Genomics Precision Diagnostic > Prenatal > Increased Nuchal Translucency Precision Panel

Increased Nuchal Translucency Precision Panel

Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy.

Overview

Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes.
The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Infertility Precision Panel is indicated for those patients with ultrasound measured increased nuchal translucency (TN>3.5mm) with normal or abnormal karyotype and/or aCGH.

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of associated syndromes of a fetus presenting with increased nuchal translucency.
Reduce burden of parents over prenatally undetectable conditions.
Genetic counselling emphasizing the fact that following detection of isolated enlarged NT, most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcome.
To provide valuable information based on genetic testing combined with fetal ultrasound examination that can influence pregnancy outcome, and provide recurrence risks.

Genes & Diseases

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GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ADARB1*	Neurodevelopmental Disorder With Hypotonia Microcephaly, And Seizures	AR	99.98	NA of NA
*ADM*	Pheochromocytoma, Malignant Hypertension, Congestive Heart Failure, Pulmonary Hypertension, Renal Hypertension	–	99.8	NA of NA
*ATN1*	Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies, Dentatorubral- Pallidoluysian Atrophy Naito-Oyanagi Disease, Haw River Syndrome, Ataxia, Chorea, Seizures, And Dementia Dentatorubral Pallidoluysian Atrophy	AD	99.86	11 of 11
*BAZ1B*	Williams Syndrome	–	99.05	5 of 5
*BMPER*	Diaphanospond- ylodysostosis	AR	99.98	22 of 22
*BUB1*	Mosaic Variegated Aneuploidy Syndrome	AD	99.76	18 of 19
*BUB1B*	Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*BUB3*	Mosaic Variegated Aneuploidy Syndrome	–	99.98	6 of 6
*CEP57*	Mosaic Variegated Aneuploidy Syndrome	AR	99.64	6 of 6
*CLIP2*	Williams Syndrome	–	99.99	1 of 1
*CSGALNACT1*	Mild Skeletal Dysplasia With Joint Laxity And Advanced Bone Age	AR	100	4 of 5
*DHCR7*	Smith-Lemli-Opitz Syndrome	AR	100	217 of 217
*EFNB2*	Craniofrontonasal Syndrome, Congenital Chylothorax, Arteriovenous Malformation	–	98.47	2 of 2
*ELN*	Autosomal Dominant Cutis Laxa, Supravalvular Aortic Stenosis, Williams- Beuren Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Williams Syndrome	AD	99.99	95 of 96
*FGFR3*	Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans, Camptodactyly, Tall Stature, And Hearing Loss Syndrome, Crouzon Syndrome With Acanthosis Nigricans, Hypochondroplasia , Lacrimoauriculodentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia Type I, Thanatophoric Dysplasia Type II, Camptodactyly- Tall Stature-Scoliosis-Hearing Loss, Isolated Brachycephaly, Isolated Plagiocephaly, Muenke Syndrome, Saethre-Chotzen Syndrome	AD,AR	99.89	77 of 78
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Polymicrogyria, Bilateral Temporooccipital, Amyotrophic Lateral Sclerosi, Bilateral Parasagittal Parieto-Occipital Polymicrogyria, Yunis- Varon Syndrome	AD,AR	99.92	72 of 72
*FLT4*	Congenital Heart Defects, Capillary Infantile Hemangioma, Lymphatic Malformation, Milroy Disease, Tetralogy Of Fallot	AD	100	119 of 120
*FOXC2*	Lymphedema-Distichiasis Syndrome	AD	87.59	54 of 95
*GPC6*	Autosomal Recessive Omodysplasia	AR	99.92	3 of 3
*GTF2I*	Williams Syndrome	–	63.79	NA of NA
*GTF2IRD1*	Williams Syndrome	–	99.98	1 of 1
*HDAC8*	Cornelia De Lange Syndrome, Wilson-Turner Syndrome	X,XD,G	99.78	NA of NA
*KMT2A*	Hairy Elbows, Short Stature, Facial Dysmorphism And Developmental Delay, Cornelia De Lange Syndrome, Wiedemann-Steiner Syndrome	AD	98.14	144 of 149
*LIMK1*	Williams Syndrome	–	100	2 of 2
*NF1*	Juvenile Myelomonocytic Leukemia, Neurofibromatosis- Noonan Syndrome, Familial Spinal Neurofibromatosis Type I, Watson Syndrome, 17q11.2 Microduplication Syndrome, Hereditary Pheochromocytoma- Paraganglioma	AD	97.97	3082 of 3166
*NFATC1*	Atrioventricular Septal Defect, Crouzon Syndrome with Acanthosis Nigricans, Autosomal Recessive Osteopetrosis	–	99.83	10 of 11
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NR2F2*	46,XX Sex Reversal, Congenital Heart Defects, Partial Atrioventricular Septal Defect	AD	97.37	16 of 18
*ODC1*	Global Developmental Delay-Alopecia- Macrocephaly-Facial Dysmorphism- Structural Brain Anomalies Syndrome	AD	100	7 of 7
*PDPN*	Lymphangioma, Atypical Neurofibroma		99.91	NA of NA
*PIGN*	Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome, Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome	AR	93.97	36 of 39
*PIK3CA*	Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth, Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi, Cowden Syndrome	AD	99.58	54 of 58
*PROX1*	Lymphangioma, Hereditary Lymphedema, Acquired Hemangioma	–	99.87	NA of NA
*RAD21*	Cornelia De Lange Syndrome, Mungan Syndrome	AD,AR	99.8	16 of 17
*RFC2*	Williams Syndrome	–	100	3 of 3
*SETD5*	Autosomal Dominant Mental Retardation, Cornelia De Lange Syndrome, Intellectual Disability- Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	AD	99.77	37 of 37
*SMC1A*	Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann-Steiner Syndrome	X,XR,XD,G	100	NA of NA
*SMC3*	Cornelia De Lange Syndrome	AD	100	30 of 30
*TBL2*	Williams Syndrome	–	96.14	NA of NA
*TBX1*	Conotruncal Heart Malformations, Truncus Arteriosus Communis, DiGeorge Syndrome, Tetralogy Of Fallot, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome	AD,AR	88.7	35 of 42
*TIE1*	Angiosarcoma, Arteriovenous Malformation, Malignant Renovascular Hypertension	–	99.88	1 of 1
*TRIP13*	Mosaic Variegated Aneuploidy Syndrome, Nephroblastoma	AR	98.14	2 of 2
*VAC14*	Childhood-Onset Striatonigral Degeneration, Yunis-Varon Syndrome	AR	100	11 of 11
*VEGFA*	Poems Syndrome	–	99.53	8 of 8
*VEZF1*	Distal Arthorgryposis Type 3, Distal Arthrogryposis Type 4	–	98.88	NA of NA

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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Increased Nuchal Translucency Precision Panel

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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