéticos, anomalías cromosómicas o enfermedades metabólicas.
- Polihidramnios u oligohidramnios
- Evidencia de enfermedad viral en la madre o el feto.
- Disminución de los movimientos fetales.
- Taquiarritmias fetales
- Antecedentes maternos de: tipo de sangre Rh negativo, presencia conocida de anticuerpos del grupo sanguíneo isoinmune, uso de drogas ilícitas, enfermedad vascular del colágeno, traumatismo abdominal cerrado, coagulopatía, hemoglobinopatía, etc.

Utilidad clínica

La utilidad clínica de este panel es:

La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
Inicio temprano del tratamiento en forma de derivación temprana a un centro de alto riesgo, asesoramiento multidisciplinario y coordinación estrecha entre especialistas obstétricos y neonatales o tratamiento fetal invasivo temprano.
Evaluación de riesgo de familiares asintomáticos según el modo de herencia.
Mejora de la delimitación de la correlación genotipo-fenotipo.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*A2ML1*	Noonan Syndrome	AD,MU,P	100	23 of 23
*ADA2*	Childhood- Onset Polyarteritis Nodosa, Sneddon Syndrome, Blackfan– Diamond Anemia	AR	100	NA of NA
*ADAMTS3*	Hennekam Lymphangiectasia- lymphedema Syndrome, Hennekam Syndrome	AR	99.97	4 of 4
*AGGF1*	Klippel-trenaunay Syndrome		99.96	1 of 1
*AHCY*	Hypermethioninemia With S-adenosy- lhomocysteine Hydrolase Deficiency	AR	100	11 of 11
*ALG1*	Congenital Disorder Of Glycosylation Type Ik	AR	100	46 of 46
*ALPK3*	Familial Hypertrophic Cardiomyopathy	AR	97.29	7 of 7
*ASAH1*	Farber Lipogranulomatosis, Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy, Farber Disease	AR	99.98	69 of 70
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome	AD	100	80 of 80
*BSND*	Infantile Bartter Syndrome With Sensorineural Deafness	AR	99.95	21 of 21
*CALCRL*	Lymphatic Malformation	AR	99.89	1 of 1
*CARS2*	Combined Oxidative Phosphorylation Deficiency	AR	99.14	6 of 6
*CASP10*	Autoimmune Lymphoproliferative Syndrome Type Iia , Familial Non- hodgkin Lymphoma, Autoimmune Lymphoproliferative Syndrome	AD	99.86	6 of 6
*CBL*	Juvenile Myelomonocytic Leukemia, Noonan Syndrome-like Disorder With Or Without Juvenile Myelomonocy- ticleukemia, Aggressive Systemic Mastocytosis, Noonan Syndrome	AD	100	46 of 47
*CCBE1*	Hennekam Lymphangiectasia- lymphedema Syndrome, Hennekam Syndrome	AR	100	16 of 16
*CDAN1*	Dyserythropoietic Congenital Anemia Type I	AR	99.59	68 of 68
*COL11A1*	Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type II, Autosomal Dominant Myopia- midfacial Retrusion- sensorineural Hearing Loss- rhizomelic Dysplasia Syndrome	AD,AR	100	104 of 106
*COL1A1*	Caffey Disease, Ehlers-danlos Syndrome Type VII, Osteogenesis Imperfecta, Arthrochalasia Ehlers-danlos Syndrome, Dermatofibrosarcoma Protuberans	AD	99.98	1156 of 1159
*COL1A2*	Osteogenesis Imperfecta, Arthrochalasia Ehlers-Danlos Syndrome, Cardiac-Valvular Ehlers-danlos Syndrome	AD,AR	100	576 of 581
*COL2A1*	Achondrogenesis Type II, Czech Dysplasia Metatarsal Type, Epiphyseal Dysplasia Multiple, With Myopia And Conductive Deafness, Kniest Dysplasia, Legg- Calve-Perthes Disease, Platyspondylic Lethal Skeletal Dysplasia, Spondyloepimetaphyseal Dysplasia, Stickler Syndrome, Dysspondyloen- chondromatosis, Kniest Dysplasia, Spondyloepim- etaphyseal Dysplasia Congenita	AD,MU	100	583 of 583
*CTSA*	Neuraminidase Deficiency With Beta-Galactosidase Deficiency, Galactosialidosis	AR	100	40 of 40
*DYNC2H1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma- Naumoff Type	AR,MU,D	99.78	214 of 221
*DYNC2I1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma- Naumoff Type	AR	97.76	14 of 14
*DYNC2I2*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma- naumoff Type	AR	99.54	23 of 23
*EPB41*	Hereditary Elliptocytosis	AD,AR	99.69	11 of 11
*EPHB4*	Capillary Malformation- Arteriovenous Malformation, Nonimmune Hydrops Fetalis	AD	100	65 of 65
*FAS*	Autoimmune Lymphoproliferative Syndrome, Behçet Disease, Vog– Koyanagi-Harada Disease	AD	100	135 of 135
*FASLG*	Autoimmune Lymphoproliferative Syndrome	AD	99.98	8 of 9
*FAT4*	Hennekam Lymphangiectasia- Lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome, Hennekam Syndrome	AR	99.8	41 of 41
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Amyotrophic Lateral Sclerosis, Bilateral Parasagittal Parieto- Occipital Polymicrogyria, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FLNB*	Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome, Atelosteogenesis	AD,AR	100	124 of 124
*FLT4*	Congenital Heart Defects, Lymphatic Malformation, Milroy Disease, Tetralogy Of Fallot	AD	100	119 of 120
*GATA1*	X-linked Anemia With OrmWithout Neutropenia And/Or Platelet Abnormalities, Down Syndrome, Dyserythropoietic Anemia With Thrombocytopeni, Beta-thalassemia-X-linked Thrombocytopenia Syndrome, Blackfan-Diamond Anemia, Congenital Erythropoietic Porphyria, Thrombocytopenia With Congenital Dyserythropoietic Anemia	X,XR,G	99.93	NA of NA
*GATB*	Combined Oxidative Phosphorylation Deficiency	AR	99.98	NA of NA
*GATC*	Combined Oxidative Phosphorylation Deficiency	AR	100	1 of 1
*GBA*	Perinatal Lethal Gaucher Disease, Gaucher Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome	AD,AR	100	469 of 471
*GBE1*	Glycogen Storage Disease IV, Adult Polyglucosan Body Disease	AR	99.95	71 of 74
*GRIP1*	Fraser Syndrome	AR	100	17 of 17
*GUSB*	Mucopolysaccharidosis, Type VII	AR	100	65 of 66
*GYPC*	Hereditary Elliptocytosis		100	1 of 1
*HADHA*	Long-Chain 3-Hydroxyacyl- CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency	AR	100	75 of 75
*HADHB*	Mitochondrial Trifunctional Protein Deficiency	AR	99.99	66 of 68
*HBA1*	Alpha-Thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Alpha- Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16, Hb Bart’s Hydrops Fetalis	AD	98.87	125 of 152
*HBA2*	Alpha-Thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Alpha-Thalassemia- Intellectual Disability Syndrome Linked To Chromosome 16, Hb Bart’s Hydrops Fetalis	AD	74.46	118 of 231
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma- Naumoff Type	AR	99.96	16 of 16
*KIAA0586*	Joubert Syndrome, Short-Rib Thoracic Dysplasia With Polydactyly, Joubert Syndrome	AR	99.84	31 of 32
*KLF1*	Dyserythropoietic Congenital Anemia Type IV, Blood Group- Lutheran Inhibitor, Hereditary Persistence Of Fetal Hemoglobin– Beta-Thalassemia Syndrome	AD	99.76	48 of 50
*KRAS*	Aplasia Cutis Congenita With Epibulbar Dermoids, Cardiofaciocutaneous Syndrome, Noonan Syndrome, Ras- associated Autoimmune Lymphoproliferative Syndrome Type IV, Somatic, Schimmelpenning– Feuerstein-Mims Syndrome, Cardiofaciocutaneous Syndrome, Encephalocran- iocutaneous Lipomatosis, Toriello-Lacassie– Droste Syndrome	AD	100	38 of 38
*LBR*	Hydrops-Ectopic Calcification-Moth- Eaten Skeletal Dysplasia, Pelger- Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia	AD,AR	99.98	34 of 34
*LZTR1*	Noonan Syndrome	AD	99.99	136 of 136
*MAP2K1*	Cardiofaciocutaneous Syndrome, Melorheostosis, Noonan Syndrome	AD	100	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis- Noonan Syndrome	AD	100	37 of 37
*MRAS*	Noonan Syndrome	AD	100	3 of 3
*NEK1*	Amyotrophic Lateral Sclerosis, Short Rib-Polydactyly Syndrome, Type II, Orofaciodigital Syndrome	AD,AR,MU,D	99.83	73 of 74
*NEK9*	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome	AR	99.98	4 of 4
*NEU1*	Neuraminidase Deficiency, Congenital Sialidosis Type 2	AR	100	68 of 68
*NF1*	Juvenile Myelomonocytic Leukemia, Neurofibromatosis- Noonan Syndrome, Watson Syndrome	AD	97.97	3082 of 3166
*NRAS*	Noonan Syndrome, Ras-associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning– Feuerstein-Mims Syndrome, Noonan Syndrome	AD	100	15 of 15
*PIEZO1*	Dehydrated Hereditary Stomatocytosis, Hereditary Lymphedema	AD,AR	99.98	107 of 107
*PIGA*	Multiple Congenital Anomalies- Hypotonia-Seizures Syndrome, Paroxysmal Nocturnal Hemoglobinuria, West Syndrome	X,XR,G	97.98	NA of NA
*PKLR*	Elevated Adenosine Triphosphate Of Erythrocytes, Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	AD,AR	100	283 of 285
*PLD1*	Developmental Cardiac Valvular Defect	AR	99.98	4 of 4
*PMM2*	Congenital Disorder Of Glycosylation Type Ia	AR	100	127 of 129
*PPP1CB*	Noonan Syndrome-like Disorder With Loose Anagen Hair	AD	99.87	12 of 12
*PRKCD*	Common Variable Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PTH1R*	Chondrodysplasia, Eiken Skeletal Dysplasia, Metaphyseal Chondrodysplasia, Blomstrand Lethal Chondrodysplasia, Ollier Disease	AD,AR	100	48 of 48
*PTPN11*	Juvenile Myelomonocytic Leukemia, Leopard Syndrome, Metachondromatosis, Noonan Syndrome	AD	100	150 of 151
*QRSL1*	Combined Oxidative Phosphorylation Deficiency	AR	99.91	6 of 7
*RAF1*	Dilated Cardiomyopathy, Leopard Syndrome, Noonan Syndrome	AD	100	64 of 64
*RASA2*	Noonan Syndrome		99.82	5 of 5
*RASGRP1*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	98.41	8 of 9
*RIT1*	Noonan Syndrome	AD	99.85	27 of 27
*RPL11*	Diamond-Blackfan Anemia	AD	100	52 of 52
*RPL15*	Diamond-Blackfan Anemia	AD	99.74	8 of 9
*RPL18*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPL26*	Diamond-Blackfan Anemia	AD	92.97	1 of 1
*RPL27*	Diamond-Blackfan Anemia	AD	100	2 of 2
*RPL31*	Diamond-Blackfan Anemia		100	0 of 1
*RPL35*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPL35A*	Diamond-Blackfan Anemia	AD	100	12 of 12
*RPL5*	Diamond-Blackfan Anemia	AD	100	95 of 95
*RPS10*	Diamond-Blackfan Anemia	AD	100	7 of 7
*RPS15A*	Diamond-Blackfan Anemia	AD	98.74	1 of 1
*RPS17*	Diamond-Blackfan Anemia	AD	0	0 of 7
*RPS19*	Diamond-Blackfan Anemia	AD	78	159 of 165
*RPS24*	Diamond-Blackfan Anemia	AD	90.17	11 of 14
*RPS26*	Diamond-Blackfan Anemia	AD	100	28 of 29
*RPS27*	Diamond-Blackfan Anemia	AD	99.85	1 of 1
*RPS28*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPS29*	Diamond-Blackfan Anemia	AD	100	4 of 4
*RPS7*	Diamond-Blackfan Anemia	AD	100	7 of 10
*RRAS*	Noonan Syndrome		95.86	3 of 3
*RRAS2*	Noonan Syndrome	AD	99.8	6 of 6
*RYR1*	Central Core Disease Of Muscle, Minicore Myopathy With External Ophthalmoplegia, Congenital Myopathy, With Fiber-Type Disproportion, Centronuclear Myopathy, Benign Samaritan Congenital Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia	AD,AR	97.63	733 of 746
*SHOC2*	Noonan Syndrome-like Disorder With Loose Anagen Hair	AD	99.98	8 of 8
*SLC17A5*	Infantile Sialic Acid Storage Disorder	AR	99.91	49 of 49
*SLC26A2*	Achondrogenesis, Diastrophic Dysplasia , Epiphyseal Dysplasia, Atelosteogenesis Type II, Diastrophic Dwarfism	AR	99.59	51 of 56
*SOS1*	Noonan Syndrome, Hereditary Gingival Fibromatosis	AD	100	103 of 104
*SOS2*	Noonan Syndrome	AD	99.48	6 of 7
*SOX18*	Hypotrichosis– Lymphedema– Telangiectasia-Renal Defect Syndrome	AD,AR	67.33	5 of 7
*SPTA1*	Hereditary Elliptocytosis, Hereditary Spherocytosis	AD,AR	100	106 of 107
*SPTB*	Hereditary Elliptocytosis, Hereditary Spherocytosis	AD	100	152 of 152
*TALDO1*	Transaldolase Deficiency	AR	95	13 of 14
*TAPT1*	Complex Lethal Osteochondrodysplasia	AR	89.49	3 of 3
*TRIP11*	Achondrogenesis, Osteochondrodysplasia	AR	98.94	20 of 21
*TSR2*	Diamond-Blackfan Anemia With Mandibulofacial Dysostosis	X,XR,G	99.96	NA of NA
*UROS*	Congenital Erythropoietic Porphyria	AR	100	44 of 50
*VAC14*	Childhood-Onset Striatonigral Degeneration, Yunis-Varon Syndrome	AR	100	11 of 11
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	100	31 of 33
*WNT7A*	Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly, Ulna And Fibula, Absence Of, With Severe Limb Deficiency, Phocomelia	AR	100	10 of 10

* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica

** HGMD: número de mutaciones clínicamente relevantes según HGMD

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