Table of contents
Why choose Niptify Focus Plus NIPT?
- Genome-wide screening: Based on whole-genome sequencing (WGS), enabling detection of chromosomal abnormalities across the entire fetal genome - not just targeted regions.
- Focus Plus fetal DNA enrichment: Proprietary technology that enriches fetal DNA fragments, analysing up to 3.6× more fetal-origin DNA than conventional NIPT tests for improved accuracy and reliability.
- Lowest no-call rate available: Only 0.6% of tests require a repeat sample - significantly lower than other NIPTs - reducing delays and stress for families.
- 20+ microdeletion syndromes screened: Detects clinically relevant copy number variations (CNVs) larger than 1 Mb, including DiGeorge syndrome, Cri-du-chat, Prader–Willi/Angelman and many more.
- Mitochondrial DNA mutation screening: The only NIPT that screens for three pharmacogenetic mtDNA mutations linked to hearing loss - helping clinicians avoid triggering medications.
- Safe and simple: Requires only a single tube of maternal blood; no risk to you or your baby.
- Advanced fetal-fraction technology: Focus Plus collects enough fetal DNA to assess directly, rather than relying on comparison with maternal DNA.
- Optional sex determination: Find out your baby's sex with over 99% accuracy, if you wish.
What conditions does Niptify screen for?
Niptify provides the most comprehensive genome-wide prenatal screening available through Jeen, including:
- Common trisomies: Down's syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13)
- Sex chromosome conditions: Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and XYY syndrome
- Rare autosomal trisomies and monosomies: Genome-wide detection of trisomies or monosomies in chromosomes other than 13, 18 and 21
- Segmental aneuploidies: Partial trisomy or monosomy in chromosomes 13, 18 and 21
- DiGeorge syndrome (22q11.2 microdeletion): A commonly occurring condition (approximately 1 in 1,100 to 1 in 1,500 pregnancies) that can cause congenital heart abnormalities and developmental delay. This microdeletion occurs spontaneously and does not correlate with maternal age, making screening relevant for all expectant parents.
- 20 most clinically relevant microdeletion syndromes, including:
- Prader–Willi / Angelman syndrome
- Williams–Beuren syndrome
- 1p36 deletion syndrome
- Cri-du-chat syndrome
- Wolf–Hirschhorn syndrome
- Jacobsen syndrome
- Langer–Giedion syndrome
- Duchenne muscular dystrophy
- Smith–Magenis syndrome
- 15q11-q13 duplication syndrome
- Neurofibromatosis type 1
- Koolen–De Vries syndrome
- Phelan–McDermid syndrome
- Miller–Dieker syndrome
- Pallister–Killian syndrome
- 3q29 deletion syndrome
- 2q31.2 deletion syndrome
- 15q24 deletion syndrome
- 17q12 deletion syndrome
- 7q11.23 duplication syndrome
- Additional genome-wide microdeletions and microduplications: Detection of clinically relevant CNVs larger than 1 Mb across the entire genome
- Mitochondrial DNA mutations: Screening for three specific mtDNA point mutations (1095T>C, 1494C>T and 1555A>G) associated with an increased risk of sensorineural hearing loss. These mutations typically do not cause symptoms at birth but can predispose individuals to hearing impairment, particularly when exposed to aminoglycoside antibiotics. Identifying these variants early allows clinicians to avoid triggering medications and take preventive measures.
- Optional fetal sex determination: Know your baby's sex early in pregnancy, if desired.
Microdeletions are small missing segments of DNA on specific chromosomes. These missing pieces can affect several genes, often leading to developmental delays, learning disabilities, physical differences or medical conditions. Unlike more common conditions like Down's syndrome, microdeletions may not be picked up in standard screening, making early detection with a comprehensive NIPT like Niptify especially valuable.
How does the Niptify Focus Plus test work?
From just a single maternal blood draw at 10 weeks, Niptify can assess your baby's risk for a wide range of chromosomal and genetic conditions. The test uses Focus Plus technology - a proprietary method developed by Celvia CC AS in Estonia - which selectively filters DNA fragments by size, retaining more of the shorter fetal fragments whilst reducing maternal DNA. This enrichment increases the proportion of fetal DNA by roughly 3.6× compared with standard NIPTs.
Advanced AI analysis then distinguishes fetal genetic information from maternal DNA, producing a highly accurate risk assessment for trisomies, microdeletions and mitochondrial mutations. Because Niptify is based on whole-genome sequencing rather than targeted analysis, it can detect abnormalities across the entire fetal genome - including rare conditions that other NIPTs may miss.
Your sample is processed in a CE-IVD certified, ISO 15189 accredited medical laboratory, with results typically available within 5 to 10 working days. Niptify consistently achieves the highest scores in the EMQN international quality assessment programme, giving you confidence in the reliability of your results.
What are the limitations of Niptify?
Niptify screening is not available for:
- Twin or multiple pregnancies
- Patients diagnosed with a malignancy during the current pregnancy
This screening also has these limitations:
- Niptify does not screen for triploidy (a rare condition where the baby has an extra complete set of chromosomes). If triploidy screening is important to you, Panorama NIPT may be a more suitable option.
- NIPT is a screening test, not a diagnostic test. High-risk results should be confirmed by invasive diagnostic procedures such as amniocentesis or CVS.
- NIPT does not detect structural anomalies, such as heart defects or issues with organ development, which are identified through ultrasound scans later in pregnancy.
- Some results may not be covered by the NHS and could require private genetic counselling or follow-up tests.
Who should consider Niptify Focus Plus NIPT?
Niptify Focus Plus is an ideal option for parents who want the most comprehensive genome-wide prenatal screening available. It may be especially suitable if:
- You want the widest possible screening coverage, including microdeletions, rare chromosomal conditions and mitochondrial DNA mutations.
- You are pregnant through IVF - Niptify's Focus Plus technology enables reliable results even when fetal and maternal DNA differ significantly.
- You have a higher BMI - the enriched fetal DNA fraction means Niptify performs reliably in pregnancies where standard NIPTs may struggle with low fetal fraction.
- Your 12-week scan shows increased nuchal translucency or other early concerns.
- You have a family history of rare genetic syndromes, microdeletion conditions or unexplained developmental disorders.
- You want to go beyond common chromosomal screening for Down's, Edwards' and Patau's syndromes.
- You're seeking peace of mind during pregnancy, even with no known risk factors.
Please note: Niptify is validated for singleton pregnancies only and is not available for twin or multiple pregnancies.
What are my blood draw options for Niptify Focus Plus NIPT?
In line with our flexible, prevention-first approach, Jeen Health offers multiple convenient options for how you provide your DNA sample for NIPT:
- Self-Arranged Blood Draw (Free): We'll send your NIPT kit and you can then arrange your own blood draw with a local nurse, midwife, phlebotomy service, or clinic. Many patients ask their private GP, or maternity care provider to assist. Please ensure your provider is comfortable drawing into the NIPT-specific tubes supplied in your kit. If needed, we can share instructions.
- Best if you already have a provider you trust
- No added charge from Jeen, but you may need to pay your chosen provider directly
- Nationwide availability across the UK and some EU region
- Jeen Clinic Network (+£40): Prefer a clinic-based option? Book a blood draw appointment at one of our 40+ trusted partner locations across the UK.
- Home Visit (+£65): Need maximum convenience? We’ll send a qualified nurse to your home to take your blood sample.
- Ideal for patients with mobility, time or privacy needs
- Available across most of the UK and appointments coordinated by our team
These sample collection options ensure NIPT is accessible on your terms.
Disclaimer! The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.
