chromosome 21, 18 and 13 material negative mean

21 AML. Genomic DNA was sheared with a Covaris S2 sonicator (Covaris Inc., Woburn, MA, USA). Guangzhou Darui Biotechnology Co. LTD, Guangzhou, China, Affiliation The trend appeared to represent a strong positive correlation between the z-score of chromosomes 21, 18, 13 and fetal DNA fraction in the maternal plasma when the fetus had trisomy 21 (rT21 = 0.905, pT21 = 0.00) (Fig 3A), trisomy 18 (rT18 = 0.887, pT18 = 0.00) (Fig 3B) or trisomy 13 (rT13 = 0.858, pT13 = 0.01) (Fig 3C). There are many types of chromosome abnormalities. To validate our method, we investigated cff DNA fractions of 2,063 pregnant women with fetuses who were diagnosed as high risk of fetal defects. https://doi.org/10.1371/journal.pone.0146997.g003. Chromosomes are found in the nucleus of all body cells. %%EOF Some researchers believe that errors can crop up in the eggs' genetic material as they age. A ring chromosome occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. 1997-1998;1(4):301-6. doi: 10.1089/gte.1997.1.301. To help identify chromosomes, the pairs have been numbered from 1 to 22, with the 23rd pair labeled "X" and "Y." Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair, the condition is called monosomy. So now I have to wait 2 more weeks to find out what that means. Reciprocal translocation: two non-homologous chromosomes swap fragments. WebSummary. If a chromosome pair loses or gains a member, or even part of a member, the delicate balance of the human body may be disrupted. N2HEaHAK Specialized tests may also be conducted to help detect and/or characterize certain abnormalities that may be associated with the disorder. Philadelphia, PA: W.B. How is chromosomal "rearrangement" different from "crossover"? Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosome structural rearrangements. Through optimizing the procedure of NGS to increase cff DNA fractions in our sequencing samples, it may be possible to undertake aneuploidy screening via NGS at an earlier gestational age than the optimal one of 12 weeks [36]. Real-time polymerase chain reaction (PCR) is the most commonly used technology for the quantification of fetal DNA in male-bearing pregnancies, and relies on the presence of Y chromosome-specific sequences such as SRY [1113]. WebTrisomy 18 and trisomy 13 are genetic disorders that include a combination of birth defects. Limb malformations may also be present, such as relatively small hands and feet; short fingers; abnormal deviation of the pinkies or fifth fingers (clinodactyly); and/or webbing or fusion (syndactyly) of certain toes. 2004 We're celebrating 40 years of rare disease advocacy. This is the only form of Down syndrome that may be inherited from a parent. One cell with 46 chromosomes divides and becomes two cells with 46 chromosomes each. Data Availability: All relevant data are within the paper. Based on this method, the procedures of NGS were modified to increase the cff DNA fraction by discarding the large size DNA fragment during library construction, which is useful to increase the reliability of samples with low levels of cff DNA and screening for aneuploidies at an earlier gestational time. Aneuploidy and nondisjunction. 15 0 obj <> endobj Your body has many different kinds of cells, such as skin cells, liver cells and blood cells. A paired t-test showed a statistical significance between group A, in which the large-size DNA fragment was discarded, and group B, in which it was retained (mean = 1.50%, t = 13.66, p = 0.00). Monosomy 18p syndrome with holoprosencephaly. The comparison can be used to find chromosomal abnormalities where the two samples differ. These newer methods compare the patient's DNA to a normal DNA sample. Yes for research into Down syndrome. However, such a chromosomal rearrangement may be associated with an increased risk of abnormal chromosomal development in the carriers offspring. You can learn more in the article on, In another class of large-scale mutations, big chunks of chromosomes (but not entire chromosomes) are affected. Because researchers J Neurol. However, an extra copy of some of the smaller chromosomes (13, 15, 18, 21, or 22) can allow the affected individual to survive for a short period past birth, or, in some cases, for many years. https://doi.org/10.1371/journal.pone.0146997.g004. Fluorescence In Situ Hybridization Fact Sheet. Clinical correlation is required. 1999 Sep;36(9):694-9. However, this method to determine fetal DNA fraction is based on the Y chromosome, so it can only be applied to pregnant women bearing a male fetus. %PDF-1.6 % As noted earlier, holoprosencephaly may also result in various abnormalities of midfacial development. (Cases in which only a percentage of an individuals cells has the chromosomal abnormality while other cells have a normal chromosomal make-up are known as mosaicism.). The z scores of chromosome 13 (A), 18 (B) and 21 (C) are compared among three kinds of cff DNA fractions about 3.5%, 5% and 10%, respectively. In some cases, Chromosome 18, Monosomy 18p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). Analysis of the accuracy of Z-scores of non-invasive prenatal Licht JD. We recommend this invasive test for patients of moderate risk who want a diagnosis rather than a screening test and who are aware of the risk of miscarriage. Quincy, MA 02169 Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. The specific roles of these authors are articulated in the author contributions section. There was no statistical significance between the fetal DNA fractions and maternal age in our study (r = -0.03, p = 0.92) (Fig 2A). The detection rate is lower than theIntegrated Screenand therefore is recommended for patients who present for care in the second trimester. We enriched template-positive ISPs for up to 200 base-pair sequencing of a library using the Ion OneTouch ES Instrument. Reports suggest that some with the condition may have a normal or near normal facial appearance, while others may have relatively mild to extremely severe midline facial defects. Is this cell/organism considered aneuploid or euploid? A relatively accurate approach to infer fetal DNA fractions directly from semiconductor sequencing data of DNA in maternal plasma, without prior knowledge of fetal and parental genotype information or additional laboratory steps, was developed. There was a positive correlation between gestational age and the cff DNA fraction in the clinical samples, but no correlation for maternal age. Associated symptoms and findings may vary greatly in range and severity, depending upon the amount and location of lost genetic material and other factors. Trisomy 13 is a genetic abnormality characterized by the presence of an extra copy in the chromosome 13. Trisomy 18 is an autosomal genetic disorder caused by the presence of an extra copy of chromosome 18. Chromosome 13 has extra genetic materials. Chromosome 18 has extra genetic materials. Trisomy 13 is more severe than the trisomy 18. It has been recommended that NIPT be offered to pregnant women at high risk for having a fetus with autosomal aneuploidy by several professional societies, including the American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG) and the International Society for Prenatal Diagnosis [2022]. The proportional trend of cff DNA fractions among different pregnancies were analyzed by this method to increase the detection rate and reduce the false-positive rate of NIPT for trisomies 21, 18 and 13. Genetic counseling will also be of benefit for affected individuals and their families. The enriched templates of 12 libraries were loaded onto one Ion PI Chip v2 and sequenced on the Ion Proton, a semiconductor sequencing platform, with an average of 3.5x sequencing coverage per nucleotide using the Ion PI Sequencing 200 Kit v3 (Life Technologies, Carlsbad, CA, USA). Valero R, Marfany G, Gil-Benso R, Ibanez MA, Lopez-Pajares I, Prieto F, Rullan Chromosome 21. Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, After removing low-quality and duplicate reads, a two-step correction was applied to remove the variations among bins: bin-offset correction and GC correction. Int J Dev Biol. Yes New comments cannot be posted and votes cannot be cast. I think youre right! Consequently, the objective of this study was to develop a method to quantify fetal DNA fractions directly from NGS data, and optimize library construction procedures of NGS to increase the fraction of cff DNA. The first equation was used to calculate %chrYmale for each sample among the 360 artificial DNA mixture samples with fetal DNA; the median was chosen as the real %chrYmale to calculate the fetal DNA fractions. Curr Opin Genet 8/)M1^nFfo1w?eni am{nN]K"u/i Nlu+$cuA9~GwYPva`l The numb, Posted 6 years ago. One such method is called noninvasive prenatal testing. For example, acute lymphoblastic leukemia (a type of blood cancer most often diagnosed in childhood) has been associated with a translocation between chromosomes 12 and 21. These tests are all considered optional; however, approximately 90% of patients pursue testing. A rare form is called mosaic trisomy 21. Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Chromosome 21 - an overview | ScienceDirect Topics What does Clinical correlation is recommended mean? The cff DNA fractions are compared between the paired clinical samples in group A and group B (C). 2001 Sep 10;20(40):5660-79. doi: 10.1038/sj.onc.1204593. rCcA@Q ou[)tytk/k/^x7|Oh>nVx~tW;Y{5R]+Qt46[7NF~dY9MSM1u*?D:DV&Gv|)nGW3MuY&kK|"\8##Q08"8$DHw>>:t*h ZPfz%/`?_%0x XCbNU?[ByXMPV]32y_x#-^n W'i2$ZEuxJ/+Al`FH'-=YpY\w6"x./~yR >a6tA57d[>PNo. AML1 and the AML1-ETO fusion protein in the pathogenesis of t(8;21) This gives you and your health care provider the information and confidence you need to plan effectively. The treatment of Chromosome 18, Monosomy 18p is directed toward the specific symptoms that are apparent in each individual. No, Is the Subject Area "Down syndrome" applicable to this article? U.S. Department of Health and Human Services. Two copies of chromosome 21, one copy inherited from each parent, form one of the pairs. QNatal Advanced - ReachMD No patient organizations found related to this disease state. Some things just work well in pairs. However, such features commonly include an unusually small head (microcephaly); a broad, flat nose; a carp-shaped mouth; large, protruding ears; widely spaced eyes (ocular hypertelorism); and/or other abnormalities. Artificial DNA mixture samples were prepared by adding the appropriate proportion of the fragmented male DNA fraction into the peripheral blood plasma from non-pregnant healthy women. Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). Chromosome 21 abnormalities can cause intellectual disability, delayed development, and characteristic facial features. Non-Invasive Prenatal Screening (NIPS Fax: 203-263-9938, Washington, DC Office Many affected infants also have certain eye (ocular) abnormalities, such as widely spaced eyes (ocular hypertelorism); drooping upper eyelids (ptosis); vertical skin folds that may cover the eyes inner corners (epicanthal folds); and/or abnormal deviation of one eye in relation to the other (strabismus). Translocations occur when regions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. WebThe MaterniT21 PLUS test reports positive or negative results for trisomy 21, 18, and 13. By optimizing, we can improve cff DNA fractions in sequencing samples, which may contribute to improvements in detection rate and reliability. A total of 48 paired clinical maternal plasma samples were collected to investigate whether an increase in the cff DNA fraction would result from discarding the large size DNA fragment during library construction. This condition is most often caused by trisomy 21. However, such malformations often include an abnormally small head (microcephaly); a distinctively round face (that may change with age to appear relatively long); a wide, carp-shaped mouth with downturning corners; a flattened or broad nose; and large, poorly formed, low-set ears. Considering the influence of multiple factors on fetal DNA concentration, our method will contribute to a more accurate implementation of noninvasive detection methods for fetal trisomy in pregnant women. 1988;31:60-64. Chromosomes are the structures that hold genes. Direct link to Taylor's post If there's a diploid (2n), Posted 6 years ago. 5th ed. The resulting plasma-extracted DNA was used as input DNA to construct a DNA library for sequencing, separately. Chromosome 18, Monosomy 18p appears to affect females more frequently than males by a ratio of approximately three to two. 2002 Thats a really good question. Chromosome Abnormalities Fact Sheet 1779 Massachusetts Avenue WebMost autosomal trisomies also prevent an embryo from developing to birth. Common Chromosomal Trisomies 21, 18, and 13 | Obgyn Key doi: A human cell with an extra chromosome, in this case, an extra copy of chromosome 3. 10.2741/3977. In approximately 10 percent of individuals with Monosomy 18p, holoprosencephaly may be present. Oncogene. Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, (2016) A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection. R6DX !H2 Xue-Xi Yang, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, And of course the receptionist answered and said that they cant explain my results over the phone. Nature. ;I3 A genetic rearrangement (translocation) involving chromosome 21 is associated with a type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML). WebNIPD Noninvasive Prenatal Diagnosis: The MaterniT21 PLUS laboratory-developed test is a non-invasive blood test that is available for women with increased risk indicators for fetal chromosome variations at 10 weeks of pregnancy and beyond. Genes are the individual instructions that tell our bodies how to develop and function; they govern physical and medical characteristics, such as hair color, blood type and susceptibility to disease. Solid line markers shows the correlations between the z score and cff DNA fractions for the trisomy 21, 18, 13 cases (blue) and negative cases of chromosome 21, 18 and 13(green). In the past decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. 201400000004-4), Science and Technology Program of Guangzhou (Grant No. Buyse ML. Has this happened to anyone? Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who specialize in disorders of the skeleton, muscles, joints, and related tissues (orthopedists); neurologists; speech-language pathologists; and/or other health care professionals. Depictions are positive cases of pregnancies bearing fetuses with trisomy 21, 18, 13 (red triangles) and their negative cases (green circles). Associated craniofacial defects may vary greatly in range and severity from case to case. Pairs are important in genetics, too. Ways to quantify cff DNA fractions from the sequencing data directly without prior maternal genotype information and additional laboratory analyses are still needed. Human genetic disorders can also be caused by aneuploidies involving sex chromosomes. NIPD Noninvasive Prenatal Diagnosis:The MaterniT21 PLUS laboratory-developed test is a non-invasive blood test that is available for women with increased risk indicators for fetal chromosome variations at 10 weeks of pregnancy and beyond. This specimen showed an expected representation of chromosomes 21, 18, and 13 material. I think the upper one is 2n-1 and the bottom one is 2n+1. Chromosome abnormalities usually occur when there is an error in cell division. Some methods require a simple blood test, while others are more invasive and associated with some risk. Yes We developed an approach to quantify cff DNA fractions directly with sequencing data, and increased cff DNAs by optimizing library construction procedure. What is noninvasive prenatal testing (NIPT) and what Figure1. Amplification plot of the real For instance, if n=12, then it would be 2n+24? Monosomy 18p is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically). Just got my results on genetic testings to find out the gender and to find out if my baby tests positive or negative for Down syndrome. Gestational age had a positive correlation with the cff DNA fraction in maternal plasma, as reported previously [10, 33]; a strong negative correlation between fetal DNA fraction and maternal weight was also reported in earlier studies [10, 32, 37]. Yes Antonarakis SE. Enter your email address to receive updates about the latest advances in genomics research. doi: 10.1086/520000. What's the difference between Crossing Over and Reciprocal Translocation? If you're seeing this message, it means we're having trouble loading external resources on our website. In many cases, those with Chromosome 18 Ring are affected by mental retardation; low muscle tone (hypotonia); growth retardation; and/or malformations of the skull and facial (craniofacial) region. This is the way most of the cells that make up our body are made and replaced. 2000;1(2):REVIEWS0002. [7] Changes in chromosome number may not necessarily be present in all cells in an individual. Disease Overview. Ying-Song Wu, * E-mail: wg@smu.edu.cn (YSW); yxxzb@sohu.com (XXY). Additional abnormalities may include an unusually small, retracted lower jaw (microretrognathia) and a potentially increased risk of tooth decay (dental caries). In some cases, physicians may recommend surgical repair of certain craniofacial, skeletal, ocular, and/or other defects potentially associated with the disorder. There are two kinds of cell division, mitosis and meiosis. No, Is the Subject Area "DNA sequencing" applicable to this article? Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The cff DNA is present in a wide background of maternally-derived DNAs [1, 23], and any increment in the total DNA amount (fetal and maternal) of target chromosome DNA molecules will be diluted by contributions from the pregnancy. WebThe human body has 23 distinct chromosome pairs or copies. Plasma was separated by centrifugation and plasma DNA extracted using a commercial blood DNA kit (GenMag Circulating DNA from Plasma Kit, GenMag Biotech, Beijing, China) [30] following the manufacturer's instructions, quantified by Qubit2.0 and stored at -80C before use. The typical number of chromosomes in a human cell is 46: 23 pairs, holding an estimated total of 20,000 to 25,000 genes. Y Chromosomal material For more information about PLOS Subject Areas, click fascinating disorders with unknown pathophysiology. The chromosome number of this cell is 2n-1 = 45. Yes There was a distinct non-statistical relationship between the z-scores of chromosomes 21 and 13 and fetal DNA fractions in the negative samples of aneuploidies (r negative (T21) = -0.21, p = 0.52; r negative (T13) = -0.04, p = 0.22) (Fig 3A and 3C), but a negative correlation was observed between the z-scores of chromosome 18 and fetal DNA fractions (r negative (T18) = -0.74, p = 0.02) (Fig 3B). The disorder may also be characterized by additional physical abnormalities, such as deficiency of a particular antibody (i.e., immunoglobulin A [IgA]) that helps to fight certain infections; rib and/or spinal column (vertebral) defects; abnormal deviation (clinodactyly) of the fifth fingers; webbing of the neck; structural malformations of the heart (congenital heart defects); and/or kidney (renal) defects. Direct link to Lakshmi Sriram's post It is anueploid. Solid line markers shows the correlations between the z score and cff DNA fractions for the trisomy 21, 18, 13 cases (blue) and negative cases of chromosome 21, 18 and 13(green). Further research is needed to develop a method suitable for all pregnancies independent of gender. Though the odds of that happening are extremely rare. Analyzed the data: XPX; HYG. Danbury, CT 06810 NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. However, an extra copy of some of the smaller chromosomes (13, 15, 18, 21, or 22) can allow the affected The mean maternal age was 31 years and the mean gestational age was 17 weeks and 2 days. The likelihood of that actually happening is very rare. MaterniT21 Early intervention may be important in ensuring that affected children reach their potential. 3 Thus, the sensitivities for T18 and T13 tend to be lower than T21. hb```PV eaXAzi{Cz[8KE-PchX% In these cases, the abnormality is present in every cell of the body. Chromosome 18 Ring is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically). The shorter arm is called the "p" arm. I think it is that :in crossing over it is a swap of segments of a two homologous chromosomes, but in reciprocal translocation it is a swap of segments of two non-homologous chromosomes, leading to certain genes being on chromosomes they shouldn't be. Mitosis results in two cells that are duplicates of the original cell. In some instances, Monosomy 18p may be characterized by other physical findings. Trisomy 21 also known as the Down syndrome is a type of chromosomal aberration occurs due to the extra copy of chromosome 21 or its part. In 1866, John Langdon Down described the clinical features of trisomy 21, and hence from his name, it is known as the down syndrome. In this article, well examine how changes in chromosome number and structure come about, and how they can affect human health. The sequences were binned for each sample according to the index and mapped to the unmasked human genome sequence (hg19). But that does not mean it's impossible, there's never a 0% (or 100%) of anything in science (in most cases). Monosomy 18p usually appears to be caused by spontaneous (de novo) errors very early in embryonic development. Errors can also occur when the chromosomes are being duplicated. e0146997. Non-reciprocal translocation: a fragment is removed from a donor chromosome and inserted into a recipient chromosome. Group 1 contained samples with NIPT results of 3 Z<5. Affected people have two copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. If we dont have a program for you now, please continue to check back with us. and/or Personal/family history of chromosomal abnormalities. A least significance difference (LSD) test revealed statistical significance between the z-score of chromosome 13 and cff DNA fraction in the groups with 10% and with 3.5% fetal DNA samples (p < 0.05), as well as the groups with 10% and 5% fetal DNA samples (p < 0.05).There was no significance between z-score and cff DNA fraction in the groups with 5% and 3.5% fetal DNA samples (p > 0.05). hbbd```b``"aDl@$K8|& DrH|9! As previously reported, fetal-derived DNA molecules in maternal plasma are generally shorter than those derived from the mother [2629]. This is where chromosomes are located. WebA negative result means that extra chromosome 21, 18, or 13 material was not detected in the blood sample. Two common types of aneuploidy have their own special names: Diagram illustrating euploidy and aneuploidy. Aneuploidy & chromosomal rearrangements (article) | Khan Academy WebNegative Trisomy 13. Methods Then right after the last is listed it says Interpretation and thats the verbiage I posted. Lam K, Zhang DE. Leuk Res. Although NIPT performs well, some cases are discordant with the direct karyotype. Most chromosome abnormalities occur as an accident in the egg or sperm. https://www.ncbi.nlm.nih.gov/books/NBK482240/. Changes in a cell's genetic material are called, Each species has a characteristic chromosome number, such as, If a cell is missing one or more chromosomes, it is said to be. And what about a cell/organism containing 2n - 2 chromosomes, supposing these two missing ones are paired up? This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Direct link to John Nardella's post Curious to know if there , Posted 4 years ago. }&Cu]t_R]gy||8_9m8t`>(X(\f=OW?;VxEa!y?SY9iCWue E{t$S9`xx*m*)_@O)zmL Since Monosomy 18p was originally described in 1963, over 120 cases have been reported in the medical literature. Trisomy 21, 18, or 13 means there are three copies of that particular chromosome instead of two Down syndrome is a reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute Therefore, removing the large-size DNA fragments may effectively help increase the detection rate and reduce the false-positive rate of NIPT for trisomies 21, 18 and 13, especially for those z-scores located in an equivocal zone with an absolute value close to 3. No, Is the Subject Area "Y chromosomes" applicable to this article? Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML; Chromosome 21 Chromosome 21 is the smallest human chromosome, spanning about 48 million base pairs (the building blocks of DNA) and representing 1.5 to 2 percent of the total DNA in cells. *t~oU*x_7Z|o~wFU|~7VM?|x_rZ&OG5zZ Orydo9of}|N/d*bmB:C.v^y*KIudw#ul1Z;u8[`^Z>i5}\hjJ8N([=rA?/v68F4r0@_&fkzu-6nz1^$oi=KOl[|ff*lg}+[4W}v`/!Yg6UD7l;_sw[B2D FX6? Most of your cells contain. Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. National Human Genome Research Institute: Chromosome Abnormalities. New York, NY: Oxford University Press; 1990:52-53, 573-80. WebWomen's Health & Genetic Testing | Labcorp Women's Health Cell-Free DNA Prenatal Screening Test | ACOG All the other chromosomes are still arranged in pairs of two, but there are three copies of chromosome . according to LabCorp it says Chromosome 21 - Negative, Chromosome 18 - Negative, and Chromosome 13 - Negative. Furthermore, basic information is required to find paternally-inherited fetal SNP allele loci with a 100% heterozygous frequency between the fetus and mother that can be used in all pregnancies, as well as the fetal specific methylation loci.

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