Table of ContentsView AllTable of ContentsSignsBlood TestsDiagnostic TestsPhysical ExamNext in Down Syndrome GuideTreatments for Down Syndrome
Table of ContentsView All
View All
Table of Contents
Signs
Blood Tests
Diagnostic Tests
Physical Exam
Next in Down Syndrome Guide
This article covers how ultrasounds and blood tests can reveal possible signs of Down syndrome. It also covers diagnostic tests your healthcare provider may recommend.
Signs of Down Syndrome on Ultrasound
While imaging tests can help indicate the possibility of Down syndrome, they cannot confirm it. Likewise, a negative test does not rule out Down syndrome.
Ultrasound (Sonogram) Screening
Occasionally, but not always, infants with Down syndrome show subtle signs, called soft markers, on an ultrasound that suggest they may have Down syndrome, including:
18-Week Ultrasound: A Glimpse at Anatomy and Organ Health
It is important to note that most fetuses with Down syndrome show no abnormalities on ultrasound, which can be falsely reassuring to parents who are especially concerned about this disorder.
Nuchal Translucency Ultrasound Screening
This specialized ultrasound, which is performed at 11 to 14 weeks, measures the thickness of an area of tissue at the back of a fetus’s neck called the nuchal fold.Though this test is recommended for all pregnant women, it is a difficult measurement to obtain and only someone who has been specifically trained and certified to perform this screening can do it.
In general, a measurement under 3 millimeters (mm) is considered normal (or screen negative) and one that’s over 3 mm is considered abnormal (or screen positive).In the latter case, it will be important to meet with a genetic counselor to discuss your screening results, what they mean, and your diagnostic testing options such aschorionic villisampling (CVS) oramniocentesis(see below).
How Accurate Is Ultrasound for Detecting Down Syndrome?An ultrasound can’t diagnose Down syndrome definitively, but some ultrasound findings may suggest it. For example, approximately 39% to 45% of infants born with Down syndrome present with a thickened nuchal fold during the second trimester ultrasound.
How Accurate Is Ultrasound for Detecting Down Syndrome?
An ultrasound can’t diagnose Down syndrome definitively, but some ultrasound findings may suggest it. For example, approximately 39% to 45% of infants born with Down syndrome present with a thickened nuchal fold during the second trimester ultrasound.
Maternal Blood Tests for Down Syndrome
It’s important to know that blood tests are used for screening and, like imaging tests for the condition, only indicate the level ofpossibilitythat a child has Down syndrome.
Positivescreening results mean the chances a fetus has Down syndrome are higher than normal, so follow-up diagnostic testing will be offered. That said, most women with screen-positive results will have normal healthy babies.
Quadruple Screen
Thismaternal blood test, which is part of routine prenatal care for all expectant moms, typically is performed between the 15th and 22nd weeks of pregnancy.It measures levels of four specific substances. Three of these happen to be associated with Down syndrome:
Prenatal Cell-Free DNA Screening (cfDNA)
This relatively new test extracts DNA from both mother and fetus using a sample of the mother’s blood and screens for chromosome problems such as Down syndrome (as well as trisomy 13 and trisomy 18).It can be done as early in pregnancy as 10 weeks but is not routinely done.
According to the American College of Obstetricians and Gynecologists (ACOG), healthcare providers will recommend cfDNA only for women with certain risk factors for fetal defects, including advanced maternal age (35 or over); a fetal ultrasound that shows an increased risk of chromosome abnormality; a previous pregnancy with a trisomy; a positive first- or second-trimester maternal screening test; or a known balanced chromosome translocation in the mother or father.
While these screenings can be helpful, the only way to definitively diagnose Down syndrome is to get a diagnostic test.
Diagnostic Tests for Down Syndrome
If a prenatal screening test indicates there’s a possibility your child will have Down syndrome or if you have risk factors for having a child with the disorder, then you may be faced with taking the next step and confirming the diagnosis. This is an extremely personal decision and one that’s fraught with complex emotional and practical implications.
Deciding Whether to Have a Confirming Test
It can be helpful to ask yourself very specific questions about whether prenatal testing to confirm a diagnosis of Down syndrome (or any birth defect) is the right thing for you and your family.For instance, you’ll want to consider your personality: Do you handle things better when you know what to expect? Or would knowing that you’re carrying a child with trisomy 21 cause you to have overwhelming anxiety?
Be open about your thoughts when speaking with your healthcare provider and know that getting a diagnostic test is entirely your choice.
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Karyotyping
If you decide to move forward with diagnostic testing, amniocentesis and chorionic villi sampling will be offered to you. Tissue retrieved with either of these procedures will bekaryotyped.
Under normal circumstances, there are 46 chromosomes organized in 23 pairs. Chromosome pairs are numbered 1 through 23.In the case of Down syndrome, there is an extra chromosome in the 21st spot, meaning there are three of this particular chromosome. (This is why the clinical name for Down syndrome istrisomy 21.)
How a Karotype Test is Done and What It Means
Amniocentesis:This test, which is done between weeks 15 and 20 of pregnancy, creates a karyotype using a sample of amniotic fluid. A healthcare provider uses an ultrasound to help guide a long, thin needle into a woman’s abdomen and through to the uterus in order to extract a sample of fluid from the amniotic sac.This fluid contains skin cells that have sloughed off of the fetus, which will then be tested.It takes just a few moments to extract amniotic fluid, but most women do report feeling some discomfort and mild cramping. Amniocentesis is relatively safe: It carries a 1-in-400 risk of causing miscarriage.The process of culturing the cells so that they can be karyotyped can take up to two weeks.
According to the National Down Syndrome Society (NDSS), the test is nearly 100% accurate in diagnosing Down syndrome prenatally.In addition, it can distinguish between complete trisomy 21, translocation Down syndrome, and mosaic Down syndrome.
Chorionic villi sampling (CVS):As with amnio, CVS testing uses karyotyping to diagnose Down syndrome.However, the cells examined are taken from structures in the placenta called chorionic villi.
CVS is performed at 11 to 13 weeks of pregnancy and is done in one of two ways: Either a needle is inserted directly into the abdomen or is threaded through the cervix (much like having a Pap smear).
It usually takes a couple of weeks for full results from CVS testing to be finalized.
FISH Testing
Fluorescentin situ hybridization(FISH testing or FISH analysis) is a relatively new technique that can determine how many copies of a particular chromosome a cell has.It’s usually done using the same tissue sample from an amniocentesis or CVS test.
To perform a FISH analysis, colored dyes are used to highlight certain chromosomes, which makes it possible to count them.One advantage of using FISH analysis rather than karyotyping is that it isn’t necessary to culture cells before analyzing them. This means results can be available in a few days rather than a few weeks.
A disadvantage of FISH is that, unlike karyotyping, it only can reveal if there is an extra chromosome 21. It doesn’t offer information about the structure of the chromosomes that would be needed to identify the type of Down syndrome.
Physical Examination
Summary
Down syndrome can almost always be diagnosed soon after birth due to the recognizable physical features this condition causes. Some features of Down syndrome can be detected before birth during routine ultrasounds in the first and second trimesters of pregnancy. Positive ultrasounds prompt further investigation with blood tests or amniocentesis, which may confirm a diagnosis.
Expecting parents should be aware that even when ultrasounds appear normal, there is still a small chance their child will be born with Down syndrome. If an ultrasound is positive for traits of Down syndrome, they will be given a choice to proceed with further diagnostics.
Treatments for Down Syndrome
22 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Centers for Disease Control and Prevention.Down syndrome.Penn Medicine.Screening for Down syndrome.Kim M, Kang S, Cho H.Clinical significance of sonographic soft markers: a review.J Gen Med. 2018 Jun;15(1):1-7. doi:10.5734/JGM.2018.15.1.1Beth Israel Deaconess Medical Center.Ultrasounds during pregnancy: How many and how often?Mount Sinai.Nuchal translucency test.Kataguiri M, Júnior E, Bussamra L, Nardozza L, Moron A.Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.J Pregnancy. 2014 Mar;2014(1):1-7. doi:10.1155/2014/785730Alldred SK, Takwoingi Y, Guo B, et al.First trimester serum tests for Down’s syndrome screening.Cochrane Database Syst Rev. 2015;(11):CD011975.Mount Sinai.Quadruple screen test.John Hopkins Medicine.First trimester screening, nuchal translucency and NIPT.Palomaki GE, Kloza EM.Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genet Med. 2018;20(11):1312-1323.American College of Obstetricians and Gynecologists.Cell-free DNA prenatal screening test.Dervan AP, Deverka PA, Trosman JR, Weldon CB, Douglas MP, Phillips KA.Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.Genet Med. 2017;19(5):559–567. doi:10.1038/gim.2016.145Weichert A, Braun T, Deutinger C, Henrich W, Kalache KD, Neymeyer J.Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies.J Perinat Med. 2017;45(2):205-211.Sun F, Oristaglio J, Levy SE, et al.Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2015 Jun. (Technical Briefs, No. 23.) Appendix B, Genetic Testing Overview.Mount Sinai.Karyotyping.Genetic Alliance; District of Columbia Department of Health.Understanding genetics: A District of Columbia Guide for Patients and Health Professionals.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9:CD003252.National Down Syndrome Society.Understanding a diagnosis of Down syndrome.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9(9):CD003252. doi:10.1002/14651858.CD003252.pub2Hu L, Ru K, Zhang L, et al.Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine.Biomark Res. 2014;2(1):3. doi:10.1186/2050-7771-2-3Gelali E, Girelli G, Matsumoto M, et al.iFISH is a publically available resource enabling versatile DNA FISH to study genome architecture.Nat Commun. 2019;10(1):1636. doi:10.1038/s41467-019-09616-wAsim A, Kumar A, Muthuswamy S, Jain S, Agarwal S.“Down syndrome: an insight of the disease”.J Biomed Sci. 2015;22(1):41. doi:10.1186/s12929-015-0138-yAdditional ReadingCommittee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy.Obstet Gynecol. 2015 Sep;126(3):e31-e37. doi:10.1097/AOG.0000000000001051ACOG Committee on Practice Bulletins.ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.Obstet Gynecol. 2007 Jan;109(1):217-27. doi:10.1097/00006250-200701000-00054American Pregnancy Association.Quad screen test.Genetic Support Foundation.Pregnancy 101: fluorescence in-situ hybridization (FISH).National Human Genome Research Institute.Fluorescence in situ hybridization (FISH) fact sheet.Simpson JL.Invasive procedures for prenatal diagnosis: Any future left?Best Pract Res Clin Obstet Gynaecol. 2012 Oct;26(5):625-38. doi:10.1016/j.bpobgyn.2012.05.007Smith M, Visootsak J.Noninvasive screening tools for Down syndrome: a review.Int J Womens Health. 2013;5:125-31. doi:10.2147/IJWH.S31183.Zolotor AJ, Carlough MC.Update on prenatal care.Am Fam Physician. 2014 Feb 1;89(3):199-208.
22 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Centers for Disease Control and Prevention.Down syndrome.Penn Medicine.Screening for Down syndrome.Kim M, Kang S, Cho H.Clinical significance of sonographic soft markers: a review.J Gen Med. 2018 Jun;15(1):1-7. doi:10.5734/JGM.2018.15.1.1Beth Israel Deaconess Medical Center.Ultrasounds during pregnancy: How many and how often?Mount Sinai.Nuchal translucency test.Kataguiri M, Júnior E, Bussamra L, Nardozza L, Moron A.Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.J Pregnancy. 2014 Mar;2014(1):1-7. doi:10.1155/2014/785730Alldred SK, Takwoingi Y, Guo B, et al.First trimester serum tests for Down’s syndrome screening.Cochrane Database Syst Rev. 2015;(11):CD011975.Mount Sinai.Quadruple screen test.John Hopkins Medicine.First trimester screening, nuchal translucency and NIPT.Palomaki GE, Kloza EM.Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genet Med. 2018;20(11):1312-1323.American College of Obstetricians and Gynecologists.Cell-free DNA prenatal screening test.Dervan AP, Deverka PA, Trosman JR, Weldon CB, Douglas MP, Phillips KA.Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.Genet Med. 2017;19(5):559–567. doi:10.1038/gim.2016.145Weichert A, Braun T, Deutinger C, Henrich W, Kalache KD, Neymeyer J.Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies.J Perinat Med. 2017;45(2):205-211.Sun F, Oristaglio J, Levy SE, et al.Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2015 Jun. (Technical Briefs, No. 23.) Appendix B, Genetic Testing Overview.Mount Sinai.Karyotyping.Genetic Alliance; District of Columbia Department of Health.Understanding genetics: A District of Columbia Guide for Patients and Health Professionals.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9:CD003252.National Down Syndrome Society.Understanding a diagnosis of Down syndrome.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9(9):CD003252. doi:10.1002/14651858.CD003252.pub2Hu L, Ru K, Zhang L, et al.Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine.Biomark Res. 2014;2(1):3. doi:10.1186/2050-7771-2-3Gelali E, Girelli G, Matsumoto M, et al.iFISH is a publically available resource enabling versatile DNA FISH to study genome architecture.Nat Commun. 2019;10(1):1636. doi:10.1038/s41467-019-09616-wAsim A, Kumar A, Muthuswamy S, Jain S, Agarwal S.“Down syndrome: an insight of the disease”.J Biomed Sci. 2015;22(1):41. doi:10.1186/s12929-015-0138-yAdditional ReadingCommittee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy.Obstet Gynecol. 2015 Sep;126(3):e31-e37. doi:10.1097/AOG.0000000000001051ACOG Committee on Practice Bulletins.ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.Obstet Gynecol. 2007 Jan;109(1):217-27. doi:10.1097/00006250-200701000-00054American Pregnancy Association.Quad screen test.Genetic Support Foundation.Pregnancy 101: fluorescence in-situ hybridization (FISH).National Human Genome Research Institute.Fluorescence in situ hybridization (FISH) fact sheet.Simpson JL.Invasive procedures for prenatal diagnosis: Any future left?Best Pract Res Clin Obstet Gynaecol. 2012 Oct;26(5):625-38. doi:10.1016/j.bpobgyn.2012.05.007Smith M, Visootsak J.Noninvasive screening tools for Down syndrome: a review.Int J Womens Health. 2013;5:125-31. doi:10.2147/IJWH.S31183.Zolotor AJ, Carlough MC.Update on prenatal care.Am Fam Physician. 2014 Feb 1;89(3):199-208.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Centers for Disease Control and Prevention.Down syndrome.Penn Medicine.Screening for Down syndrome.Kim M, Kang S, Cho H.Clinical significance of sonographic soft markers: a review.J Gen Med. 2018 Jun;15(1):1-7. doi:10.5734/JGM.2018.15.1.1Beth Israel Deaconess Medical Center.Ultrasounds during pregnancy: How many and how often?Mount Sinai.Nuchal translucency test.Kataguiri M, Júnior E, Bussamra L, Nardozza L, Moron A.Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.J Pregnancy. 2014 Mar;2014(1):1-7. doi:10.1155/2014/785730Alldred SK, Takwoingi Y, Guo B, et al.First trimester serum tests for Down’s syndrome screening.Cochrane Database Syst Rev. 2015;(11):CD011975.Mount Sinai.Quadruple screen test.John Hopkins Medicine.First trimester screening, nuchal translucency and NIPT.Palomaki GE, Kloza EM.Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genet Med. 2018;20(11):1312-1323.American College of Obstetricians and Gynecologists.Cell-free DNA prenatal screening test.Dervan AP, Deverka PA, Trosman JR, Weldon CB, Douglas MP, Phillips KA.Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.Genet Med. 2017;19(5):559–567. doi:10.1038/gim.2016.145Weichert A, Braun T, Deutinger C, Henrich W, Kalache KD, Neymeyer J.Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies.J Perinat Med. 2017;45(2):205-211.Sun F, Oristaglio J, Levy SE, et al.Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2015 Jun. (Technical Briefs, No. 23.) Appendix B, Genetic Testing Overview.Mount Sinai.Karyotyping.Genetic Alliance; District of Columbia Department of Health.Understanding genetics: A District of Columbia Guide for Patients and Health Professionals.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9:CD003252.National Down Syndrome Society.Understanding a diagnosis of Down syndrome.Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9(9):CD003252. doi:10.1002/14651858.CD003252.pub2Hu L, Ru K, Zhang L, et al.Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine.Biomark Res. 2014;2(1):3. doi:10.1186/2050-7771-2-3Gelali E, Girelli G, Matsumoto M, et al.iFISH is a publically available resource enabling versatile DNA FISH to study genome architecture.Nat Commun. 2019;10(1):1636. doi:10.1038/s41467-019-09616-wAsim A, Kumar A, Muthuswamy S, Jain S, Agarwal S.“Down syndrome: an insight of the disease”.J Biomed Sci. 2015;22(1):41. doi:10.1186/s12929-015-0138-y
Centers for Disease Control and Prevention.Down syndrome.
Penn Medicine.Screening for Down syndrome.
Kim M, Kang S, Cho H.Clinical significance of sonographic soft markers: a review.J Gen Med. 2018 Jun;15(1):1-7. doi:10.5734/JGM.2018.15.1.1
Beth Israel Deaconess Medical Center.Ultrasounds during pregnancy: How many and how often?
Mount Sinai.Nuchal translucency test.
Kataguiri M, Júnior E, Bussamra L, Nardozza L, Moron A.Influence of second-trimester ultrasound markers for Down syndrome in pregnant women of advanced maternal age.J Pregnancy. 2014 Mar;2014(1):1-7. doi:10.1155/2014/785730
Alldred SK, Takwoingi Y, Guo B, et al.First trimester serum tests for Down’s syndrome screening.Cochrane Database Syst Rev. 2015;(11):CD011975.
Mount Sinai.Quadruple screen test.
John Hopkins Medicine.First trimester screening, nuchal translucency and NIPT.
Palomaki GE, Kloza EM.Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genet Med. 2018;20(11):1312-1323.
American College of Obstetricians and Gynecologists.Cell-free DNA prenatal screening test.
Dervan AP, Deverka PA, Trosman JR, Weldon CB, Douglas MP, Phillips KA.Payer decision making for next-generation sequencing-based genetic tests: insights from cell-free DNA prenatal screening.Genet Med. 2017;19(5):559–567. doi:10.1038/gim.2016.145
Weichert A, Braun T, Deutinger C, Henrich W, Kalache KD, Neymeyer J.Prenatal decision-making in the second and third trimester in trisomy 21-affected pregnancies.J Perinat Med. 2017;45(2):205-211.
Sun F, Oristaglio J, Levy SE, et al.Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2015 Jun. (Technical Briefs, No. 23.) Appendix B, Genetic Testing Overview.
Mount Sinai.Karyotyping.
Genetic Alliance; District of Columbia Department of Health.Understanding genetics: A District of Columbia Guide for Patients and Health Professionals.
Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9:CD003252.
National Down Syndrome Society.Understanding a diagnosis of Down syndrome.
Alfirevic Z, Navaratnam K, Mujezinovic F.Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane Database Syst Rev. 2017;9(9):CD003252. doi:10.1002/14651858.CD003252.pub2
Hu L, Ru K, Zhang L, et al.Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine.Biomark Res. 2014;2(1):3. doi:10.1186/2050-7771-2-3
Gelali E, Girelli G, Matsumoto M, et al.iFISH is a publically available resource enabling versatile DNA FISH to study genome architecture.Nat Commun. 2019;10(1):1636. doi:10.1038/s41467-019-09616-w
Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S.“Down syndrome: an insight of the disease”.J Biomed Sci. 2015;22(1):41. doi:10.1186/s12929-015-0138-y
Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy.Obstet Gynecol. 2015 Sep;126(3):e31-e37. doi:10.1097/AOG.0000000000001051ACOG Committee on Practice Bulletins.ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.Obstet Gynecol. 2007 Jan;109(1):217-27. doi:10.1097/00006250-200701000-00054American Pregnancy Association.Quad screen test.Genetic Support Foundation.Pregnancy 101: fluorescence in-situ hybridization (FISH).National Human Genome Research Institute.Fluorescence in situ hybridization (FISH) fact sheet.Simpson JL.Invasive procedures for prenatal diagnosis: Any future left?Best Pract Res Clin Obstet Gynaecol. 2012 Oct;26(5):625-38. doi:10.1016/j.bpobgyn.2012.05.007Smith M, Visootsak J.Noninvasive screening tools for Down syndrome: a review.Int J Womens Health. 2013;5:125-31. doi:10.2147/IJWH.S31183.Zolotor AJ, Carlough MC.Update on prenatal care.Am Fam Physician. 2014 Feb 1;89(3):199-208.
Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy.Obstet Gynecol. 2015 Sep;126(3):e31-e37. doi:10.1097/AOG.0000000000001051
ACOG Committee on Practice Bulletins.ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities.Obstet Gynecol. 2007 Jan;109(1):217-27. doi:10.1097/00006250-200701000-00054
American Pregnancy Association.Quad screen test.
Genetic Support Foundation.Pregnancy 101: fluorescence in-situ hybridization (FISH).
National Human Genome Research Institute.Fluorescence in situ hybridization (FISH) fact sheet.
Simpson JL.Invasive procedures for prenatal diagnosis: Any future left?Best Pract Res Clin Obstet Gynaecol. 2012 Oct;26(5):625-38. doi:10.1016/j.bpobgyn.2012.05.007
Smith M, Visootsak J.Noninvasive screening tools for Down syndrome: a review.Int J Womens Health. 2013;5:125-31. doi:10.2147/IJWH.S31183.
Zolotor AJ, Carlough MC.Update on prenatal care.Am Fam Physician. 2014 Feb 1;89(3):199-208.
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