Genomics Precision Diagnostic > Prenatal > Omphalocele and Gastroschisis Precision Panel

Panel de precisión de onfalocele y gastrosquisis

El onfalocele, también conocido como exófalos, es un defecto de la pared abdominal en la línea media en la base del cordón umbilical donde se produce la hernia del contenido abdominal. Los órganos herniados están cubiertos por el peritoneo parietal.

Descripción general

Indicación

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

El onfalocele, también conocido como exófalos, es un defecto de la pared abdominal en la línea media en la base del cordón umbilical donde se produce la hernia del contenido abdominal. Los órganos herniados están cubiertos por el peritoneo parietal. La causa del onfalocele se postuló como una falla del intestino para regresar al abdomen a las 10-12 semanas. Los onfaloceles se asocian a otras anomalías en más del 70% de los casos, generalmente cromosómicas, y la gravedad viene dictada por las anomalías presentes. La principal dificultad de esta condición es la exclusión de las condiciones asociadas, no todas diagnosticadas prenatalmente. La gastrosquisis representa una hernia del contenido abdominal a través de un defecto de fusión abdominal paramediano de espesor total. La hernia abdominal, a diferencia del onfalocele, suele estar a la derecha del cordón umbilical. Por lo general, contiene intestino delgado y no tiene membrana circundante. Los desafíos en el manejo de la gastrosquisis están relacionados con la prevención de la muerte intrauterina tardía y la predicción y el tratamiento de formas complejas.
El panel de genes de onfalocele y gastrosquisis de Igenomix se puede utilizar como herramienta de detección de alteraciones genéticas subyacentes asociadas a estas afecciones. 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 genes de onfalocele y gastrosquisis Igenomix está indicado para aquellos pacientes con sospecha clínica de onfalocele y / o gastrosquisis que se manifiestan como:
- Hernia de intestinos a través de la pared abdominal.
- Polihidramnios en el útero
- Niveles elevados de α-fetoproteína en suero materno (MSAFP)

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 con un equipo multidisciplinario para el parto por cesárea, la reparación quirúrgica y el manejo de las condiciones asociadas subyacentes para prevenir complicaciones y, en última instancia, conducir a un mejor pronóstico de la enfermedad.
Evaluación de riesgo de familiares asintomáticos según el modo de herencia.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACTG2*	Familial Visceral Myopathy, Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome	AD	99.91	23 of 23
*ALG9*	Congenital Disorder Of Glycosylation Type II, Polycystic Kidney Disease Potter Type I With Microbrachycephaly, Hypertelorism And Brachymelia	AR	99.99	6 of 6
*AMER1*	Osteopathia Striata With Cranial Sclerosis	X,XD,G	99.45	NA of NA
*BHLHA9*	Camptosynpolydactyly, Gollop-Wolfgang Complex, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Tibial Aplasia-Ectrodactyly Syndrome	AR	43.88	6 of 7
*CD96*	C Syndrome	AD	100	4 of 4
*CDKN1C*	Beckwith-Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita And Genital Anomalies, Image Syndrome	AD	73.58	55 of 76
*CEP120*	Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Joubert Syndrome	AR	99.8	9 of 9
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHUK*	Cocoon Syndrome	AR	100	5 of 5
*COL11A1*	Autosomal Dominant Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome Type II, Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	AD,AR	100	104 of 106
*COL11A2*	Autosomal Dominant Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal Dysplasia, Stickler Syndrome Type III	AD,AR	99.98	58 of 58
*DACT1*	Townes-Brocks Syndrome, Craniorachischisis	AD	98.12	8 of 9
*DHCR7*	Smith-Lemli–Opitz Syndrome	AR	100	217 of 217
*DVL3*	Autosomal Dominant Robinow Syndrome	AD	100	16 of 16
*DYNC2H1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR,MU,D	99.78	214 of 221
*DYNC2I1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR	97.76	14 of 14
*DYNC2I2*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Verma-Naumoff Type	AR	99.54	23 of 23
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Lobar Holoprosencephaly, Microform Holoprosencephaly, Normosmic Congenital Hypogonadotropic Hypogonadism, Oligodontia, Septo-Optic Dysplasia Spectrum	AD	100	279 of 280
*FLNA*	X-Linked Cardiac Valvular Dysplasia, Frontometaphyseal Dysplasia, Periventricular Heterotopia, Chronic Neuronal Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Congenital Short Bowel Syndrome, X-linked Ehlers-Danlos Syndrome	X,XR,XD,G	100	NA of NA
*FLNB*	Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome	AD,AR	100	124 of 124
*FOXF1*	Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins, Congenital Alveolar Capillary Dysplasia	AD	95.93	74 of 96
*FRAS1*	Fraser Syndrome	AR	98.73	57 of 58
*FREM1*	Bifid Nose With Or Without Anorectal And Renal Anomalies, Manitoba Oculotrichoanal Syndrome,Trigonocephaly, Bnar Syndrome, Isolated Trigonocephaly, Oculotrichoanal Syndrome	AD,AR	97.32	27 of 30
*FREM2*	Unilateral Or Bilateral Cryptophthalmos, Fraser Syndrome	AR	99.92	31 of 33
*GPC3*	Simpson-Golabi–Behmel Syndrome, Wilms Tumor, Nephroblastoma	AD,X,XR,G	99.84	NA of NA
*GPC4*	Keipert Syndrome, Simpson-Golabi–Behmel Syndrome	AD,X,XR,G	98.43	NA of NA
*GRIP1*	Fraser Syndrome	AR	100	17 of 17
*H19-ICR*	Beckwith-Wiedemann Syndrome, Multiple Tumor-Associated Chromosome Region, Silver-Russell Syndrome	AD	na	na
*HIC1*	Miller-Dieker Syndrome		97.7	NA of NA
*HOXD13*	Brachydactyly-Syndactyly Syndrome, Vacterl/Vater Association	AD	90.98	21 of 31
*HYLS1*	Hydrolethalus Syndrome, Joubert Syndrome	AR	100	2 of 2
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	AR	99.96	16 of 16
*IFT81*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	98.97	7 of 9
*IGF2*	Beckwith-Wiedemann Syndrome, Silver-Russell Syndrome, Wilms Tumor, Isolated Hemihyperplasia	AD,X,XR,G	100	9 of 9
*ISL1*	Bladder Exstrophy		100	8 of 10
*KCNQ1*	Familial Atrial Fibrillation, Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long QT Syndrome, Short QT Syndrome, Romano-Ward Syndrome	AD,AR	93.23	600 of 624
*KCNQ1OT1*	Beckwith-Wiedemann Syndrome, Isolated Hemihyperplasia	AD	na	na
*LBR*	Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia	AD,AR	99.98	34 of 34
*LMOD1*	Megacystis–Microcolon-Intestinal Hypoperistalsis Syndrome		99.62	1 of 1
*LONP1*	Codas Syndrome	AR	99.84	21 of 21
*LRP2*	Donnai-Barrow Syndrome	AR	99.99	58 of 58
*MASP1*	3mc Syndrome	AR	100	29 of 30
*MBTPS2*	Ichthyosis Follicularis Atrichia And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta Type XIX, Palmoplantar Keratoderma, Bresek Syndrome, Ichthyosis Follicularis-Alopecia-photophobia Syndrome Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	X,XR,G	100	NA of NA
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MMP14*	Winchester Syndrome, Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum		99.91	6 of 6
*MMP2*	Multicentric Osteolysis Nodulosis And Arthropathy Spectrum	AR	100	24 of 24
*MTHFR*	Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity, Neural Tube Defects, Thrombophilia, Isolated Anencephaly, Isolated Exencephaly	AD,AR	100	122 of 122
*MYH11*	Familial Thoracic Aortic Aneurysm, Familial Aortic Dissection, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	AD	100	67 of 67
*MYLK*	Familial Thoracic Aortic Aneurysm, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	AD	99.95	50 of 50
*NEK9*	Arthrogryposis, Perthes Disease And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome, Nevus Comedonicus Syndrome	AR	99.98	4 of 4
*NFIX*	Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome	AD	94.42	75 of 81
*NXN*	Autosomal Recessive Robinow Syndrome	AR	98.03	2 of 4
*PAFAH1B1*	Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PIGN*	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Fryns Syndrome	AR	93.97	36 of 39
*PIGY*	Hyperphosphatasia With Mental Retardation Syndrome, Hyperphosphatasia-Intellectual Disability Syndrome	AR	100	1 of 2
*PORCN*	Focal Dermal Hypoplasia	X,XD,G	100	NA of NA
*PPP1R12A*	Genitourinary And/Or/Brain Malformation Syndrome	AD	99.48	1 of 1
*PPP2R3C*	Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy, Spermatogenic Failure	AD,AR	99.85	3 of 3
*PTCH1*	Basal Cell Nevus Syndrome, Holoprosencephaly, Alobar Holoprosencephaly, Gorlin Syndrome, Lobar Holoprosencephaly, Microform Holoprosencephaly, Midline Interhemispheric Variant Of Holoprosencephaly, Monosomy 9q22.3, Semilobar Holoprosencephaly, Septopreoptic Holoprosencephaly	AD	98.89	498 of 502
*RAB23*	Carpenter Syndrome	AR	100	15 of 15
*SEMA3E*	Charge Syndrome, Hypogonadotropic Hypogonadism Without Anosmia	AD,AR	99.81	6 of 7
*SF3B4*	Acrofacial Dysostosis, Nager Syndrome	AD	94.86	33 of 40
*SPECC1L*	Facial Clefting, Oblique, Hypertelorism, Opitz Gbbb Syndrome, Autosomal Dominant	AD	99.66	14 of 14
*THRA*	Congenital Nongoitrous Hypothyroidism	AD	100	24 of 24
*TP63*	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate, Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Limb-Mammary Syndrome, Rapp-Hodgkin Syndrome, Split-Hand/Foot Malformation, Adult Syndrome, Palate Syndrome, Bladder Exstrophy	AD	99.98	144 of 144
*TSHB*	Congenital Nongoitrous Hypothyroidism, Isolated Thyroid-stimulating Hormone Deficiency	AR	100	12 of 13
*TTC7A*	Gastrointestinal Defects And Immunodeficiency Syndrome, Combined Immunodeficiency- Enteropathy Spectrum, Multiple Intestinal Atresia	AR	100	44 of 45
*TWIST2*	Ablepharon-Macrostomia Syndrome, Barber-Say Syndrome, Focal Facial Dermal Dysplasia	AD,AR	99.82	9 of 9
*VANGL2*	Neural Tube Defects, Isolated Anencephaly, Isolated Exencephaly	AD	99.98	12 of 12
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Cranioectodermal Dysplasia, Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	AR	100	31 of 33
*WNT3*	Tetraamelia-Multiple Malformations Syndrome	AR	100	2 of 2
*YWHAE*	17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome		98.99	0 of 1
*ZIC3*	X-linked Visceral Heterotaxy, Vacterl Association With Hydrocephalus	X,XR,G	99.98	NA of NA

* 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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