negative nipt with soft markers
My FISH results came back negative! The following two strategies were included: (I) NIPT screening in which the mothers were first screened with NIPT, and those with high-risk NIPT screening results underwent genetic counseling and concurrent amniocentesis; (II) serological screening, in which the mothers were first screened serologically, and those at high risk for aneuploidy When I was 21 weeks, I had an anatomy scan that was normal and no markers were brought up to me-I just needed to be rechecked as they werent able to see about half the the heart due to his position so I returned at 24 weeks. CPC typically regresses by 23 weeks regardless of karyotype [13]. I know the amnio is scary, but these days it's very safe. This article updates a previous article on this topic by Anderson and Brown.11. The possible etiology is not yet fully understood, but it may be of placental origin. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Hope . The amnio is diagnostic and also tests for other genetic problems not tested by the NIPT (1-2% risk in each pregnancy). Diagnostic testing should not be recommended to patients with an isolated soft marker in the setting of a negative NIPT result [9]. Obstet Gynecol Sci. This is called the fetal fraction. My question that I had for my doctor that she could not answer and I was wondering if you guys could help was-. Soft Markers, Neg NIPT s simariel I'll be 21 weeks pregnant with my second tomorrow, and at my 12 week NT scan the fluid was measuring 4.4mm which they like under 3mm so I did the NIPT. Because fetal aneuploidy can affect any pregnancy, all pregnant women should be counseled and offered aneuploidy screening regardless of age. Do not order serum aneuploidy screening after noninvasive prenatal testing has already been performed. Curr Opin Obstet Gynecol. Prenat Diagn. (8) for pregnant people with negative cell-free DNA screening results think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. I was a mess, met with the doctor after who reassured me she wasnt worried because the NIPT was negative and they see these markers all the time in healthy babies. I am 36 years old, IVF pregnancy with a fresh (untested) transfer, currently 23 weeks along. In this low risk population, soft markers were found in 5.9% of fetuses at second trimester ultrasound; markers were isolated in 5.1%, multiple in 0.7%, and combined with anomalies in 0.1% [1]. Semin Perinatol. For more information, please see our How did everything turn out for you?! Prenat Diagn. Keep me updated! Create an account or log in to participate. Thank you for responding. examination for reassessment and evaluation of growth (GRADE 1C); (11) Follow-up of sonographically detected soft markers for fetal aneuploidy. [12] reported both pregnancy and neonatal outcomes by the time of echogenic bowel detected. It is essential to provide information to the parents about the observed soft markers and its potential impact on prenatal and postnatal life. Coco, C, and Jeanty, P (2004). I know NIPT is only a screening test so Im very worried at this point and honestly feel trapped because I am so far along. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Prenat Diagn. I read that it could be a marker for Down Syndrome but was very common in boys so since Id had the negative NIPT and normal NT I tried not to worry too much. Search dates: March 2019 and January 2020. Intracardiac echogenic focus and fetal outcome. with negative serum or cell-free DNA screening results and an isolated By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. soft markers has shifted. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Please take long walks and do breathing exercises and know that eventually this will all be confirmed and resolved. Diagnostic testing should not be recommended to patients with an isolated soft marker in the setting of a negative NIPT result [9]. The impact of isolated single umbilical artery on labor and delivery outcome. I am anxious, terrified, confused, just hoping for good news. we recommend no further aneuploidy evaluation (GRADE 1B); (9) for fetal cytomegalovirus infection and a third-trimester ultrasound Sonographic markers of fetal aneuploidy--a review. Fetal VM is defined as a dilatation of the lateral ventricle atrium to a width of 10 mm or more. Mathiesen, JM, Aksglaede, L, Skibsted, L, Petersen, OB, Tabor, A, and Danish Fetal Medicine Study Group (2014). It might be clear and give you peace of mind, or it will give you clear information and you can move forward with certainty. Postnatal cardiac functions after the presence of prenatally diagnosed IEF are not associated with myocardial dysfunction during childhood [41,43]. A2-3, we recommend an individualized follow-up ultrasound assessment A summary of available aneuploidy screening tests is provided in Table 2.1,11,1317 The optimal test may depend on patient risk, preference, gestational age, availability, and cost. Choroid Plexus Cysts When is it Time to Worry? Multiple fetal intracardiac echogenic foci: not always a benign sonographic finding. Soft markers were originally introduced to prenatal ultrasonography to think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. If no screening has been third-trimester ultrasound examination for reassessment and evaluation Russo, ML, and Blakemore, KJ (2014). Simplifying the ultrasound findings of the major fetal chromosomal aneuploidies. Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. The genetic counselor said she was most concerned about Down syndrome, so thats definitely encouraging now that that is ruled out. Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. Single Umbilical Artery, or the Two Vessel Cord: What Does it Mean? Do two soft markers significantly raise my risk despite a negative test? Welcome back, Want to sign up? through cell-free DNA, or diagnostic testing via amniocentesis, Cue to yesterday at 31 weeks I had the follow up. Fetal cell-free DNA testing has similar detection rates in high- and low-risk populations but has lower positive predictive values in younger women. previous aneuploidy screening were low risk or testing was declined. Obstet Gynecol. All rights reserved Before 10 weeks' gestation, the percentage of fetal vs. maternal cell-free DNA circulating in maternal serum (the fetal fraction) may be too low to create a result. Soft markers are common and they are not usually associated with any handicaps, unless there is an associated chromosomal abnormality [4]. DiPietro, JA, Cristofalo, EA, Voegtline, KM, and Crino, J (2011). Second-trimester quad screening detects 81% of trisomy 21 cases1 (Table 31,21). I wanted the amnio for confirmation and am waiting, FISH results should be back tomorrow or Tuesday. I just had my anatomy ultrasound at 20 weeks exactly. The TRIP database was queried with similar terms. The results came back completely fine, very low risk for any abnormalities. Were only 21 and have a 15 month old too. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasonographic measurement of fetal nasal bone length in the second trimester in Korean population. Because this type of screening biopsies the portion of an embryo that becomes the placenta, it is susceptible to false-positive and false-negative results attributable to mosaicism (aneuploidy in the placenta that is not present in the fetus).12 Therefore, women who have conceived via in-vitro fertilization and undergone preimplantation genetic screening should still be offered aneuploidy screening during pregnancy.1. The purpose of this document is to discuss the Women with positive results on aneuploidy screening should be offered referral for invasive diagnostic testing. My OB did not even do an NT scan since I did the NIPT, which is much more accurate. However, a few studies have suggested that diffuse echogenicity in the fetal heart, especially when the right ventricle is also involved, may signal a poor prognosis and deserves a further search for associated pathologies [27,28]. My midwife thinks my odds are the same as they were before because of the NIPT - 1/10,000. It's much more likely that you have a false positive from soft markers than a false negative from the NIPT, but it can happen. to estimate the probability of trisomy 21 and discussion of options for We did MaterniT21 + at 9 weeks 4 days and were told 'negative' across the board for everything. J Ultrasound Med. I hope you get good results . The American College of Other studies have also reported that isolated short FL was associated with a significantly higher RR for small-for gestational age infants (odds ratio [OR], 4.34.4; 95% CI, 3.84.8) and early preterm delivery (OR, 4.2; 95% CI, 3.54.9) [31,32]. Acta Obstet Gynecol Scand. Ultrasonographic fetal soft markers in a low-risk population: prevalence, association with trisomies and invasive tests. When abnormal NIPT screening is discordant with (normal) invasive diagnostic testing, it may be attributable to placental mosaicism, maternal aneuploidy, or sometimes occult maternal malignancy. The OBG Project planners and others have nothing to disclose. Your post will be hidden and deleted by moderators. Fetal pyelectasis is defined as an anteroposterior measurement in a transverse scanning plane of 4 mm or larger in second trimester and/or 7 mm or larger in third trimester, whereas pelvic anteroposterior diameter 10 mm or larger is criteria for hydronephorosis [4,45]. During the period from 10/21/2021 through 10/21/2023, participants must read the learning objectives and faculty disclosures and study the educational activity. Just looking for stories/to talk to someone on a more human level, Just a question, if you did find out there's something wrong, what would you do about it? No other abnormalities or concerns were found. The overall prognosis of VM strongly depends on both the extent of enlargement and/or the presence of other abnormal findings or structural malformations. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. I decided to go for the amnio to be sure. In a 2015 randomized controlled trial comparing NIPT with first-trimester combined screening, NIPT detected 100% of trisomy 21 cases (false-positive rate of 0.06%) and 78.9% of trisomy 18 cases (false-positive rate of 0.01%).24 A 2017 meta-analysis reported that NIPT had a detection rate of 99.7% for trisomy 21 and 97.9% for trisomy 18, with a false-positive rate of 0.04% for both17 (Table 417,21). Im having an amniocentesis tomorrow but I feel like Im going to throw up.Has anyone had a similar experience? Prenat Diagn. It appears you don't have enough CME Hours to take this Post-Test. A randomized controlled trial reported a detection rate for trisomy 21 of 87% at 11 weeks' gestation, 85% at 12 weeks, and 82% at 13 weeks.13, Abnormal nuchal translucency is also a predictor of subsequent structural anomalies, and all women with abnormal nuchal translucency should receive detailed ultrasonography at 18 to 22 weeks' gestation.7 The American College of Obstetricians and Gynecologists (ACOG) recommends fetal echocardiography in these cases. If the renal pelvis measures >7 mm at 30 week examination, postnatal follow-up is suggested [14,15]. Im waiting for my amnio results to come back now, and Im so worried. and isolated choroid plexus cysts, we recommend no further aneuploidy Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patients conditions and possible contraindications and/or dangers in use, review of any applicable manufacturers product information, and comparison with recommendations of other authorities. They told me because my NIPT was negative that the chance of the reasoning behind the thickened nuchal fold being down syndrome is 1 in 10,000 but the chance of miscarriage after the amniocentesis is 1 in 1,000. Isolated pyelectasis was associated with an increased risk of congenital anomalies of the kidneys or urinary tract. J Ultrasound Med. Mi Sun Kim, Sukho Kang, and Hee Young Cho, Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea. The results came back negative so they pretty much brushed it off. Bar-Yosef, O, Barzilay, E, Dorembus, S, Achiron, R, and Katorza, E (2017). The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. Find advice, support and good company (and some stuff just for fun). These doctors see this all the time and I dont think they would give us false hope. Bromley et al. However, soft marker screening still remains a tool in screening for non-aneuploidy-related conditions such as, structural anomalies and adverse pregnancy outcomes that requires follow-up during pregnancy. She basically said that with the negative NIPT these soft markers findings don't change my chances. J Ultrasound Med. Describe the management of ultrasound soft markers if the aneuploidy screening result in negative, Estimated time to complete activity: 0.25 hours. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. The Society of Obstetricians and Gynaecologists of Canada notes that NIPT is less validated in twin pregnancies and should be used with caution, and ACOG recommends against it.1,7 However, a meta-analysis of NIPT in twin pregnancies reported a sensitivity of 99% for trisomy 21 and 85% for trisomy 18.38, As a stand-alone test, second-trimester ultrasonography has a reported sensitivity of 50% to 60% for trisomy 21.1 A series of soft markers for aneuploidy, none of which are considered congenital anomalies, may suggest a higher likelihood of trisomy 21 or 18 when seen on second-trimester ultrasonography.1,39 Many fetuses with aneuploidy will not have these soft markers on ultrasonography, and these soft markers are common in normal fetuses. Weichert, J, Hartge, D, Krapp, M, Germer, U, Gembruch, U, and Axt-Fliedner, R (2010). Catania et al. Copyright 2020 by the American Academy of Family Physicians. This is a question for a genetic counsellor, but I heard that its more likely to have a false positive. Also, asymmetric pattern of VM is a potential risk factor for anomalies of neuropsychological development [18]. thickened nuchal fold or isolated absent or hypoplastic nasal bone, we no further aneuploidy evaluation, noninvasive aneuploidy screening Kaijomaa, M, Ulander, VM, Ryynanen, M, and Stefanovic, V (2016). For fetuses with urinary tract dilation Copyright 2023 American Academy of Family Physicians. Scala, C, Familiari, A, Pinas, A, Papageorghiou, AT, Bhide, A, and Thilaganathan, B (2017). Renal Pyelectasis on Prenatal Ultrasound Next Steps? There is an association between CPCs and chromosomal defects, particularly trisomy 18. growth restriction, or additional soft marker following a detailed Faculty: Susan J. Just had my anatomy ultrasound on Thursday and they found a EIF and bilateral pyelectasis. I just had my anatomy scan today and the midwife said I have 2 soft markers (EIF and CPC). One in every 23 pregnancies with a NF measurement 5 mm had a congenital heart disease (sensitivity=3.3%, specificity=99.6%). There is no standard algorithm recommended by professional organizations. VM have been associated with normal variant, aneuploidy, genetic syndromes, primary brain abnormalities, congenital infection such as cytomegalovirus (CMV) and toxoplasma, cerebrovascular accidents and intracranial hemorrhage [1618]. Therefore, a comprehensive examination and evaluation for CMV infection is suggested, in addition to correlation with aneuploidy testing results. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Second Trimester Nuchal Fold What Does It Mean? Im very upset that for some reason I was not told about this second marker, as I definitely would have requested an amnio but it wasnt offered to me nor did they make any mention of the abnormalities both being markers. First trimester screening for trisomy 21 based on maternal age and fetal nuchal translucency detects about 70% of affected fetuses for a 3% false positive rate and with additional assessment of nasal bone, the detection rate increases to about 80% with the same false positive rate [40]. NIPT is used for screening trisomies 21, 18, and 13 and potentially some sex chromosome aneuploidies and some microdeletion [8]. Its sensitivity for trisomy 21 approaches 99% but these tests do not provide information on other chromosomal aberrations [9]. Clinical significance of sonographic soft markers: A review. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company. Hi everyone! Voskamp, BJ, Fleurke-Rozema, H, Oude-Rengerink, K, Snijders, RJ, Bilardo, CM, and Mol, BW (2013). Soft markers for aneuploidy following reassuring first trimester screening: what should be done?. Absent fetal nasal bone: what does it mean for the euploid fetus?. Shortened humerus length (HL) and femur length (FL) was observed in 0.4 to 3.9% of normal fetus [26]. So now they've recorded two soft markers in light of a negative NIPT and normal NT scan. At 32 years of age, your age-related risk for trisomy 21 is 1:695. probability of trisomy 18 and a discussion of options for noninvasive It is going to be a long two weeks waitingfor the full panel to come back though. just got negative FISH results too!! Combinations of these tests include integrated or serum integrated, stepwise sequential, and contingent sequential screenings, all of which improve detection rates compared with each test alone. Also, looking for soft markers of trisomy 21, should not be performed in women with a normal NIPT result due to its high false-positive rate and poor positive predictive value [11]. weeks of gestation to determine if postnatal pediatric urology or I was so happy when I was told that my results from the NIPT were 99% negative for Trisomy 21, but now Im terrified. For more information, please see our It seems to me every option is a good option in this case. Perles, Z, Nir, A, Gavri, S, Golender, J, and Rein, AJ (2010). SMFM has addressed the topic, with a focus on how to integrate these findings within current screening programs (NIPS and serum marker screening), Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester, Get specially curated clinical summaries delivered to your inbox every week for free, Already an ObGFirst Member? Cookie Notice Placental DNA fragments circulating in the maternal bloodstream are known as fetal cell-free DNA. Mild pyelectasis: evaluating the relationship between gestational age and renal pelvic anterior-posterior diameter. Isolated CPCs in fetuses with normal karyotypes do not affect child mental and motor development after birth [22]. What were your markers, if you don't mind me asking? Cell-free DNA testing, or noninvasive prenatal testing (NIPT), amplifies this DNA to determine if equal amounts are present from each chromosome.23 NIPT, which is generally performed at or after 10 weeks' gestation, can be used to determine the likelihood of trisomies 21, 18, and 13, as well as fetal sex and sex chromosome aneuploidy. However, fetus with structural abnormality by ultrasound should be offered diagnostic testing with chromosomal microarray because there is a substantial risk that a chromosomal abnormality other than trisomy 21, 18, and 13 is present in the fetus which will not be detected by NIPT [9]. "Is an EIF and a CPC found together at the same time considered isolated findings, since EIF is more linked to trisomy 21 (Down syndrome) and . Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. For example, the risk of a woman giving birth to a live newborn with trisomy 21 (Down syndrome) increases from one in 1,480 at 20 years of age to one in 85 at 40 years of age.1 Although the overall birth rate in the United States has declined, the portion of first births to women older than 30 years increased from 23.9% in 2000 to 30.2% in 2014.4,5 Because fetal aneuploidy can affect any pregnancy, all pregnant women should be counseled and offered aneuploidy screening regardless of age.1,6,7. Discuss the evaluation of ultrasound soft markers if aneuploidy screening has not yet been performed 2. Bromley, B, Shipp, TD, Lyons, J, Groszmann, Y, Navathe, RS, and Benacerraf, BR (2014). Combinations of first- and second-trimester screening are available to increase the detection rate of trisomy 21.1,13 Integrated screening combines first-trimester maternal serum PAPP-A and fetal nuchal translucency with second-trimester quad screening and detects 96% of trisomy 21 cases.13,14 When performed without first-trimester nuchal translucency (the serum integrated screening), the trisomy 21 detection rate is 88%.1 First-trimester results are withheld from the patient until the second-trimester screening is performed. Signorelli, M, Cerri, V, Taddei, F, Groli, C, and Bianchi, UA (2005). depending on clinical circumstances and patient preference (GRADE 1B); First- and second-trimester serum screening or first-trimester nuchal translucency alone can be used to screen women with twin pregnancies for aneuploidy, although detection rates are lower. Use of this site is subject to our terms of use and privacy policy. See permissionsforcopyrightquestions and/or permission requests. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. In the study of Kaijomaa et al. tiple soft markers were associated with an increased risk of con - genital anomalies and preterm birth [3,6,12-15]. SUA appears to be an isolated finding in 6080% of cases [4,33,34]. As with first-trimester combined screening, laboratories report 5% of all second-trimester quad screening tests as positive, most of which will be false positives. 2000-2023, Society for Maternal-Fetal Medicine. Individual references were reviewed from the bibliographies of other specialty guidelines with relevant articles reviewed in full text. intracardiac focus (EICF), and the Down syndrome screen (SIPS / IPS / Quad or NIPT) showed a negative screen (low risk), no further prenatal testing is recommended. J Clin Ultrasound. Prenat Diagn. When abnormal NIPT screening is discordant with (normal) invasive diagnostic testing, it may be attributable to. Pretest counseling should include a discussion of baseline age-dependent risk, the potential for false-negative and false-positive results, the difference between screening and diagnostic tests, and what types of follow-up testing to expect.9 The use of decision aids (examples are available at https://www.psychosocialresearchgroupunsw.org/decision-aids.html) may improve a woman's ability to make an informed choice.10 All prenatal aneuploidy screening tests optimize detection rates (high sensitivity) and test for relatively uncommon conditions, resulting in high negative predictive values but low positive predictive values. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. CPC is not considered a structural nor functional brain abnormality [4]. Risk of adverse outcomes in euploid pregnancies with isolated short fetal femur and humerus on second-trimester sonography. Fetal Diagn Ther. PPs are correct that the soft markers are far more likely to give you a false positive than getting a false negative on NIPT. recommends the following approach to the evaluation and management of Fetal short long bones have been associated with aneuploidy, skeletal dysplasia, fetal structural anomalies, preeclampsia, stillbirth and FGR. Shortened humerus and femur are defined as bone length below the 5th percentile for gestational age [30]. Controversy exists regarding the association between aneuploidy, small for gestational age (SGA), preterm birth and isolated SUA. Lancet. When results are negative, quad screening is added in the second trimester to refine risk, resulting in an overall trisomy 21 detection rate of 95%.15, In the contingent sequential screening approach, the results of first-trimester combined screening are classified into three risk categories: high (1% of results), intermediate (18% of results), or low (81% of results).18 Patients at high risk are offered invasive diagnostic testing, and patients at low risk receive no further testing. [16], the fetuses with isolated unilateral VM had 0% chromosomal abnormalities, 8% congenital infection, and in about 5% of fetuses, there is progression of VM during the course of the pregnancy. In case of a positive result for toxoplasma infection in maternal serum, amniocentesis is performed to determine the presence of the pathogen in the amniotic fluid by amplification of DNA, using polymerase chain reaction [38]. Short HL and FL may be an early sign of placental dysfunction and warrant increased antenatal surveillance with repeated sonography for growth assessment and frequent blood pressure measurements [32]. Fetal Diagn Ther. Echogenic bowel resolves spontaneously in 19.7% of cases and the association with Down syndrome reported likelihood ratio of 5.5 to 6.7 [13]. The potential for a fetus to be affected by genetic disorders that are not evaluated by the screening or diagnostic test should also be reviewed. Get guideline notifications But your markers seem very soft! While most commonly fetal pyelectasis is a transient physiologic state, it can be a marker for aneuploidy and be a precursor of potential urinary tract pathology [3]. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference. 2005-2023Everyday Health, Inc., a Ziff Davis company. This educational content is not medical or diagnostic advice. [44] has provided some reassurance that there was no evidence of any serious long term bowel disease associated with isolated fetal echogenic bowel. Use of the soft markers may increase the positive predictive value in patients with first trimester combined screening (FTS) (combination of maternal age, biochemical screening tests of free -hcg and PAPP-A, and nuchal translucency) [7]. We strive to provide you with a high quality community experience. Has anyone had a false negative NIPT? methods refers to all maternal screening strategies, including However, Canadian guidelines suggest that this measurement is unnecessary when high-quality second-trimester ultrasonography is available.7. It seems impossible to have so many soft markers and for the baby to be healthy. Negative NIPT but found two or more soft markers on ultrasound? evaluation, as this finding is a normal variant of no clinical Bronshtein, M, Jakobi, P, and Ofir, C (1996). I had the NIPT @ 12 weeks and everything came back as normal 99% negative for Down Syndrome. I will say Ive done a ton of research online and its all reassuring. Liau, J, Romine, L, Korty, LA, Chao, C, White, K, and Harmon, S (2014). NIPT and invasive prenatal testing are acceptably offered in high risk population (advanced maternal age, abnormal FTS results, history of fetal aneuploidy, known balanced translocation, or other chromosomal rearrangements in one of the parents) with soft marker and those with any combination of two soft markers [4,6]. Aneuploidy is the presence of one or more extra chromosomes or the absence of one or more chromosomes.
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