NON-INVASIVE PRENATAL DIAGNOSIS (NIPD)
Non-invasive prenatal diagnosis (NIPD) is a method developed for scanning chromosomal abnormalities and single-gene diseases with extracellular foetal DNA. In this method, ‘sample belonging to foetus’ is obtained from maternal blood, not from placenta or amniotic fluid which requires an in-vasive procedure. In 2011, NIPD for chromosomal abnormalities was performed for the first time in USA, West Europe and China.
In NIPD, by obtaining foetus’ DNA by 10cc maternal blood, numeric and structural abnormalities in all chromosomes can be scanned in additon to detection of Trisomia 21 (Down Syndrome), Trisomia 18 (Edwards Syndrome) or Trisomia 13 (Patau Syndrome). In our laboratories, chromosomal abnormalities are examined with number of chromosomes that foetus have and in addition, Rh determination can be made starting from the 6th week of pregnancy.
Whole Genome NIPD for prenatal diagnosis of chromosomal abnormalities represents an advanced scanning instrument and enables detection of clinically important imbalances which can’t be determined by using conventional NIPD test. This scanning level presents a higher accuracy, an importantly higher sensitivity when compared to standard scanning and have a potential to enhance extensive pregnancy management. (Francesco Fiorentino*).
NIPD test is applied starting from the 10th week of pregnancy by considering the following indications:
- Advanced maternal age (> 35 )
- Positive result in maternal serum scanning
- Abnormal ultrasonic findings
- Pregnancy history with aneuploidy
- Translocation carrier parents
- Advanced paternal age (> 40 ) *
- Abnormal ultrasonic findings suggestive of monogenical disorder *
- Single-gene diseases carrier parents *
* NIPT Complete and NIPT Single Gene
In our center, we can help you with 3genTest® which is a reliable scanning method for risk quantification of trisomia at pregnancy. 3genTest® is a genetic test performed starting from the 10th week of pregnancy and studies show that 3genTest® technology is 100% sensitive and it has 99,9% accuracy which means higher sensitivity rates when compared to double and triple scanning tests.
For more info about 3genTest® you can visit www.3gentest.com web site or contact us on info@3gentest.com e-mail address.
You can be referred by your doctor or contact us to have 3genTest®
Our contact numbers : +90 (212) 219 58 36 or +90 (530) 329 04 23
All the NIPD tests made in Nesiller Genetik are listed below:
NESİLLER GENETİK NIPD TESTS
| TEST NAME | ANALYSED AREA | RESULT RETURN |
|---|---|---|
| NIPD 3 | Chromosome 13, 18, 21 | 6 days |
| NIPD 5 | Chromosome 13, 18, 21, X, Y | 6 days |
| NIPD PLUS | Chromosome 9,13,16,18,21,X,Y 6 micro-deletions; 22q11.2 syndrome (DiGeorge syndrome, Velocardialfacial) 1p36 deletion syndrome Angelman syndrome (15q11.2) Prader-Willi syndrome (15q11.2) Cri du Chat syndrome (5p) Wolf-Hirschhorn syndrome (4p) | 6 days |
| NIPD KARYO | Numeric and structural abnormalities in whole chromosomes | 6 days |
| NIPD KARYO PLUS | Numeric and structural abnormalities in whole chromosomes 9 tane mikrodelesyon; 22q11.2 syndrome (DiGeorge syndrome, Velocardialfacial)1p36 deletion syndrome Angelman syndrome (15q11.2) Prader-Willi syndrome (15q11.2) Cri du Chat syndrome (5p) Wolf-Hirschhorn syndrome (4p) Jacobsen syndrome (11q23-q24.3 deletion) Langer-Giedion syndrome (8q24.11-q24.13 deletion) Smith-Magenis syndrome (17p11.2 deletion) | 6 days |
| NIPD Single-Gene De Novo | It scans 44 genetic diseases which shows severe courses and arise out of novo mutations (inhereditary gene mutations) which causes autosomal dominant Mendelian disorders such as; skeletal dysplasia in 25 genes, congenital heart defects, multiple congenital malformation syndromes, autism, epilepsy, neurodevelopmental disorders like mental disabilities, rarely seen Schinzel-Giedion syndrome and Bohring-Opitz syndrome | 15 days |
| NIPD Single-Gene Inherited | ❖ Cystic Fibrosis; Gene CFTR ❖ Autosomal recessive hearing loss- Type1A; Gene CX26 (GJB2) ❖ Autosomal recessive hearing loss - Type1B; Gene CX30 (GJB6) ❖ Beta Thalassemia; Gene HBB ❖ Sickle Cell Anemia; Gene HBB | 15 days |
| NIPD Single-Gene Complete | NIPD Single-gene De Novo + NIPD Single-gene Inherited | 15 days |
| NIPD COMPLETE | NIPD Karyo + NIPD Single-gene Complete | 15 days |
| NIPD COMPLETE PLUS | NIPD KARYO PLUS + NIPD Single-gene Complete | 15 days |
| Chromosome Analysis, Cor (Fetal) Blood, Conventional Cytogenetics, Short-term Cell Culture | 7 days | |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH – Alagille, AG1 (20p12.2) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - Cri-du-Chat, 5p15.2 | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - DiGeorge/VCFS, Tuple1 (22q11.2) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH – Diaphragmatic Hernia, IGF1R (15q26) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH – Kallmann, KAL1 (Xp22.3) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH – Neurofibromatosis, NF1 (17q11.2) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - Prader-Willi/Angelman, SNRPN (15q11.2) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - Smith-Magenis, RAI1 (17p11.2) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH – Sotos, NSD1 (5q35) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - Williams-Beuren, ELN (7q11.23) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - Wolf-Hirschhorn, WHSC (4516.3) | 5 days |
| MOLECULAR CYTOGENETICS | Micro-deletion FISH - X inactivation, XIST (Xq13.2) | 5 days |
| MOLECULAR CYTOGENETICS | Molecular Karyotyping (aCGH - microarray) – single sample* (750k)** | 15 days |
| MOLECULAR GENETICS | SINGLE-GENE DISEASES Note; Please consult us on the single-gene disease. | 15-30 days |
