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Non- Invasive Prenatal Testing
Blood Tests

At Baby Bump, we offer two different type of NIPT Testing:​

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NIPT Standard - This is testing for Trisomy 21, 18 and 13.

NIPT Advanced - Trisomy 21, 18 and 13 & Sex chromosome aneuploidies

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Non-invasive prenatal testing (NIPT analyses cell-free DNA circulating in the pregnant mother’s blood. It is a new option in prenatal screening for Down syndrome (trisomy 21), Edward Syndrome (trisomy 18), Patau Syndrome (Trisomy 13), optional gender detection (X and Y chromosome) and sex chromosome anomalies.​​

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Key Features

  • ​​Safe and simple, single blood draw. >99% accuracy.

  • Optional gender detection.

  • As early as week 10.

  • Sex chromosome aneuploidies

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What is Trisomy?

Normally, all cells in the human body have 46 chromosomes, made up of 23 pairs of chromosomes. These 23 pairs of chromosomes contain all of the DNA to determine the health of the baby. Certain genetic anomalies can occur when a baby develops three copies of a particular chromosome instead of two. The risk of having a chromosomal condition increases as the mother gets older

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What is Trisomy 18?

Trisomy 18 is a condition that is caused by an extra chromosome number 18 (three copies instead of two). Individuals with trisomy 18 have severe intellectual disability and abnormalities involving multiple organs. Some of the common features of trisomy 18 include heart defects, brain abnormalities, musculoskeletal problems, cleft lip and palate, clenched hand, and low birth weight. Trisomy 18 occurs in 1 in 6000 to 8000 live births.

 

What is Trisomy 13?

Non-Invasive Prenatal Testing (NIPT) Trisomy 13 is a condition that is caused by an extra chromosome number 13 (three copies instead of two). Individuals with trisomy 13 have severe intellectual disability and abnormalities involving multiple organs. Some of the common features of trisomy 13 include heart defects, omphalocele, brain abnormalities such as holoprosencephaly, cleft lip and palate, and other features. Trisomy 13 occurs in approximately 1 in 12,000 live births

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​What is Trisomy 21?

Trisomy 21 is a condition that is caused by an extra chromosome number 21 (three copies instead of two). Individuals with trisomy 21 have variable physical features and intellectual disability. Some common features of trisomy 21 include heart defects, duodenal atresia, low muscle tone, and differences in facial features. Some of these structural findings may be identified in second trimester ultrasound evaluation. Trisomy 21 is the most common chromosome anomaly, occurring in 1 in 700 to 800 live births

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What are Sex Chromosome Aneuploidies?

Sex chromosome anomalies (SCA) occur when there is a missing, extra or partial/incomplete sex chromosome (X or Y).

 

The Concepto-NIPT looks for SCAs such as:

  • X(O) - Turners Syndrome A condition affecting females, due to partially or completely missing sex chromosome. Most of them can lead a normal life with regular medical care.

  • XXY - Klinefelter's syndrome is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles.

  • XYY- Jacob's syndrome is a genetic condition having an extra copy of the Y chromosome in each of a male's cells, the chromosomal change sometimes causes no unusual physical features.

  • XXX- Triple X syndrome A genetic disorder characterized by the presence of an additional X chromosome in female children. They are often taller than average girls

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Is it safe for mother and child?

It involves a simple and safe blood draw from the arm of the expectant mother. Being non-invasive, it is completely safe for mother and baby.

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Why not just stick with the NHS Screening?

The NHS provides combined screening to detect the risk of chromosomal abnormalities, but there are concerns over the accuracy and false positive rate:

  • Accuracy is 85% for First Trimester Screening and 80% for the Quadruple Screening Test.

  • There is a 5% false positive rate leading to invasive further diagnostic testing (amniocentesis or CVS), which involves a risk to the pregnancy.

  • NIPT is only offered for high-risk pregnancies identified by First Trimester screening or the Quadruple test.

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How accurate is it?

>99.9% detection rate for Aneuploidies.

NIPT provides fewer false-positive negative results than combined First-Trimester screening for Trisomy 21, 18 & 13 . It is important to note that NIPT Screening test does not provide a definitive genetic diagnosis, as NIPT cannot differnitate potential chromosome differences between the Placenta and Fetus. A definitive genetic diagnosis of the fetus requires invasive techniques such as chronic villus sampling (CVS). 

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If you have any questions, please send the team a message on info@babybumpuk.co.uk and we will get back to you as soon as possible. 

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You can book your appointment on our website :)

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