Figure 1: RELATIVE frequency of chromosomal anomalies in chorionic villi (CV) samples—Data from a retrospective study of 90K samples with ~84K samples analyzed by standard karyotype: (73,268 amniotic fluid, 10,511 CV) taken in early pregnancy from patients with an elevated risk for chromosomal anomalies.1

*SCA – sex chromosome aneuploidies

Figure 2: Clinical pathology in cases of rare aneuploidies detected with NIPT–data compiled from multiple studies with a total of 58,513 samples screened, identifying 150 total rare autosomal aneuploidies (RAAs) with pregnancy outcome data available in 141 cases. FGR, fetal growth restriction; PE, pre-eclampsia; SPTB, spontaneous preterm birth (not indicated by FGR or PE); UPD, uniparental disomy.2-7

Figure 3: Clinical pathology in cases of partial deletions/duplications detected with NIPT—Data compiled from multiple studies with a total of 39,856 samples screened, identifying 71 total CNVs, 68 with outcome data. Size limits ranged from 1-20 Mb.2-5,8

  1. Konialis C, Pangalos C. Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center’s 30 Years’ Experience and 90,000 Cases. Fetal Diagn Ther. 2015;38(3):218-232. doi:10.1159/000368604
  2. Van Opstal D, van Maarle MC, Lichtenbelt K, et al. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study. Genet Med. 2018;20(5):480-485. doi:10.1038/gim.2017.132
  3. Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014;43(3):254-264. doi:10.1002/uog.13277
  4. Fiorentino F, Bono S, Pizzuti F, et al. The clinical utility of genomewide non invasive prenatal screening. Prenat Diagn. 2017;37(6):593-601. doi:10.1002/pd.5053
  5. Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increasedrisk of feto-placental disease. Sci Transl Med. 2017;9(405):eaan1240. doi:10.1126/scitranslmed.aan1240
  6. Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A. Rare autosomal trisomies: Important and not so rare. Prenat Diagn. 2018;38(10):765-771. doi:10.1002/pd.5325
  7. Chatron N, Till M, Abel C, et al. Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. Ultrasound Obstet Gynecol. 2019;53(1):129-130. doi:10.1002/uog.20094
  8. Wu Y, Zhang L, Lv H, et al. Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication. J Cell Mol Med. 2020;24(17):9936-9944. doi:10.1111/jcmm.15593

Several professional medical societies involved with prenatal care provide guidance and information on prenatal screening and testing options, including NIPT.

Professional Medical Society Guidelines or Statements related to NIPT include the following*:

International

 ISPD (International Society for Prenatal Diagnosis):

  • Hui L, Ellis K, Mayen D, et al. Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. Prenat Diagn. 2023;43(7):814-828. doi:10.1002/pd.6357. Learn more
  • Palomaki GE, Chiu RWK, Pertile MD et al. International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies. Prenat Diagn. 2020 Oct 5. doi: 10.1002/pd.5832. Learn more

 

Asia-Pacific

HGSA (Human Genetics Society of Australasia) / RANZCOG (Royal Australian and New Zealand College of Obstetricians and Gynaecologists):

  • Human Genetics Society of Australasia/Royal Australian New Zealand College of Obstetrics and Gynaecology. Prenatal screening and diagnosis of chromosomal and genetics conditions in the fetus in pregnancy, 2018 Learn more

 

Europe

ACLF (Association des Cytogénéticiens de Langue Française / Association of French-speaking Cytogeneticists) / CNGOF (Collège National des Gynécologues et Obstétriciens Français / National College of French Gynecologists and Obstetricians) / ANPGM (L’ Association Nationale des Praticiens de Génétique Moléculaire / National Association of Molecular Genetics Practitioners) / ABA (Association des Biologistes Agréés pour dépistage de la trisomie 21 / Association of Approved Biologists for Trisomy 21 Screening):

  • ACLF – Recommandations sur la conduite à tenir devant l’identification d’anomalies chromosomiques autres que les trisomies 13, 18 et 21 par l’étude de l’ADN libre circulant (ADNlc). Learn more
  • Dupont JM, Gatinois V, Kleinfinger P, et al. ACLF, ANPGM, CNGOF, ABA – Recommandations pour le dépistage des anomalies chromosomiques foetales par l’étude de l’ADN libre circulant (ADNlc). Learn more

 

BeSHG: Belgian Society for Human Genetics

  • Belgian Guidelines for managing incidental findings detected by NIPT. Learn more

 

DEGUM (Deutsche Gesellschaft für Ultraschall in der Medizin / German Society for Ultrasound in Medicine) / ÖGUM (Österreichische Gesellschaft für Ultraschall in der Medizin / Austrian Society for Ultrasound in Medicine) / SGUM (Schweizerische Gesellschaft für Ultraschall in der Medizin / Swiss Society for Ultrasound in Medicine) / FMF Germany (Fetal Medicine Foundation Germany):

  • Kozlowski P, Burkhardt T, Gembruch U, et al. DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. Empfehlungen der DEGUM, der ÖGUM, der SGUM und der FMF Deutschland zum Einsatz von Ersttrimester-Screening, früher Fehlbildungsdiagnostik, Screening an zellfreier DNA (NIPT) und diagnostischen Punktionen. Ultraschall Med. 2019;40(2):176-193. doi:10.1055/a-0631-8898 Learn more

 

SEGO (Sociedad Española de Ginecología y Obstetricia / Spanish Society of Gynecology and Obstetrics) /SEQCML (Sociedad Española de Medicina de Laboratorio / Spanish Society of Laboratory Medicine) / AEDP (Asociación Española de Diagnóstico Prenatal / Spanish Association of Prenatal Diagnosis):

  • Prieto B, Adiego B, Suela J, et al. Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations. Adv Lab Med. 2020;1(3):20200043. Published 2020 Jul 27. doi:10.1515/almed-2020-0043. Learn more

 

SIGU (La Società Italiana di Genetica Umana / Italian Society of Human Genetics) / SIEOG (Società Italiana di Ecografia Ostetrica e Ginecologica e Metodologie Biofisiche / Italian Society of Obstetric and Gynecological Ultrasound and Biophysical Methodologies) / SIGO (Società Italiana di Ginecologia e Ostetricia / Italian Society of Gynecology and Obstetrics) / AOGOI (Associazione Ostetrici e Ginecologi Ospedalieri Italiani / Association of Italian Hospital Obstetricians and Gynecologists):

  • Grati F, Cavani S, Cardarelli L, et al. Conferma diagnostica dopo NIPT con risultato ad alto rischio, non informativo o sesso discordante. Data pubblicazione: 27/10/2020. Learn more

 

United States

ACMG (American College of Medical Genetics and Genomics):

  • Dungan JS, Klugman S, Darilek S et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Feb. 25(2):100336. doi: 10.1016/j.gim.2022.11.004. Epub 2022 Dec 16. Learn more

 

ACOG (American College of Obstetricians and Gynecologists):

  • American College of Obstetricians and Gynecologists. Practice Bulletin No. 226: Screening for fetal chromosome abnormalities. Obstet Gynecol. 2020;136(4). Learn more

 

NSGC (National Society of Genetic Counselors):

 

 

*This list was last updated in October 2023 and is not intended to be a comprehensive list of all professional medical guidelines and statements related to NIPT

Common autosomal aneuploidies

Trisomy 21
Trisomy 18
Trisomy 13

Sex chromosome aneuploidies (SCAs)

Monosomy X
XXX syndrome
XXY syndrome
XYY syndrome

Rare autosomal aneuploidies

Multiple aneuploidies
Autosomal monosomies
Trisomy 1
Trisomy 2
Trisomy 3
Trisomy 4
Trisomy 5
Trisomy 6
Trisomy 7
Trisomy 8
Trisomy 9
Trisomy 10
Trisomy 11
Trisomy 12
Trisomy 14
Trisomy 15
Trisomy 16
Trisomy 17
Trisomy 19
Trisomy 20
Trisomy 22

Partial deletions/duplications

Partial deletion (CNV ≥ 7MB)
Partial duplication (CNV ≥ 7MB)

Perinatal Quality Foundation (PQF) is an independent non-profit foundation with a mission to improve the quality of obstetrical medical services.

Stats & Data

Figure 1: RELATIVE frequency of chromosomal anomalies in chorionic villi (CV) samples—Data from a retrospective study of 90K samples with ~84K samples analyzed by standard karyotype: (73,268 amniotic fluid, 10,511 CV) taken in early pregnancy from patients with an elevated risk for chromosomal anomalies.1

*SCA – sex chromosome aneuploidies

Figure 2: Clinical pathology in cases of rare aneuploidies detected with NIPT–data compiled from multiple studies with a total of 58,513 samples screened, identifying 150 total rare autosomal aneuploidies (RAAs) with pregnancy outcome data available in 141 cases. FGR, fetal growth restriction; PE, pre-eclampsia; SPTB, spontaneous preterm birth (not indicated by FGR or PE); UPD, uniparental disomy.2-7

Figure 3: Clinical pathology in cases of partial deletions/duplications detected with NIPT—Data compiled from multiple studies with a total of 39,856 samples screened, identifying 71 total CNVs, 68 with outcome data. Size limits ranged from 1-20 Mb.2-5,8

  1. Konialis C, Pangalos C. Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center’s 30 Years’ Experience and 90,000 Cases. Fetal Diagn Ther. 2015;38(3):218-232. doi:10.1159/000368604
  2. Van Opstal D, van Maarle MC, Lichtenbelt K, et al. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study. Genet Med. 2018;20(5):480-485. doi:10.1038/gim.2017.132
  3. Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014;43(3):254-264. doi:10.1002/uog.13277
  4. Fiorentino F, Bono S, Pizzuti F, et al. The clinical utility of genomewide non invasive prenatal screening. Prenat Diagn. 2017;37(6):593-601. doi:10.1002/pd.5053
  5. Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increasedrisk of feto-placental disease. Sci Transl Med. 2017;9(405):eaan1240. doi:10.1126/scitranslmed.aan1240
  6. Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A. Rare autosomal trisomies: Important and not so rare. Prenat Diagn. 2018;38(10):765-771. doi:10.1002/pd.5325
  7. Chatron N, Till M, Abel C, et al. Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. Ultrasound Obstet Gynecol. 2019;53(1):129-130. doi:10.1002/uog.20094
  8. Wu Y, Zhang L, Lv H, et al. Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication. J Cell Mol Med. 2020;24(17):9936-9944. doi:10.1111/jcmm.15593

Professional Medical Societies

Several professional medical societies involved with prenatal care provide guidance and information on prenatal screening and testing options, including NIPT.  Some of these societies include:

Chromosome Condition Fact Sheets

Common autosomal aneuploidies

Trisomy 21

Trisomy 18

Trisomy 13

Sex chromosome aneuploidies (SCAs)

Monosomy X

XXX Syndrome

XXY Syndrome

XYY Syndrome

Rare autosomal aneuploidies

Multiple Aneuploidies

Autosomal Monosomies

Trisomy 1

Trisomy 2

Trisomy 3

Trisomy 4

Trisomy 5

Trisomy 6

Trisomy 7

Trisomy 8

Trisomy 9

Trisomy 10

Trisomy 11

Trisomy 12

Trisomy 14

Trisomy 15

Trisomy 16

Trisomy 17

Trisomy 19

Trisomy 20

Trisomy 22

Partial deletions/duplications

Partial deletion

Partial

Additional Resources

Perinatal Quality Foundation (PQF) is an independent non-profit foundation with a mission to improve the quality of obstetrical medical services.