Non-Invasive Prenatal Diagnosis (NIPD) utilises advanced DNA testing to analyse the baby’s genetic material during pregnancy, offering crucial insights into chromosomal conditions, genetic disorders, and foetal sex determination. This revolutionary blood test eliminates the risks associated with traditional invasive procedures like amniocentesis or CVS.
Non-Invasive Prenatal Diagnosis (NIPD) uses a simple blood test to analyse your baby’s DNA. The test examines DNA fragments that naturally circulate in your bloodstream during pregnancy. Sometimes, we may also need blood samples from your partner and children. Unlike invasive tests like amniocentesis, NIPD has no procedure-related risk of miscarriage for you or your baby. This test can confirm specific genetic conditions like achondroplasia or haemophilia. It can also determine your baby’s sex when sex-linked disorders are a concern.
NIPD is a bespoke approach for individuals who are known carriers of a genetic condition, or have had a previous child with a genetic condition.
While NIPD is a revolutionary tool, it isn’t suitable for all cases. It is limited to detecting specific genetic conditions in the fetus where one or both parents carry a genetic condition, or have had a previous child affected with a genetic condition.
In contrast, Non-Invasive Prenatal Testing (NIPT) is a broader screening tool that evaluates the risk of chromosomal abnormalities like Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13).
At London Pregnancy Clinic, Non-Invasive Prenatal Diagnosis (NIPD) is offered as a safe and accurate option for diagnosing specific genetic conditions in a developing baby. This advanced test is only available following a consultation with Jeen Health‘s experienced genetic counsellor, who will carefully assess the suitability of your case.
During the consultation, the genetic counsellor will review your medical history, discuss the genetic condition of concern, and evaluate whether NIPD is an appropriate diagnostic option for you and your baby. This personalised approach ensures that the test is tailored to your specific needs and circumstances.
NIPD can only be performed for certain conditions and under specific circumstances, such as when there is a known risk of a genetic disorder in the family or a need to confirm a condition diagnosed in a previous pregnancy.
It is particularly useful for detecting single-gene disorders, such as cystic fibrosis or achondroplasia, or for determining the baby’s sex in pregnancies at risk of sex-linked conditions like Duchenne muscular dystrophy.
As the availability of NIPD depends on the type of genetic condition being tested and the presence of sufficient fetal DNA in the mother’s blood, it is not a universal diagnostic tool. However, when suitable, NIPD provides parents with definitive answers early in pregnancy without the risks associated with invasive procedures like amniocentesis.
Non-Invasive Prenatal Testing (NIPT) and Non-Invasive Prenatal Diagnosis (NIPD) serve different purposes, which is why NIPT remains widely used even when NIPD is available. NIPT is a screening test that assesses the risk of chromosomal conditions such as Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13).
It is suitable for the general population, including pregnancies with no known risks, providing a reliable and non-invasive way to evaluate the likelihood of these conditions. NIPD, on the other hand, is a diagnostic test used to confirm specific genetic conditions when there is a known family history or identified risk, making it less broadly applicable.
While NIPD delivers a definitive diagnosis for certain conditions, it is limited to specific genetic disorders where the variants being tested are already known. In contrast, NIPT screens for common chromosomal abnormalities, offering reassurance to a wider range of expectant parents.
Additionally, NIPT is often used as a first step, with diagnostic options like NIPD or invasive tests considered if NIPT indicates a high risk. This distinction in scope and purpose makes NIPT an essential tool in prenatal care, complementing more targeted tests like NIPD. NIPD is a highly specialised test. Only a few laboratories offer it, which makes it more expensive.
Private NIPD typically costs between £2,000 and £8,000, depending on the condition and the laboratory.
Non-Invasive Prenatal Diagnosis (NIPD) is a relatively novel clinical technology, offering a safe and precise method to diagnose certain genetic conditions in pregnancy. However, as this cutting-edge approach is still evolving, it is currently only available for a limited number of specific conditions.
At London Pregnancy Clinic, we are committed to staying at the forefront of NIPD advancements by continuously monitoring developments in the field. We collaborate with leading laboratories across the UK to provide our patients with access to the most accurate and reliable testing available.
By combining expert genetic counselling with state-of-the-art diagnostics, we ensure that our patients receive the highest standard of care and support.
Below is a list of conditions we could support with NIPD. This is a non-exclusive list, NIPD is an extremely complex test and requires input from our genetic counsellors to evaluate the suitability of each individual case for the tests that are on offer. This involves collecting family history and communicating with the labs about the requirements for each test.
Please book a consultation with our genetic counsellor (£80) to get an evaluation of your case. Please note, we cannot guarantee NIPD would be suitable for your case. Private NIPD typically costs between £2,000 and £8,000 (lab fees + genetic counsellor consultations), depending on the specific condition being tested.
For each of the conditions below, we identify a known familial variant in the baby’s DNA to clarify the chance that the baby is affected. A haplotype test aims to diagnose whether the baby has inherited the condition; a variant test determines whether a specific parental variant has been passed on. NIPD does not look for new, previously unknown variants.
Specialised genetic test used to determine whether a developing baby has inherited specific genetic markers, or haplotypes, linked to cystic fibrosis (CF). This test analyses the DNA from both parents and the baby to assess the likelihood of the baby being affected by CF, particularly when the parents carry different variants of the CFTR gene.
Genetic test designed to detect whether a known familial variant in the CFTR gene that cause cystic fibrosis (CF). This testing typically screens for a panel of common CFTR gene variants, helping to determine if an individual is a carrier or if a baby is at risk of inheriting the condition. Variant testing is crucial for diagnosing CF, especially in families with a known history of the disorder, and enables targeted and personalised care for affected individuals.
Spinal Muscular Atrophy (SMA) Variant Testing is a genetic test used to identify variants in the SMN1 gene that cause SMA, a serious inherited neuromuscular condition. This test determines whether an individual is a carrier of the condition or if a baby is at risk of inheriting it. By analysing specific variants in the SMN1 gene, variant testing provides critical information for early diagnosis, family planning, and tailored medical care, particularly in families with a history of SMA.
Duchenne and Becker Muscular Dystrophy Variant Testing is a genetic test that detects whether a known familial variant in the DMD gene, which are responsible for these progressive muscle-wasting conditions. The test helps determine if an individual is a carrier or if a baby is at risk of inheriting the disorder, particularly in families with a history of muscular dystrophy.
Monogenic diabetes, subtype glucokinase (GCK-MODY), is a rare form of diabetes caused by variants in the GCK gene, which regulates blood glucose levels. Unlike type 1 or type 2 diabetes, GCK-MODY typically results in mild, stable hyperglycaemia from birth that often does not require insulin treatment. This condition is inherited in an autosomal dominant pattern, meaning it can be passed from one affected parent to their child.
Apert Syndrome Variant Testing is a genetic test that detects whether a known familial variant in the FGFR2 gene, which cause Apert syndrome, a rare condition characterised by abnormal skull, face, and limb development. This test is particularly useful for diagnosing the condition early, especially when there is a family history or clinical suspicion of Apert syndrome.
Crouzon Syndrome with Acanthosis Nigricans Variant Testing is a genetic test used to detect specific variants in the FGFR3 gene, which cause this rare condition characterised by craniofacial abnormalities and areas of dark, thickened skin (acanthosis nigricans). This testing is essential for confirming a diagnosis, particularly in cases with clinical suspicion or a family history of the syndrome.
Congenital Adrenal Hyperplasia (CAH) CYP21A2 Haplotype Testing is a specialised genetic test that examines the CYP21A2 gene to identify specific haplotypes linked to CAH, a condition affecting adrenal gland function. This testing is particularly important for diagnosing and managing CAH, as it determines the genetic variations responsible for disrupted hormone production.
Retinoblastoma Haplotype Testing is a genetic test used to identify specific haplotypes in the RB1 gene, which are linked to retinoblastoma, a rare childhood eye cancer. This test is particularly valuable for families with a history of retinoblastoma, as it helps determine whether a child has inherited the genetic variant associated with the condition.
Fetal sexing by free fetal DNA (ffDNA) analysis is a non-invasive test used in pregnancies at risk of X-linked disorders, sex-limited conditions, or congenital adrenal hyperplasia. The test analyses ffDNA from maternal blood to detect Y chromosome-specific sequences, with the presence of SRY indicating a male fetus and its absence suggesting a female fetus. For samples taken before 9 weeks of pregnancy, we recommend repeating the test after one week. This reduces the risk of false negatives due to low fetal DNA levels.
Sickle cell disease variant testing determines whether a known familial variant in the HBB gene has been passed from the parents to the baby, to clarify the chance that the baby is affected. Sickle cell is an inherited blood disorder, and testing is arranged where both parents’ variants are known.
For a rare inherited condition not listed here, we can set up a bespoke NIPD test where identifying the father’s variant in the pregnancy would be informative. This is applicable for both recessive and dominant conditions. Enquire with us if you are interested and our genetic counsellors will assess whether a bespoke test is possible for your situation.
Non-Invasive Prenatal Diagnosis (NIPD) is an advanced genetic testing method that analyses cell-free fetal DNA (cffDNA) in the mother’s blood to diagnose specific genetic conditions in the baby. Unlike invasive procedures such as amniocentesis or chorionic villus sampling (CVS), NIPD has no procedure-related risk of miscarriage for the mother or baby. It is used for diagnosing certain single-gene disorders, such as cystic fibrosis or achondroplasia, and sex-linked conditions, like Duchenne muscular dystrophy. This makes NIPD a safe, accurate, and early option for families with specific genetic concerns.
NIPD is not a screening test but a diagnostic one, meaning it provides a definitive answer for specific conditions. However, it is only available in cases where there is a clear indication, such as a known family history or carrier status. This makes it a more targeted test compared to screening options like NIPT, which evaluates broader risks of chromosomal abnormalities.
NIPD and Non-Invasive Prenatal Testing (NIPT) both analyse cell-free fetal DNA from maternal blood but serve different purposes. NIPT is a screening test that assesses the risk of common chromosomal abnormalities, such as Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), and Patau’s syndrome (trisomy 13). It provides a risk estimate and may require follow-up diagnostic tests if a high risk is identified. NIPD, on the other hand, is a diagnostic test that confirms specific genetic conditions with high accuracy.
While NIPT is available to all pregnant women as a general screening tool, NIPD is only offered in specific cases, such as when there is a known risk of a genetic disorder. NIPD provides a definitive diagnosis, whereas NIPT is a first step in evaluating potential chromosomal issues.
NIPD is not suitable for all pregnancies because it can only diagnose specific genetic conditions where the associated mutations are well-defined and detectable in cffDNA. It is most effective when there is a known family history or a high risk of passing on a specific disorder, such as cystic fibrosis or achondroplasia. In contrast, NIPT can screen for a wider range of conditions but does not provide a conclusive diagnosis.
Additionally, NIPD requires sufficient fetal DNA in the mother’s bloodstream, which may not always be available in early pregnancy or in cases of multiple pregnancies. For pregnancies where NIPD is not suitable, alternatives like amniocentesis or CVS may be recommended, as these methods provide a broader diagnostic capability.
Unlike amniocentesis and CVS, which are invasive tests requiring a needle to collect samples of amniotic fluid or placental tissue, NIPD is completely non-invasive and carries no procedure-related risk of miscarriage. Amniocentesis and CVS are capable of diagnosing a wider range of genetic and chromosomal conditions, making them suitable for cases where NIPD is not applicable.
However, NIPD offers the advantage of earlier testing and results, often as early as 9-10 weeks of pregnancy. It is a preferred option for families who meet the criteria, as it avoids the physical risks associated with invasive testing while still providing a conclusive diagnosis for specific conditions.
NIPD is used to diagnose specific genetic conditions, including single-gene disorders such as cystic fibrosis, achondroplasia, and beta-thalassaemia. It is also effective for sex-linked conditions, such as Duchenne muscular dystrophy, and for determining fetal sex in cases where this information is crucial for diagnosing conditions like congenital adrenal hyperplasia.
The applicability of NIPD depends on the genetic condition being tested and the availability of validated testing protocols for that disorder. As the technology evolves, the range of conditions detectable through NIPD is expected to expand.
While NIPD is a safe and accurate diagnostic tool, it has limitations. It is only applicable for certain conditions where the genetic mutations are well-characterised and detectable through cffDNA. It cannot screen for broader chromosomal abnormalities like Down’s syndrome or conditions where the specific mutations are not yet identified.
Additionally, NIPD may not be suitable for pregnancies with low levels of fetal DNA, such as in early gestation or cases of maternal obesity. Multiple pregnancies or vanishing twin scenarios can also complicate the analysis, limiting the effectiveness of the test.
NIPD includes various types of testing depending on the condition being diagnosed. Single-gene testing focuses on identifying variants linked to specific disorders, such as cystic fibrosis or achondroplasia. Sex-linked testing determines the fetal sex in cases where this is critical for diagnosing conditions like Duchenne muscular dystrophy or congenital adrenal hyperplasia.
Other applications of NIPD include testing for Rhesus D status to manage pregnancies at risk of haemolytic disease and testing for structural disorders when a family history is present. Each type of NIPD testing is tailored to the individual case, ensuring precise and reliable results.
We can also arrange bespoke NIPD for a rare inherited condition not on our standard list, where identifying the father’s variant in the pregnancy would be informative — applicable for both recessive and dominant conditions. Please contact us to discuss whether a bespoke test is possible in your situation.
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The figures and clinical statements on this page are drawn from the sources below. Guidance evolves — always discuss your individual circumstances with a clinician.
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