The sonographer estimates when your baby is due (the estimated date of delivery, or EDD) based on the baby's measurements. 020 7725 0528 [email protected] Wimpole Street, London Opening Times. An NT Scan will measure this using ultrasound technology when your baby is between 11 and 14 weeks old or measures between 45mm and 84mm. This scan may also be part of a combined screening test for Down’s, Edward’s and Patau’s syndromes. First-trimester screening for Down's syndrome that includes the use of ultrasonography to assess nuchal translucency has become widespread since its introduction by Nicolaides and colleagues in. 1 INTRODUCTION. Submitted a logbook of images of relevant scans. It is not an unusual condition to have clear or fluid space at the back of the baby’s. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. 020 7725 0528 [email protected] Wimpole Street,. Harmony. A total of 139 women with gestational 11-14 weeks whose fetuses were detected with increased NT (NT ≥ 2. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening. The ultrasound itself will take about 20 minutes to perform. The NT scan cannot diagnose whether a baby has Down’s, it only estimates the risk. 4%) women aged 35 years or older at the time of the scan. Prenat Diagn 31 7 15; 13. 2006 Feb 25;332 (7539):452. Login using your FMF account. This may be to confirm the due date where the last menstrual period is unknown, or for reassurance. In addition, various sonographic markers such as nuchal fold thickness and femur length in second trimester were introduced, and the nuchal translucency (NT) became important as the early screening method for chromosomal abnormality (1-3). A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected. Get Directions . free of charge rescans if we can't complete the primary purpose of the scan. FMF. It measures the fluid under the skin at the back of the baby’s neck. fetalmedicine. The incremental cost effectiveness ratio of the integrated test compared with nuchal translucency is £52 000 (276 000−171 000)/2. 2 in the handbook. Excess amounts of fluid, however, indicate the possibility of chromosomal disorders. My nuchal translucency scan report says the fetal right femur length is 4. The Fetal Medicine Foundation (FMF) has introduced a process of comprehensive training, support and audit for the proper implementation of many aspects of Fetal Medicine. Also, in the early 1990s, several papers -most prominently coming from the Fetal Medicine Foundation in London -demonstrated that an enlarged nuchal translucency (NT) measurement combined with. The gestational period must be 11 to 13 weeks and six days. Therefore, in many countries a routine offer of an ultrasound scan at 11–14 weeks has been introduced in addition to a routine offer of a mid-trimester scan. . Any moms over 40 pls read. 01) between 2D and 41-50°. 7%) at the third-trimester scan and in six (2. This type of Gynecology procedure / treatment is very affordable the world over, and particularly in Greater London - this is mostly because the skill set, experience and equipment required by the specialist doesn't need to be especially advanced. The scan is usually performed transabdominally. Per-vaginal bleeding 5. Elsevier: London, pp 123-59. There were 93 atypical chromosome abnormalities. Detect and diagnose major defects. . Advances in Fetal Medicine. 7%) in 2007 and lowest (0. Ultrasound – Measures nuchal translucency thickness at the back of the fetus’s neck. Try not to stress, if you’re really worried you should speak with your doctor. Adequate training of sonographers and the development of technical guidelines have led to. This early increased NT, with NT ≥ 2. ") Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average. Consultation with our Obstetrician £250. 2-3 December 2023, London, UK For more information. All unborn babies have a collection of fluid found under the skin at the back of the baby’s neck. Test. An abnormal result would then require follow up of a diagnostic test such as an amniocentesis or non-invasive prenatal test (NIPT). The prevalence of increased fetal NT (⩾3 mm) was 1. If your scan is done along your abdomen — transabdominally — you will be asked to drink a few. This is a personal decision and one that should be made after collecting the information about what each test does and how it may fit into your decision-making. The NT is still thickened, 4. The nuchal translucency test correctly finds Down syndrome in 64 to 70 out of 100 fetuses who have it. We advise you to book at least 2-3 weeks […]Nuchal translucency must be done between 11 weeks 0 days and 13 weeks 6 days menstrual gestational age. 11-13 week antenatal (nuchal translucency) scan is considered a routine investigation advised for fetal well-being as well as for early screening in pregnancy (see antenatal screening ). Nuchal translucency scan. Amniocentesis is another test that checks for birth defects. It’s usually done between weeks 11 and 14 of. So wherever possible, Victoria will try to arrange for you to have your blood test before. I had the nuchal translucency scan during my 1st trimester and that measured normal. 2017;37:235–243. 000 pregnancies. fetalmedicine. Nuchal translucency Scan is a test used to predict those women who are at high risk of having a baby with chromosomal abnormalities such as Down syndrome, trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). Early structural scan 2. All babies have some fluid, but most babies with Down’s Syndrome have an increased amount. An ultrasound is done when you are 11 ½-14 weeks pregnant. The first-trimester prenatal screening for syndromes and congenital anomalies include; Double-test with blood tests for PAPP-A and beta-hCG in gestational week 8–14, NT-measurement in gestational week 11–14. It can be done earlier in pregnancy than amniocentesis. 11–13 weeks first trimester screen – an ultrasound (also known as a nuchal translucency scan) combined with a blood test (PAPP-A) is recommended. Attendance of the internet based course on preeclampsia screening. Nuchal Translucency Scan. 8in. The Fetal Medicine Foundation, Certificates of Competence. Nuchal (pronounced “NEW-kuhl”) translucency (NT) is an ultrasound that measures the amount of fluid behind your baby’s neck in the first trimester of pregnancy. This test can identify up to 95% of babies with Down syndrome and other abnormalities. The NT scan or 12 week scan is an ultrasound best performed in the first trimester between 11 weeks and 13 weeks 6 days. 94%) than the group with a nuchal translucency of 3. 00. Therefore, a standard technique in measuring NT is extremely important. Nuchal Translucency - Private Ultrasound Clinic Nuchal Translucency Scan Plus Nuchal Translucency Ultrasound Scan + Blood Test Available from 11 – 14 weeks Book. Turnaround time of the harmony test in London is about 3-5 working days in 95% of the cases. A risk-score is calculated based on the values from the double-test and the nuchal translucency and the maternal age. [email protected] mm. Citation, DOI, disclosures and article data. Wimpole Street, London. There were 93 atypical. The 11-13 weeks scan; Preeclampsia screening; Fetal abnormalities; Fetal echocardiography; Doppler ultrasound;. Nuchal translucency. 5 % at a 5 % false-positive rate. nd. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. 4 mm, 4. Login using your FMF account. 2015. The Nuchal translucency (NT) scan, or ‘12-week scan,’ is an ultrasound performed in the first trimester between 11. A nuchal translucency (NT) ultrasound measures the fluid at the back of a baby’s neck between 11 and 14 weeks of pregnancy. The causes of high nuchal translucency have been synthesized into 4 main factors, including: Maternal age: the older a woman is, the more likely the fetus will have high nuchal translucency and along with the risk of birth defects as well as Down syndrome. The latter relies on accurate measurement of the fetal nuchal translucency (NT) thickness and assessment of the nasal bone, which necessitates examination of the mid-sagittal view of the fetal face 4, 5. FAQ164 Prenatal Genetic Diagnostic Tests focuses on these tests. 4997. Nuchal Translucency - Private Ultrasound Clinic Nuchal Translucency Scan Plus Nuchal Translucency Ultrasound Scan + Blood Test Available from 11 – 14 weeks Book Appointment Nuchal Translucency Scan Plus £295 This is the ideal time to date the pregnancy. Methods We searched the databases of King's College Hospital and the Fetal Medicine Centre, London, to January 2005 to identify all cases examined with voluntary cho rionic villous sampling after screening for Down's syn drome by ultrasound examination at 11-13+6 weeks. This is between 12 weeks to 13 weeks 6 days or when your baby’s crown-rump length (CRL) is between 45 and 84mm. The EDD given at this scan is what will be used for the remainder of your pregnancy. The aims of this particular scan are to date the pregnancy accurately, to diagnose multiple pregnancies, to diagnose major fetal abnormalities, to diagnose early miscarriage and to assess the risks of Down's. 0 mm at 13 weeks. At the scan, the fluid at the back of the baby's neck is measured to determine the "nuchal translucency". 4 When a scan shows a nuchal translucency (NT) measurement of 3. Nuchal Translucency) is a exam which consists of a external ultrasound, harmless for the unborn child, with which the thickness of a collection of liquid located under the fetal neck is measured, that is, in practice, the distance between the skin of the nape and the occipital bone of the skull. 858, 0. 9%) patients had normal NT and DV-RAV. 1. It is also called an NT scan or first trimester screening. Nuchal translucency. Submission of 3 images demonstrating color flow mapping and waveforms of the uterine artery at 11-13 weeks. Your sonographer will choose a method based on several considerations, including how far along your pregnancy is and your body shape. The 11-13 weeks scan; Preeclampsia screening; Fetal abnormalities; Fetal echocardiography; Doppler ultrasound; Cervical assessment; Placenta Accreta Spectrum (PAS) Case reports;. During the last decade a strong association between increased nuchal translucency (NT) at ultrasound examination at 11–14 gestational weeks and DS has been established 3, 4. Mon: 08:00 - 20:00: Tue:The amount of fluid is measured during a nuchal translucency (NT) ultrasound scan: between 11 weeks and 14 weeks of pregnancy; or when your baby measures between 45mm (1. Mean arterial pressure; Uterine artery PI; Nuchal translucency; Ductus venosus PIV;. Nuchal translucency scan. 25 For the past 15 years, screening for trisomies 21, 18 and 13 in. Before you venture further into your pregnancy, a counsellor on. This is the measurement behind the neck of your baby. Measuring this thickness helps assess the risk for Down syndrome and other genetic problems in the baby. 11-13 week antenatal (nuchal translucency) scan is considered a routine investigation advised for fetal well-being as well as for early screening in pregnancy (see antenatal screening ). The amount of fluid is measured during a nuchal translucency (NT) ultrasound scan: between 11 weeks and 14 weeks of pregnancy; or when your baby measures between 45mm (1. Methods This observational single-cohort study was. Prenat Diagn. 5‐4. 93%) or a nuchal translucency of <3. Before you arrive for your appointment we strongly encourage you to decide which screening test you would like to use to assess the results of your ultrasound. It is also known as the combined screening test. 5–13. H. Citation 6, Citation 8 The procedure of the NT measurement is the same as that for the measurement of the fetal CRL with an optimal. Most papers investigating this association refer to a NT cut-off value of 3. Nicolaides KH, Azar G, Byrne D, et al. It misses Down syndrome in 30 to 36 out of 100 fetuses. Details What is a nuchal. 5 mm with a 45–84 mm crown-rump length (CRL), as detected by karyotyping or CMA. Non-invasive testing involves an ultrasound scan and blood sample taken from the patient’s arm, and these two options are either NIPT for fetal DNA or else the combined first trimester nuchal translucency scan with another blood test. Fetal nuchal translucency scan in Nigeria. Nuchal Translucency Scan Includes NT measurement, nasal bone and hormone biochemistry blood test (free ß-hCG and PAPP-A). Outcomes for paired variables were compared using t-test and Chi-square test. For the next nine months, your (and your baby’s) health will be monitored closely — and this will. 5 mm) in our hospital from July 2016 to December 2018 were selected. Advances in Fetal Medicine. Test. Although a normal nuchal translucency is reassuring, nuchal translucencyHigh Nuchal Translucency result at 12 week scan! 37 answers / Last post: 06/10/2016 at 7:26 pm. The 11-13 weeks scan; Preeclampsia screening; Fetal abnormalities; Fetal echocardiography; Doppler ultrasound;. Nuchal Translucency (NT) In the first trimester, the nuchal translucency (NT), instead of the nuchal fold, is used due to its sonographic appearance. Nuchal translucency (NT). The Fetal Medicine Foundation. It includes multiple components and is highly dependent on the operator. Tests should be arranged a couple of weeks in advance to allow time to coordinate the blood test and ultrasound. Why the Test is Performed. The result is available 10 to 12 working days. Nuchal Translucency Scan Includes NT measurement, nasal bone and hormone biochemistry blood test (free ß-hCG and PAPP-A) Read More. The nuchal (say "NEW-kuhl") translucency screening is a test done during pregnancy. fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A. 5millimetres or more Information for parents Definitions Nuchal translucency (NT) scan You will have an NT scan when you are. My husband and I met with a genetic counselor. A nuchal translucency scan (also called an NT or nuchal scan) uses ultrasound to assess your baby’s risk of having Down syndrome and some other chromosomal abnormalities, as well as major congenital heart problems. 5‐3. why and when. Common indications: 1. However, despite significant efforts to examine the mid-sagittal plane of the fetal face to determine the. At King's College Hospital and the Fetal Medicine Centre, London, chorionic villous sampling for fetal karyotyping is done at the parents' request after screening for Down's syndrome by ultrasound examination with or without maternal serum biochemistry at 11-13 +6 weeks, at which the fetal crown-rump length and NT are. Your provider may advise this test to screen your baby for Down syndrome. With the help of the NT scan report normal, the doctor can see the size of the clear tissue. If your scan is done along your abdomen — transabdominally — you will be asked to drink a few. Which is extremely high! Everything else during the scan was normal. 7 mm at 10 weeks’ gestation to 1. Elsevier: London, pp 123-59. The blood test should. Nuchal Translucency Scan – 12 weeks. Done at 11-14 weeks. Wimpole Street, London. Submission of a logbook of 3 images showing correct assessment of the nasal bone. The blood test can be carried out at the same time as the 12-week scan. You can use the account you use for licensing purposes and attend the FMF courses with. Introduction. A fetal NT > 99th percentile is by definition found in about 1 % of pregnancies []. Through this scan, we measure the size of the foetus and accordingly calculate the expected date of delivery. Nuchal translucency (NT) measurement has been shown to be increased in fetuses with common chromosomal abnormalities (trisomies 21, 18 and 13 and monosomy X) and structural abnormalities, particularly cardiac defects, and single-gene disorders. 1, 4 Other countries utilize cutoff values equal to or higher. Telephone: 00 44 (0)207 034 3070 General enquiries fmf@fetalmedicine. FASP. On this basis, pregnancy presenting. Ramai yang sudah maklum bahawa scan ini bertujuan untuk mengesan kebarangkalian bayi mengalami Down’s Syndrome. 20% per week 2 , 3 . 437 + (0. The RANZCR provides a credentialling program for providers of nuchal translucency scans. Mean arterial pressure; Uterine artery PI; Nuchal translucency; Ductus venosus PIV; Serum sFLT-1; Serum PLGF;. Normal babies accumulate fluid under the skin behind the head and neck between 9 and 14 weeks of pregnancy, however, excess fluid has been associated with chromosome abnormalities such as Down syndrome. 5 millimetres, detailed fetal echocardiography is scheduled instead for 20 weeks. In cases with early increased NT 2. Fetal nuchal translucency scan in Nigeria. Nuchal translucency scan. This is sometimes called a nuchal translucency scan. This measurement is combined with other information to estimate the risk of Down syndrome. Nuchal translucency scan. 5 millimetres and 3. FMF. It’s highly accurate at detecting conditions when combined with other first-trimester screenings. It was during a pregnancy four years ago that I became aware of nuchal translucency. 4997 [Web of. Traditionally three factors are used to calculate the risk of trisomies: crown. This is an area of tissue at the back of an unborn baby’s neck. 5 mm warrants referral to a Fetal Medicine Unit for an extensive work‐up. The nuchal translucency test is a screening test. Submitted a logbook of images of relevant scans. The measurement of fetal NT thickness at the 11-14-week scan has been combined with maternal age to provide an effective method of screening for trisomy 21; for an invasive testing rate of 5%, about 75% of trisomic pregnancies can be. or when your baby measures between 45mm and 84mm, crown to rump. Nuchal translucency measurement technique. An association between increased nuchal translucency thickness (NT) and Down syndrome was reported more than 20 years ago 1. footnote 1; It's possible that a screening test will show that the baby has an increased chance of having a problem when he or she doesn't have the problem. The dating scan can include a nuchal translucency (NT) scan. During a scan I became aware that the ultrasonographer was spending a lot of time viewing round the back of the baby’s head. It’s usually done between weeks 11 and 14 of. Usually, the results of the nuchal translucency test will help the doctor diagnose a 75% chance of having a baby with Down syndrome. I’d like to hear your honest stories. Screening for 11 physical conditions as part of the 20-week scan is offered to all pregnant women and takes place between 18⁺⁰ and 20⁺⁶ weeks of pregnancy. There is no risk to the pregnancy because it is done through blood work. Nuchal translucency (NT) is a collection of fluid under the skin at the back of your baby's neck. 0 to 3. However, the scan can help a woman decide whether or not to have a diagnostic test. Get. Nuchal translucency; Ductus venosus PIV; Serum sFLT-1; Serum PLGF;. The nuchal translucency test correctly finds Down syndrome in 64 to 70 out of 100 fetuses who have it. You can have the Nuchal Translucency Scan from 11 weeks 3 days to 13 weeks 6 days of pregnancy. 5 millimetres, therefore between 11 and 14 weeks of gestation. The Birth Company Ground Floor 32 Wimpole Street London W1G 8GT. 1. 5 mm) in our hospital from July 2016 to December 2018 were. Essentially, this measurement is used to assess baby’s chances of having genetic or chromosomal abnormalities, such as trisomy. With respect to frequencies of repeat per year, it was highest (26. Assessment: Nuchal translucency; Performance audits. Non-invasive Prenatal Testing (NIPT) is the most accurate prenatal genetic screening test and may be OHIP-funded or private-pay depending on your situation. The Birth Company Ground Floor 32 Wimpole Street London W1G 8GT. In early pregnancy, ultrasounds such as the nuchal translucency scan can be done through your abdomen or vagina. Abnormal NT / Fluid. King's College Hospital and Department of Fetal Medicine, University College, London, UK. September 14, 2023 | by Jackie787. NT of infants was measured at a CRL of 45–84 mm, and gestational age was determined using CRL during the 11–14-week scan. ( “Informa”) whose registered office is 5 Howick Place, London SW1P 1WG. The measurement of fetal NT thickness at the 11–14-week scan has been co. (12. The 11-13 weeks scan; Preeclampsia screening; Fetal abnormalities; Fetal echocardiography; Doppler ultrasound;. 5 % at a 5 % false-positive rate. Therefore, the nuchal translucency measurement may have multiple ways of expression. Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of fluid behind the fetal neck. Prenatal diagnostic tests: These tests can tell you whether your fetus actually has certain disorders. It is not as accurate as the. 8–9 weeks dating scan – some women choose to have an early ultrasound around 8-9 weeks. Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of fluid behind the fetal neck. INTRODUCTION. The nuchal translucency measurement can be obtained using transabdominal US in about 95% of patients [5,17,22,23]. Sagittal section of the uterus must be obtained and the cervical canal and internal cervical os. If your child’s NT is a bit higher or lower than the predicted value, that’s okay. The nuchal translucency measurement is a test to assess the risk of chromosomal abnormality, in particular of trisomy 21. Regular prenatal visits and creating an awareness regarding the importance of prenatal tests among the parents are important. The amount of fluid is measured during a nuchal translucency (NT). Prenat Diagn. For instructions on how the excel file should be formatted, please click here . 4997 [Web of. It is not as accurate as the combined test. A nuchal translucency scan is combined with the mother’s age and results of a blood test showing the mother’s pregnancy hormone levels to provide a ‘combined risk’. to assess the flow of blood across the tricuspid valve of the fetal heart and the ductus venosus. nd. Nearest Underground Tube Stations. Among the 139 samples, 45 were abnormal with CNVs (32. This scan is combined with a blood test that looks at two specific hormones of pregnancy: the free-Beta hCG and PAPP-A (pregnancy associated plasma protein A). FMF. 5 mm (group A), NT ≥95th percentile (group B), NT ≥99th percentile (group C), NT. Nuchal translucency test. The nuchal translucency scan, also known as a NT scan, is an ultrasound used to screen for Down's syndrome. The prevalence of increased fetal NT (⩾3 mm) was 1. Nuchal Translucency Scan. Our policy is to scan the fetus at the time of detection of a nuchal translucency above 3. The nuchal translucency test is a screening test. The nuchal translucency measurement is a test to assess the risk of. Trisomy 21:. Without the blood test, screening is 75% accurate for predicting Down syndrome. We use ultrasound as a way to measure the size of the nuchal fold. The amount of fluid is measured during an NT ultrasound scan: between 11 weeks and 13 weeks plus six days of pregnancy. A nuchal scan, or nuchal translucency (NT) scan, is often used as a screening test mainly for Down’s syndrome, as well as Edward’s and Patau’s syndromes and a number of major foetal abnormalities. Fetal nuchal translucency: ultrasound screening for chromosomal defects in the first trimester of. The early detection thus prevents various health conditions in the fetus. 5mm. Traditionally three factors are used to calculate the risk of trisomies: crown. Major heart defects. A risk-score is calculated based on the values from the double-test and the nuchal translucency and the maternal age. London W1G 8GT. Both screening and diagnostic testing are offered to. 37%). To assess the quality of your measurements you need to upload an excel file providing data for each patient. Nuchal Translucency (NT) is a fluid-filled region under the skin of posterior neck of fetus. The Fetal Medicine Foundation (FMF) is a Registered Charity that aims to improve the health of pregnant women and their babies through research and training in fetal medicine. The nuchal translucency is the fluid-filled space at the back of your baby’s neck (the nuchal fold). nd. 8–9 weeks dating scan – some women choose to have an early ultrasound around 8-9 weeks. Purpose To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) > 95th percentile. mkpe abbey. Women's Health Dulwich aims to enable prospective mothers to have a positive and reassuring pregnancy experience. The 11-13 weeks scan; Preeclampsia screening;. International surveys have shown that patients with low risks of aneuploidy have a better pregnancy outcome than expected. org [Accessed June 2021] Gil MM, Accurti V, Santacruz B,. Some people opt to have prenatal screening tests, while others do not. FMF certification in measurement of nuchal translucency. Scans can be completed up to 23⁺⁰ weeks of pregnancy. A nuchal scan or nuchal translucency scan/procedure is a sonographic prenatal screening scan to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected. 3. The nuchal translucency test measures the nuchal fold thickness. It's called the combined test because it combines an ultrasound scan with a blood test. 020 7725 0528 [email protected] Wimpole Street, London Opening Times. My annual deductible is $3,000, but unfortunately resets January 1st. Screening protocols which use NT together with maternal serum markers at 10–13 weeks can achieve a much better screening performance than do second-trimester serum-only. FIGURE 1 (A) A normal nuchal translucency (NT) measurement in a fetus at 13 weeks 0 days gestation. In IVF or FET Pregnancy. The normal range of NT for this age is 1. The 11-13 weeks scan; Preeclampsia screening; Fetal abnormalities. Combined screening for Down's syndrome & other chromosomal abnormalities: nuchal translucency scan & blood test (being told something may be wrong) Some women were told their nuchal scan results showed they had an increased chance (higher risk) of something being wrong with the baby (see also ' Deciding whether to have further. 0%. Key recent publications; Research publications; Randomized trials. 1 in the handbook overview), trisomy 18 (T18) (see section 4. Fetal nuchal translucency screening identifies 75 to 80% of fetuses with trisomy 21 at a false positive rate of 5%. [1] In addition, various sonographic markers such as nuchal fold thickness and femur length in second trimester were introduced, and the nuchal translucency (NT) became important as the early screening method for chromosomal abnormality (1-3). An NT scan, or nuchal translucency scan, is a non-invasive ultrasound screening for Down syndrome and other genetic conditions during pregnancy. The endocervical mucosa will give an accurate definition of the amount of funnelling . A small. 3. Detecting open spina bifida at the 11-13-week scan by assessing intracranial translucency and the posterior brain region: Mid-sagittal or axial plane? Ultrasound Obstet. This is also called the nuchal translucency and is located at the back of the neck of the baby. nd. 5 mm detected at first-trimester ultrasound screening is associated with fetal chromosomal abnormalities, structural anomalies (such as congenital heart malformations), and a wide range of genetic disorders. Trisomy 21 was diagnosed in 31 cases. The quadruple test is a blood test that screens for Down’s syndrome. Regular prenatal visits and creating an awareness regarding the importance of prenatal tests among the parents are important. The amount of fluid is measured during a nuchal translucency (NT) ultrasound scan: between 11 weeks and 14 weeks of pregnancy; or when your baby measures between 45mm (1. b) Fetal neck is not hyper flexed. R. This time window in the pregnancy is a little too early to do the anatomical survey, but it is a good time to do not only nuchal translucency, but also date the pregnancy. The Fetal Medicine Foundation (FMF) established the strict guideline for NT measurement. If you choose to have the test, you will have a blood sample taken. The nuchal fold test does not routinely/invariably include a blood test. Copy number variation sequencing (CNV-seq) technique was used to analyze the genetic etiology of fetuses with increased nuchal translucency (NT). After exclusion of three cases with obvious first-trimester anomalies and two with incomplete outcome data, 42 remained for analysis. Between 11 and 14 weeks of pregnancy is the exact timeline for a scheduled nuchal translucency scan since this time period corresponds to the time when the base of the baby’s neck is transparent.