Genomics Precision Diagnostic > Prenatal > Oligohydramnios Precision Panel

Panel de precisión de oligohidramnios

El oligohidramnios se define como un volumen anormalmente bajo de líquido amniótico. El líquido amniótico es crucial para el desarrollo y el crecimiento fetal, ya que sirve como protección contra traumas e infecciones y ayuda al desarrollo de los pulmones fetales.

Descripción general

Indicación

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

El oligohidramnios se define como un volumen anormalmente bajo de líquido amniótico. El líquido amniótico es crucial para el desarrollo y el crecimiento fetal, ya que protege al feto de traumatismos e infecciones y ayuda al desarrollo de los pulmones fetales. El líquido amniótico normal varía, en promedio puede alcanzar hasta 800-1000 ml. Un exceso de líquido amniótico se denomina polihidramnios, la disminución de líquido amniótico es oligohidramnios. Ocurre en aproximadamente el 11% de todos los embarazos. Las causas del oligohidramnios incluyen ruptura de membranas, bloqueo del tracto urinario fetal (agenesia renal, válvulas uretrales posteriores o enfermedad renal poliquística) que pueden tener antecedentes genéticos asociados con otras afecciones genéticas. La mortalidad es alta, especialmente si se diagnostica durante el primer trimestre, ya que puede aumentar el riesgo de fijación de la pared torácica e hipoplasia pulmonar.
El panel de precisión de oligohidramnios de Igenomix se puede utilizar para realizar un diagnóstico diferencial directo y preciso de oligohidramnios y descubrir la genética subyacente a este signo clínico que, en última instancia, conduce a un mejor manejo y a lograr un bebé sano en casa. 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 Oligohidramnios de Igenomix esta indicado para aquellos pacientes con hallazgos clínicos y ecográficos de oligohidramnios que presenten:
- Malestar abdominal
- Índice de líquido amniótico <7cm
- Encuesta de estructura fetal que revela anomalías congénitas

Utilidad clínica

La utilidad clínica de este panel es:

La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
Inicio precoz del tratamiento con un equipo multidisciplinario para la hospitalización y manejo obstétrico en caso de parto prematuro y que proporcione una hidratación adecuada.
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	HGMD**
*ACE*	Renal Tubular Dysgenesis	AR	88.42	40 of 44
*AGT*	Essential Hypertension, Renal Tubular Dysgenesis	AR,MU	100	16 of 18
*AGTR1*	Essential Hypertension, Renal Tubular Dysgenesis	AR,MU	100	8 of 8
*ALB*	Congenital Analbuminemia	AR	100	41 of 41
*ALG8*	Congenital Disorder Of Glycosylation Type Ih, Polycystic Liver Disease With Or Without Kidney Cysts	AD,AR	99.5	22 of 22
*ALG9*	Congenital Disorder Of Glycosylation, Type Il, Polycystic Kidney Disease Potter Type I, With Microbrachycephaly, Hypertelorism And Brachymelia	AR	99.99	6 of 6
*ALX4*	Craniosynostosis, Enlarged Parietal Foramina, Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome, Isolated Scaphocephaly, Potocki-Shaffer Syndrome	AD,AR	99.94	25 of 25
*AMER1*	Osteopathia Striata With Cranial Sclerosis Syndrome	X,XD,G	99.45	NA of NA
*ASCL1*	Congenital Failure of Autonomic Control, Haddad Syndrome	AD	97.86	1 of 4
*ATRX*	Alpha-Thalassemia Myelodysplasia Syndrome, Mental Retardation-Hypotonic Facies Syndrome, Carpenter-Waziri Syndrome, Chudley-Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman-Myers Syndrome	X,XR,XD,G	98.5	NA of NA
*B9D1*	Joubert Syndrome, Meckel Syndrome	AR	90.23	11 of 11
*B9D2*	Meckel Syndrome	AR	84.81	4 of 5
*BMPER*	Diaphanospondylodysostosis	AR	99.98	22 of 22
*BNC2*	Congenital Lower Urinary Tract Obstruction, Posterior Urethral Valve	AD	98.85	14 of 14
*BRCA1*	Fanconi Anemia Complementation Group S	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Fanconi Anemia Complementation Group D1, Medulloblastoma, Wilms Tumor, Nephroblastoma	AD,AR,MU	98.51	3343 of 3451
*BRIP1*	Fanconi Anemia Complementation Group J	AD,AR	94.97	235 of 237
*BUB1B*	Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*C1QBP*	Combined Oxidative Phosphorylation Deficiency	AR	99.89	6 of 6
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome,	AR	99.43	98 of 100
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior-Loken Syndrome	AR	96.47	293 of 327
*CEP55*	Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly, Meckel Syndrome	AR	99.22	3 of 3
*CERT1*	Autosomal Dominant Mental Retardation	AD	99.98	8 of 8
*CHRM3*	Absence of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism, Prune Belly Syndrome	AR	99.8	4 of 4
*CLTCL1*			100	22 of 22
*COG5*	Congenital Disorder Of Glycosylation Type III	AR	100	19 of 19
*COQ2*	Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome With Nephrotic Syndrome	AD,AR	99.61	37 of 38
*COQ7*	Primary Coenzyme Q10 Deficiency	AR	99.71	6 of 6
*CPT2*	Carnitine Palmitoyltransferase II Deficiency	AD,AR	99.99	116 of 116
*CSPP1*	Joubert Syndrome, Meckel Syndrome	AR	98.32	29 of 30
*DHPS*	Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	AR	99.85	4 of 4
*DOCK6*	Adams-Oliver Syndrome	AR	98.06	37 of 37
*DONSON*	Microcephaly-Micromelia Syndrome	AR	98.14	26 of 27
*EFEMP2*	Autosomal Recessive Cutis Laxa	AR	99.99	17 of 17
*ERCC4*	Fanconi Anemia Complementation Group Q, Xeroderma Pigmentosum Complementation Group F, Progeroid Syndrome, Cockayne Syndrome Type 1	AR	99.68	69 of 72
*ERGIC1*	Arthrogryposis Multiplex Congenita	AR	100	2 of 2
*EXOSC9*	Pontocerebellar Hypoplasia Type 1d	AR	99.86	2 of 2
*FANCA*	Fanconi Anemia	AR	95.17	497 of 502
*FANCB*	Fanconi Anemia Complementation Group B, Vacterl Association With Hydrocephalus	X,XR,G	95.53	NA of NA
*FANCC*	Fanconi Anemia Complementation Group C	AR	100	75 of 75
*FANCD2*	Fanconi Anemia Complementation Group D2	AR	100	62 of 63
*FANCE*	Fanconi Anemia Complementation Group E	AR	97	17 of 18
*FANCF*	Fanconi Anemia Complementation Group F	AR	99.31	17 of 18
*FANCG*	Fanconi Anemia Complementation Group G		100	94 of 94
*FANCI*	Fanconi Anemia Complementation Group I	AR	100	53 of 54
*FANCL*	Fanconi Anemia Complementation Group L	AR	100	25 of 26
*FANCM*	Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	AR	99.73	59 of 61
*FARSB*	Rajab Interstitial Lung Disease With Brain Calcifications	AR	99.94	4 of 4
*FBLN5*	Autosomal Dominant and Recessive Cutis Laxa	AD,AR	97.43	23 of 23
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Lipodystrophy Syndrome, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Shprintzen-Goldberg Syndrome	AD	100	2836 of 2845
*FGF20*	Bilateral Renal Hypodysplasia/Aplasia	AR	99.76	2 of 2
*GATA6*	Atrial Septal Defect, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Pancreatic Agenesis And Congenital Heart Defects, Tetralogy Of Fallot	AD,AR	84.19	66 of 84
*GLI3*	Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-Hall Syndrome, Acrocallosal Syndrome	AD,AR	100	231 of 231
*GMPPB*	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease	AR	99.95	53 of 53
*GNPTAB*	Mucolipidosis II Alpha/Beta, Mucolipidosis III Alpha/Beta	AR	100	279 of 280
*GREB1L*	Bilateral Renal Hypodysplasia/Aplasia	AD	97.94	41 of 41
*HBA1*	Alpha-thalassemia, Heinz Body Anemia, Hemoglobin H Disease, Hb Bart’s Hydrops Fetalis	AD	98.87	125 of 152
*HBA2*	Alpha-thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Hb Bart’s Hydrops Fetalis	AD	74.46	118 of 231
*HNF1B*	Noninsulin-Dependent Diabetes Mellitus, Renal Cysts And Diabetes Syndrome, Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	AD	100	219 of 220
*HSPA9*	Sideroblastic Anemia, Even-Plus Syndrome	AD,AR	99.72	14 of 14
*HYMAI*	Transient Neonatal Diabetes Mellitus, Paternal Uniparental Disomy Of Chromosome	AD	na	na
*INVS*	Nephronophthisis, Senior-Loken Syndrome	AR	99.9	38 of 38
*ITGA8*	Bilateral Renal Hypodysplasia/Aplasia	AR	99.68	7 of 7
*KIF14*	Meckel Syndrome, Autosomal Recessive Primary Microcephaly	AR	99.84	18 of 18
*LARS2*	Hydrops, Lactic Acidosis, And Sideroblastic Anemia, Perrault Syndrome	AR	99.99	20 of 20
*LHX1*	17q12 Microdeletion Syndrome		100	6 of 6
*LIFR*	Stuve-Wiedemann Syndrome	AR	99.81	33 of 33
*MAD2L2*	Fanconi Anemia Complementation Group V	AR	99.91	1 of 1
*MBTPS2*	Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Type XIX, Bresek Syndrome	X,XR,G	100	NA of NA
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MYH3*	Arthrogryposis, Contractures, Pterygia And Spondylocarpostarsal Fusion Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome	AD,AR	100	46 of 47
*NALCN*	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome	AD,AR	99.97	69 of 69
*NEK8*	Nephronophthisi, Renal-Hepatic-Pancreatic Dysplasia	AR	100	24 of 24
*NEK9*	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome	AR	99.98	4 of 4
*NPHP3*	Meckel Syndrome, Nephronophthisis, Renal-Hepatic-Pancreatic Dysplasia , NPHP3-Related Meckel-like Syndrome, Senior-Loken Syndrome	AR	99.99	84 of 84
*OSGEP*	Galloway-Mowat Syndrome	AR	99.17	19 of 19
*PALB2*	Fanconi Anemia Complementation Group N	AD,AR	98.78	601 of 617
*PBX1*	Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	AD	98	18 of 18
*PDSS2*	Coenzyme Q10 Deficiency, Leigh Syndrome With Nephrotic Syndrome	AR	99.99	6 of 6
*PGAP2*	Hyperphosphatasia With Mental Retardation Syndrome	AR	99.99	11 of 11
*PGAP3*	Hyperphosphatasia With Mental Retardation Syndrome	AR	97	19 of 20
*PHOX2B*	Congenital Failure of Autonomic Control, Neuroblastoma With Hirschsprung Disease, Haddad Syndrome, Ondine Syndrome	AD	90.74	58 of 71
*PIGL*	Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia-Intellectual Disability Syndrome	AR	86	11 of 13
*PIGO*	Hyperphosphatasia With Mental Retardation Syndrome	AR	99.93	21 of 21
*PIGV*	Hyperphosphatasia With Mental Retardation	AR	99.99	16 of 16
*PIGW*	Hyperphosphatasia With Mental Retardation Syndrome	AR	99.52	6 of 6
*PIGY*	Hyperphosphatasia With Mental Retardation Syndrome	AR	100	1 of 2
*PKHD1*	Autosomal Recessive Polycystic Kidney Disease	AR	99.97	582 of 585
*PLAGL1*	Paternal Uniparental Disomy Of Chromosome		95.56	2 of 2
*POR*	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis, Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	AD,AR	99.98	67 of 68
*PUF60*	Verheij Syndrome, 8q24.3 Microdeletion Syndrome, Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	AD	100	30 of 30
*RAD51*	Fanconi Anemia Complementation Group R, Familial Congenital Mirror Movements	AD	99.98	16 of 16
*RAD51C*	Fanconi Anemia Complementation Group O	AR	100	130 of 130
*REN*	Familial Juvenile Hyperuricemic Nephropathy, Renal Tubular Dysgenesis	AD,AR	100	23 of 23
*RET*	Congenital Failure of Autonomic Control, Hirschsprung Disease, Haddad Syndrome, Hirschsprung Disease, Bilateral Renal Agenesis	AD	100	453 of 454
*RFWD3*	Fanconi Anemia Complementation Group W	AR	99.99	2 of 2
*RNU4ATAC*	Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome	AR	na	na
*RPGRIP1*	Cone-Rod Dystrophy, Leber Congenital Amaurosis, Meckel Syndrome	AR	99.33	146 of 159
*RPGRIP1L*	Coach Syndrome, Meckel Syndrome, Joubert Syndrome With Renal Defect, Meckel Syndrome	AR	99.96	52 of 52
*SEC24D*	Cole-Carpenter Syndrome	AR	99.97	14 of 14
*SLC25A24*	Fontaine Progeroid Syndrome, Gorlin-Chaudhry-Moss Syndrome	AD	99.59	2 of 2
*SLX4*	Fanconi Anemia Complementation Group P	AR	99.92	76 of 76
*TALDO1*	Transaldolase Deficiency	AR	95	13 of 14
*TBCK*	Infantile Hypotonia With Psychomotor Retardation And Characteristic Facies	AR	99.95	15 of 15
*TCTN2*	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
*TCTN3*	Joubert Syndrome, Orofaciodigital Syndrome IV, Orofaciodigital Syndrome Type VI	AR	99.99	13 of 13
*TMEM107*	Meckel Syndrome, Orofaciodigital Syndrome XVI, Meckel Syndrome	AR	100	3 of 3
*TMEM216*	Meckel Syndrome, Joubert Syndrome With Oculorenal Defect, Orofaciodigital Syndrome Type VI	AR	98.74	8 of 8
*TMEM231*	Meckel Syndrome, Joubert Syndrome With Oculorenal Defect, Orofaciodigital Syndrome Type III	AR	98.63	20 of 21
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93	177 of 179
*TMEM70*	Mitochondrial Complex V (ATP Synthase) Deficiency, TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy	AR	100	22 of 24
*TRIP4*	Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Abnormalities	AR	99.92	3 of 3
*UBE2A*	X-linked Syndromic Mental Retardation	X,XR,G	99.99	NA of NA
*UBE2T*	Fanconi Anemia Complementation Group T	AR	100	4 of 4
*WDPCP*	Bardet-Biedl Syndrome, Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly, Meckel Syndrome	AR	99.3	8 of 8
*WDR73*	Galloway-Mowat Syndrome, Camos Syndrome	AR	95.71	14 of 14
*WNT4*	46,XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs, Mullerian Aplasia And Hyperandrogenism, Serkal Syndrome	AD,AR	100	8 of 8
*XRCC2*	Fanconi Anemia Complementation Group U	AR	98.39	28 of 28

* 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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