Mediclinic NIPT Requisition Form
14.02.2023 | PDF | 138.23 KB
If you are interested in the health of your developing baby during pregnancy, this non-invasive prenatal screening test allows you to identify your baby’s risk for genetic conditions using blood taken from the mom, as early as nine weeks into the pregnancy.
Non-invasive prenatal testing (NIPT) is a blood test performed during pregnancy that identifies whether your baby has a higher chance of having certain chromosomal conditions, such as Down syndrome. NIPT can also identify your baby’s sex. With that in mind the guidelines from the American College of Obstetrics and Gynaecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG) recommend NIPT to be made available to all pregnant women, regardless of maternal age or baseline risk.
Mediclinic Precise offers cell-free DNA testing with genetic counselling services. This does not pose a risk to your pregnancy and can be taken as early as 9 weeks into your pregnancy. NIPT are also sometimes used to determine the gender of your baby at an earlier stage than ultrasound. Mediclinic Precise NIPT test screens for all the common trisomies and sex chromosomes (if opted in).
Step 1: Enrolment
As this is a medical test, your Gynaecologist and/or Foetal Medicine Specialist will need to determine the need for the test and provide you with the requisition and consent forms for the test which can be downloaded below. Your doctor will also need to provide some additional clinical information about you that will help with the interpretation of the test results. This includes how far along you are in your pregnancy, are you having a single or multiple pregnancies and any risk factors or family history which is important. They will also explain the test and the limitations and benefits thereof.
Step 2: Kit Delivery and blood sample collection
The collection kit will be available at one of our nearest partner phlebotomy (blood draw) facilities where your appointment will be arranged for a nurse to take your blood. Please make sure that you bring the requisition form and consent form you received at your doctor with you when you go to have your blood sample taken. These must be sent to our partner laboratory for the test to be performed. The blood sample collection is a minor procedure with minimal discomfort.
Step 3: Lab Processing
Our partner laboratory will extract cell-free DNA (cfDNA) from the sample you provide, followed by a quality control process, before detecting genetic informative markers in your DNA. The test is performed on a blood sample from the mother. The mother’s bloods contains cfDNA from both the mother and the foetal placenta. This foetal placenta DNA is identical to the DNA found in the foetus in approximately 98% of pregnancies. The genetic data will be generated and compared to a reference database in order to determine your final results.
Step 4: Report
Your Mediclinic Precise report will be sent to the Medical Practitioner who ordered the test. The results will indicate if your foetus has a ‘low’ or ‘high’ likelihood or risk of one of the chromosome abnormalities tested but it does not confirm that the foetus has that abnormality. Additional diagnostic testing such as invasive chorionic villus sampling or amniocentesis or testing the baby after delivery is recommended for confirmation before an irreversible decision is made. Your Medical Practitioner will discuss the follow-up tests, which may include a referral to a specialist and support from a genetic counsellor.
A Mediclinic Precise product manager can be contacted at firstname.lastname@example.org by your Medical Practitioner to determine the correct NIPT test to order. We can arrange for a genetic counsellor to support you in any decision you need to make based on the genetic results, or to discuss the results with your doctor.
Disclaimer: Mediclinic Precise is an authorized distributor of Natera’s Panorama test in South Africa. The content has not been reviewed by nor endorsed by Natera, Inc. Mediclinic Precise is solely responsible for maintaining the content according to Natera partnership guidelines as well as all legal and regulatory requirements in South Africa. CAP accredited, ISO 13485 and CLIA certified. © 2023 Natera, Inc. All Rights Reserved.
Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome
Babies with trisomy 18 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small head, clubbed feet, underdeveloped fingers, and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3,000 live births.
Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defects involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and/or toes or an opening in the lip, with or without an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5,000 live births.
Babies with monosomy X are biological females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, babies with monosomy X will need extra medical care including hormone therapy at various stages of life
Babies with XXY syndrome have two X chromosomes and one Y chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. People with Klinefelter syndrome might be infertile. About 1 in 500 biological males will be born with Klinefelter syndrome.
Babies with Triple X syndrome have three X chromosomes (XXX). Children with this condition could be taller than average and might experience learning difficulties or behavioral problems. Approximately 1 in 800 biological females will be born with three X chromosomes.
Babies with XYY syndrome have one X chromosome and two Y chromosomes (XYY). Most babies with XYY syndrome do not have any birth defects. Children with XYY could be taller than average and have an increased chance for learning, speech, and behavioral problems. Approximately 1 in 1,000 biological males will be born with one X chromosome and two Y chromosomes.
22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About one in five children with 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome
Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12,000 babies are born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.
1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About one in every 20,000 babies is born with Cri-du-chat syndrome. They may also have heart defects, growth delay, behavior problems and some have curvature of the spine.
Babies with triploidy have a complete extra set of chromosomes for a total of 69 chromosomes instead of the usual 46. At 10 weeks gestation, one in 1,000 pregnancies is affected by triploidy. It is extremely rare for these pregnancies to reach term as they typically spontaneously miscarry early in pregnancy. Those few liveborns usually pass away within days of delivery due to heart, brain, and kidney problems. Babies with triploidy also often have birth defects affecting the extremities and face.
Carrying a baby with triploidy can increase a mother’s risk for a variety of conditions: pre-eclampsia (which can lead to seizures) and excessive bleeding after delivery. In rare instances, triploid pregnancies can persist and progress to a type of cancer called choriocarcinoma. Knowing about triploidy allows the physician to monitor the health of the mother appropriately.
NIPT is a safe, non-invasive way to screen your baby for chromosomal conditions as early as nine weeks into your pregnancy. NIPT provides substantially fewer incorrect results than maternal serum screening.
The Panorama NIPT is the most widely ordered NIPT in the USA. Only a simple blood draw is required. Panorama is the only NIPT that can tell the difference between your DNA and the baby’s DNA, leading to fewer incorrect results and no foetal sex errors in clinical validation studies. Panorama can identify the DNA found in the foetus in approximately 98% of pregnancies.
If you have a twin pregnancy it can distinguish the chromosome abnormalities between each foetus, which will help manage the pregnancy and determine any additional diagnostic tests needed.
The Panorama NIPT tests screen for genetic changes that most often happen by chance. During your pregnancy, your blood contains DNA from both you and your baby’s placenta. Panorama looks at the placental DNA to see if there are signs of certain chromosomal conditions that could affect your baby’s health.
Results are typically available in seven to ten working days (once the sample reaches the laboratory). You will receive a personalised risk report, through your ordering healthcare provider, which indicates if your pregnancy is at high or low risk for the screened conditions.
Panorama is a screening test, which means that this test does not make a final diagnosis. A high-risk result means that your pregnancy has a higher chance of having a specific genetic condition. However, you cannot know for sure if your baby has that condition based on the screening result alone.
If you receive a high-risk Panorama result, speak with your healthcare provider to discuss options around the next steps you could decide to do, such as genetic counselling, detailed ultrasound, and the option of additional diagnostic testing, like a more invasive chorionic villus sampling (CVS) or amniocentesis, or testing the baby after birth.
There is a chance that the sample submitted may not return a result or will return a partial result. However, a repeat sample does not always return a result. This may indicate an unchanged or increased risk for the foetus to have a chromosome abnormality. Your Medical Practitioner will discuss options with you including a comprehensive ultrasound evaluation or another diagnostic testing.
Your personal information shall be treated as confidential and collected, processed, and stored by Mediclinic and our service providers in a manner that ensures appropriate security thereof, including protection against unauthorised or unlawful processing and against accidental loss, destruction or damage, using appropriate technical and organisational measures, which include:
We have put in place procedures to deal with any suspected data security breach and will notify you and any applicable regulator of a suspected breach where we are legally required to do so.
If your doctor determines you are a high-risk pregnancy, then they will request that the medical aid covers the test. The amount that will be covered is dependent on your benefits and the type of medical aid you have. Please contact your medical aid directly to ascertain the specific cover you will receive. Your doctor will assist you with the necessary ICD 10 codes.